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Luigi Daniele Notarangelo, MD

Luigi Daniele Notarangelo, MD
Medicine Research
Immunology Research
Hospital Title:
Director, Research and Molecular Diagnosis Program on Primary Immunodeficiencies
Academic Title:
Professor of Pediatrics and Pathology, Harvard Medical School
Research Focus Area:
Cellular bases of congenital immunodeficiencies
Contact Via Email
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Research Overview

Dr. Notarangelo's research focuses of the characterization of the molecular and cellular bases of congenital immunodeficiencies as illustrated through the study of human patients and of suitable animal models. In particular, his lab is actively involved in understanding the essential signals that govern development and maturation of T and B lymphocytes. Defects in such processes are often responsible for life-threatening disorders, known as Severe Combined Immune Deficiencies (SCID). In the last years, Dr. Notarangelo and his colleagures have identified novel genetic defects responsible for SCID and other congenital immunodeficiencies in humans, such as SCID due to JAK3 deficiency, Omenn syndrome due to RAG genes defects, Omenn syndrome due to IL7R gene defect, immunodeficiency with hyper-IgM due to CD40L or to CD40 deficiency, isolated X-linked thrombocytopenia, and X-linked lymphoproliferative syndrome. They are also trying to define the genotype-phenotype correlation in such disorders, so that (if such correlation exists) it may be possible to predict the severity of the disease based on the specific gene defect identified in each family.

Dr. Notarangelo is also actively involved in exploiting novel and more effective forms of treatment for children affected with severe forms of congenital immunodeficiencies. In particular, his group has aimed at improving the long-term outcome after hematopoietic stem cell transplantation for SCID and other severe immunodeficiencies through the development of improved pre- and post-transplant strategies of clinical management.

About Luigi Notarangelo

He received an MD degree and completed post-graduate training in Pediatrics, Allergy and Cytogenetics at the University of Pavia. He chaired the Department of Pediatrics at the University of Brescia (Italy) from 2000 to 2006, when he was recruited at Children’s Hospital Boston, where he is Jeffrey Modell Chair of Pediatric Immunology Research, and Professor of Pediatrics and Pathology at the Harvard Medical School. He is member of the Manton Center for Orphan Disease Research. Dr. Notarangelo served as President of the European Society for Immune Deficiencies from 2002 to 2006, and co-chairs the Committee on Primary Immunodeficiencies of the International Union of Immunological Societies. He has participated at gene therapy trials for adenosine deaminase deficiency and is currently site Principal Investigator in a gene therapy trial for X-linked SCID and co-Investigator in a gene therapy trial for the Wiskott-Aldrich syndrome. He has authored more than 370 peer-reviewed manuscripts and several book chapters.

About the lab

The focus of the Notarangelo lab is on the characterization of the molecular and cellular basis of primary immunodeficiencies (PIDs) and on the development of innovative forms of treatment for severe forms of immunodeficiency. In particular, current investigations include the study of patient-derived induced pluripotent stem cells and of other cellular models to understand genotype-phenotype correlation in PID; generation of novel gene-targeted mice to model congenital immunodeficiencies; and, development of novel approaches to gene therapy based on gene editing by means of locus-specific nucleases. 

Our team
Kerry Dobbs Research Technician
Kerstin Felgentreff Research Fellow
Francesco Frugoni Research Technician
Yu Nee Lee Instructor
Maxim Lutskyi  Research Fellow
Francesca Rucci Research Fellow
Irit Tirosh Research Fellow
Stefano Volpi Research Fellow
Jolan Walter Research Fellow
Katja Weinacth Research Fellow


Publications powered by Harvard Catalyst Profiles
  1. Notarangelo LD, Holland SM. Friendly fire: anti-cytokine antibodies elicited by microbes. Nat Med. 2016 Sep 7; 22(9):973-5.
  2. Kumánovics A, Lee YN, Close DW, Coonrod EM, Ujhazi B, Chen K, MacArthur DG, Krivan G, Notarangelo LD, Walter JE. Estimated disease incidence of RAG1/2 mutations: A case report and querying the Exome Aggregation Consortium. J Allergy Clin Immunol. 2016 Sep 5.
  3. John T, Walter JE, Schuetz C, Chen K, Abraham RS, Bonfim C, Boyce TG, Joshi AY, Kang E, Carvalho BT, Mahajerin A, Nugent D, Puthenveetil G, Soni A, Su H, Cowan MJ, Notarangelo L, Buchbinder D. Unrelated Hematopoietic Cell Transplantation in a Patient with Combined Immunodeficiency with Granulomatous Disease and Autoimmunity Secondary to RAG Deficiency. J Clin Immunol. 2016 Oct; 36(7):725-32.
  4. Kammermeier J, Lucchini G, Pai SY, Worth A, Rampling D, Amrolia P, Silva J, Chiesa R, Rao K, Noble-Jamieson G, Gasparetto M, Ellershaw D, Uhlig H, Sebire N, Elawad M, Notarangelo L, Shah N, Veys P. Stem cell transplantation for tetratricopeptide repeat domain 7A deficiency: long-term follow-up. Blood. 2016 Sep 1; 128(9):1306-8.
  5. Henderson LA, Volpi S, Frugoni F, Janssen E, Kim S, Sundel RP, Dedeoglu F, Lo MS, Hazen MM, Beth Son M, Mathieu R, Zurakowski D, Yu N, Lebedeva T, Fuhlbrigge RC, Walter JE, Nee Lee Y, Nigrovic PA, Notarangelo LD. Next-Generation Sequencing Reveals Restriction and Clonotypic Expansion of Treg Cells in Juvenile Idiopathic Arthritis. Arthritis Rheumatol. 2016 Jul; 68(7):1758-68.
  6. Modell V, Quinn J, Orange J, Notarangelo LD, Modell F. Primary immunodeficiencies worldwide: an updated overview from the Jeffrey Modell Centers Global Network. Immunol Res. 2016 Jun; 64(3):736-53.
  7. Griffith LM, Cowan MJ, Notarangelo LD, Kohn DB, Puck JM, Shearer WT, Burroughs LM, Torgerson TR, Decaluwe H, Haddad E. Primary Immune Deficiency Treatment Consortium (PIDTC) update. J Allergy Clin Immunol. 2016 Aug; 138(2):375-85.
  8. De Ravin SS, Wu X, Moir S, Anaya-O'Brien S, Kwatemaa N, Littel P, Theobald N, Choi U, Su L, Marquesen M, Hilligoss D, Lee J, Buckner CM, Zarember KA, O'Connor G, McVicar D, Kuhns D, Throm RE, Zhou S, Notarangelo LD, Hanson IC, Cowan MJ, Kang E, Hadigan C, Meagher M, Gray JT, Sorrentino BP, Malech HL. Lentiviral hematopoietic stem cell gene therapy for X-linked severe combined immunodeficiency. Sci Transl Med. 2016 Apr 20; 8(335):335ra57.
  9. Felgentreff K, Baxi SN, Lee YN, Dobbs K, Henderson LA, Csomos K, Tsitsikov EN, Armanios M, Walter JE, Notarangelo LD. Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals. J Clin Immunol. 2016 May; 36(4):341-53.
  10. Al-Herz W, Chu JI, van der Spek J, Raghupathy R, Massaad MJ, Keles S, Biggs CM, Cockerton L, Chou J, Dbaibo G, Elisofon SA, Hanna-Wakim R, Kim HB, Lehmann LE, McDonald DR, Notarangelo LD, Veys P, Chatila TA, Geha RS, Gaspar HB, Pai SY. Hematopoietic stem cell transplantation outcomes for 11 patients with dedicator of cytokinesis 8 deficiency. J Allergy Clin Immunol. 2016 Sep; 138(3):852-859.e3.
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  12. Notarangelo LD, Kim MS, Walter JE, Lee YN. Human RAG mutations: biochemistry and clinical implications. Nat Rev Immunol. 2016 Apr; 16(4):234-46.
  13. Ott de Bruin L, Yang W, Capuder K, Lee YN, Antolini M, Meyers R, Gellert M, Musunuru K, Manis J, Notarangelo L. Rapid generation of novel models of RAG1 deficiency by CRISPR/Cas9-induced mutagenesis in murine zygotes. Oncotarget. 2016 Mar 15; 7(11):12962-74.
  14. Biswas A, Shouval D, Goettel J, Field M, Griffith A, Pai SY, Notarangelo L, Geha R, Snapper S. O-008 Aberrant Anti-inflammatory Macrophage Function and Differentiation in Wiskott-Aldrich Syndrome Protein-Deficient Mice and Humans. Inflamm Bowel Dis. 2016 Mar; 22 Suppl 1:S3.
  15. Björkman A, Du L, Felgentreff K, Rosner C, Pankaj Kamdar R, Kokaraki G, Matsumoto Y, Davies EG, van der Burg M, Notarangelo LD, Hammarström L, Pan-Hammarström Q. DNA-PKcs Is Involved in Ig Class Switch Recombination in Human B Cells. J Immunol. 2015 Dec 15; 195(12):5608-15.
  16. Valés-Gómez M, Esteso G, Aydogmus C, Blázquez-Moreno A, Marín AV, Briones AC, Garcillán B, García-Cuesta EM, López Cobo S, Haskologlu S, Moraru M, Cipe F, Dobbs K, Dogu F, Parolini S, Notarangelo LD, Vilches C, Recio MJ, Regueiro JR, Ikinciogullari A, Reyburn HT. Natural killer cell hyporesponsiveness and impaired development in a CD247-deficient patient. J Allergy Clin Immunol. 2016 Mar; 137(3):942-5.e4.
  17. Fischer A, Notarangelo LD, Neven B, Cavazzana M, Puck JM. Severe combined immunodeficiencies and related disorders. Nat Rev Dis Primers. 2015; 1:15061.
  18. Volpi S, Santori E, Abernethy K, Mizui M, Dahlberg CI, Recher M, Capuder K, Csizmadia E, Ryan D, Mathew D, Tsokos GC, Snapper S, Westerberg LS, Thrasher AJ, Candotti F, Notarangelo LD. N-WASP is required for B-cell-mediated autoimmunity in Wiskott-Aldrich syndrome. Blood. 2016 Jan 14; 127(2):216-20.
  19. Sobh A, Crestani E, Cangemi B, Kane J, Chou J, Pai SY, Notarangelo LD, Al-Herz W, Geha RS, Massaad MJ. Autoimmune lymphoproliferative syndrome caused by a homozygous FasL mutation that disrupts FasL assembly. J Allergy Clin Immunol. 2016 Jan; 137(1):324-7.
  20. Kolhatkar NS, Brahmandam A, Thouvenel CD, Becker-Herman S, Jacobs HM, Schwartz MA, Allenspach EJ, Khim S, Panigrahi AK, Luning Prak ET, Thrasher AJ, Notarangelo LD, Candotti F, Torgerson TR, Sanz I, Rawlings DJ. Altered BCR and TLR signals promote enhanced positive selection of autoreactive transitional B cells in Wiskott-Aldrich syndrome. J Exp Med. 2015 Sep 21; 212(10):1663-77.
  21. Frugoni F, Dobbs K, Felgentreff K, Aldhekri H, Al Saud BK, Arnaout R, Ali AA, Abhyankar A, Alroqi F, Giliani S, Ojeda MM, Tsitsikov E, Pai SY, Casanova JL, Notarangelo LD, Manis JP. A novel mutation in the POLE2 gene causing combined immunodeficiency. J Allergy Clin Immunol. 2016 Feb; 137(2):635-638.e1.
  22. Al-Herz W, Notarangelo LD, Sadek A, Buckley R. Combined immunodeficiency in the United States and Kuwait: Comparison of patients' characteristics and molecular diagnosis. Clin Immunol. 2015 Dec; 161(2):170-3.
  23. Rissone A, Weinacht KG, la Marca G, Bishop K, Giocaliere E, Jagadeesh J, Felgentreff K, Dobbs K, Al-Herz W, Jones M, Chandrasekharappa S, Kirby M, Wincovitch S, Simon KL, Itan Y, DeVine A, Schlaeger T, Schambach A, Sood R, Notarangelo LD, Candotti F. Reticular dysgenesis-associated AK2 protects hematopoietic stem and progenitor cell development from oxidative stress. J Exp Med. 2015 Jul 27; 212(8):1185-202.
  24. Dahlberg CI, Torres ML, Petersen SH, Baptista MA, Keszei M, Volpi S, Grasset EK, Karlsson MC, Walter JE, Snapper SB, Notarangelo LD, Westerberg LS. Deletion of WASp and N-WASp in B cells cripples the germinal center response and results in production of IgM autoantibodies. J Autoimmun. 2015 Aug; 62:81-92.
  25. Torres A, Newton SA, Crompton B, Borzutzky A, Neufeld EJ, Notarangelo L, Berry GT. CSF 5-Methyltetrahydrofolate Serial Monitoring to Guide Treatment of Congenital Folate Malabsorption Due to Proton-Coupled Folate Transporter (PCFT) Deficiency. JIMD Rep. 2015; 24:91-6.
  26. Lafaille FG, Ciancanelli MJ, Studer L, Smith G, Notarangelo L, Casanova JL, Zhang SY. Deciphering Human Cell-Autonomous Anti-HSV-1 Immunity in the Central Nervous System. Front Immunol. 2015; 6:208.
  27. Chinen J, Notarangelo LD, Shearer WT. Advances in basic and clinical immunology in 2014. J Allergy Clin Immunol. 2015 May; 135(5):1132-41.
  28. Goettel JA, Biswas S, Lexmond WS, Yeste A, Passerini L, Patel B, Yang S, Sun J, Ouahed J, Shouval DS, McCann KJ, Horwitz BH, Mathis D, Milford EL, Notarangelo LD, Roncarolo MG, Fiebiger E, Marasco WA, Bacchetta R, Quintana FJ, Pai SY, Klein C, Muise AM, Snapper SB. Fatal autoimmunity in mice reconstituted with human hematopoietic stem cells encoding defective FOXP3. Blood. 2015 Jun 18; 125(25):3886-95.
  29. Bis S, Maguiness SM, Gellis SE, Schneider LC, Lee PY, Notarangelo LD, Keles S, Chatila TA, Schmidt BA, Miller DD. Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome associated with neonatal epidermolysis bullosa acquisita. Pediatr Dermatol. 2015 May-Jun; 32(3):e74-7.
  30. Kato T, Crestani E, Kamae C, Honma K, Yokosuka T, Ikegawa T, Nishida N, Kanegane H, Wada T, Yachie A, Ohara O, Morio T, Notarangelo LD, Imai K, Nonoyama S. RAG1 deficiency may present clinically as selective IgA deficiency. J Clin Immunol. 2015 Apr; 35(3):280-8.
  31. Rechavi E, Lev A, Lee YN, Simon AJ, Yinon Y, Lipitz S, Amariglio N, Weisz B, Notarangelo LD, Somech R. Timely and spatially regulated maturation of B and T cell repertoire during human fetal development. Sci Transl Med. 2015 Feb 25; 7(276):276ra25.
  32. Clemente N, Boggio E, Gigliotti CL, Orilieri E, Cappellano G, Toth E, Valletti PA, Santoro C, Quinti I, Pignata C, Notarangelo LD, Dianzani C, Dianzani I, Ramenghi U, Dianzani U, Chiocchetti A. A mutation in caspase-9 decreases the expression of BAFFR and ICOS in patients with immunodeficiency and lymphoproliferation. Genes Immun. 2015 Mar; 16(2):151-61.
  33. Buchbinder D, Baker R, Lee YN, Ravell J, Zhang Y, McElwee J, Nugent D, Coonrod EM, Durtschi JD, Augustine NH, Voelkerding KV, Csomos K, Rosen L, Browne S, Walter JE, Notarangelo LD, Hill HR, Kumánovics A. Identification of patients with RAG mutations previously diagnosed with common variable immunodeficiency disorders. J Clin Immunol. 2015 Feb; 35(2):119-24.
  34. Notarangelo LD. Multiple intestinal atresia with combined immune deficiency. Curr Opin Pediatr. 2014 Dec; 26(6):690-6.
  35. Chida N, Kobayashi I, Takezaki S, Ueki M, Yamazaki Y, Garelli S, Scarpa R, Horikawa R, Yamada M, Betterle C, Notarangelo LD, Yawaka Y, Ariga T. Disease specificity of anti-tryptophan hydroxylase-1 and anti-AIE-75 autoantibodies in APECED and IPEX syndrome. Clin Immunol. 2015 Jan; 156(1):36-42.
  36. Notarangelo LD. Immunodeficiency and immune dysregulation associated with proximal defects of T cell receptor signaling. Curr Opin Immunol. 2014 Dec; 31:97-101.
  37. Casanova JL, Conley ME, Seligman SJ, Abel L, Notarangelo LD. Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies. J Exp Med. 2014 Oct 20; 211(11):2137-49.
  38. Walter JE, Lo MS, Kis-Toth K, Tirosh I, Frugoni F, Lee YN, Csomos K, Chen K, Pillai S, Dunham J, Tsokos GC, Luning Prak ET, Notarangelo LD. Impaired receptor editing and heterozygous RAG2 mutation in a patient with systemic lupus erythematosus and erosive arthritis. J Allergy Clin Immunol. 2015 Jan; 135(1):272-3.
  39. Modell V, Knaus M, Modell F, Roifman C, Orange J, Notarangelo LD. Global overview of primary immunodeficiencies: a report from Jeffrey Modell Centers worldwide focused on diagnosis, treatment, and discovery. Immunol Res. 2014 Oct; 60(1):132-44.
  40. Ma CA, Pusso A, Wu L, Zhao Y, Hoffmann V, Notarangelo LD, Fowlkes BJ, Jain A. Novel INHAT repressor (NIR) is required for early lymphocyte development. Proc Natl Acad Sci U S A. 2014 Sep 23; 111(38):13930-5.
  41. Kwan A, Abraham RS, Currier R, Brower A, Andruszewski K, Abbott JK, Baker M, Ballow M, Bartoshesky LE, Bonilla FA, Brokopp C, Brooks E, Caggana M, Celestin J, Church JA, Comeau AM, Connelly JA, Cowan MJ, Cunningham-Rundles C, Dasu T, Dave N, De La Morena MT, Duffner U, Fong CT, Forbes L, Freedenberg D, Gelfand EW, Hale JE, Hanson IC, Hay BN, Hu D, Infante A, Johnson D, Kapoor N, Kay DM, Kohn DB, Lee R, Lehman H, Lin Z, Lorey F, Abdel-Mageed A, Manning A, McGhee S, Moore TB, Naides SJ, Notarangelo LD, Orange JS, Pai SY, Porteus M, Rodriguez R, Romberg N, Routes J, Ruehle M, Rubenstein A, Saavedra-Matiz CA, Scott G, Scott PM, Secord E, Seroogy C, Shearer WT, Siegel S, Silvers SK, Stiehm ER, Sugerman RW, Sullivan JL, Tanksley S, Tierce ML, Verbsky J, Vogel B, Walker R, Walkovich K, Walter JE, Wasserman RL, Watson MS, Weinberg GA, Weiner LB, Wood H, Yates AB, Puck JM, Bonagura VR. Newborn screening for severe combined immunodeficiency in 11 screening programs in the United States. JAMA. 2014 Aug 20; 312(7):729-38.
  42. Dvorak CC, Hassan A, Slatter MA, Hönig M, Lankester AC, Buckley RH, Pulsipher MA, Davis JH, Güngör T, Gabriel M, Bleesing JH, Bunin N, Sedlacek P, Connelly JA, Crawford DF, Notarangelo LD, Pai SY, Hassid J, Veys P, Gennery AR, Cowan MJ. Comparison of outcomes of hematopoietic stem cell transplantation without chemotherapy conditioning by using matched sibling and unrelated donors for treatment of severe combined immunodeficiency. J Allergy Clin Immunol. 2014 Oct; 134(4):935-943.e15.
  43. Pai SY, Logan BR, Griffith LM, Buckley RH, Parrott RE, Dvorak CC, Kapoor N, Hanson IC, Filipovich AH, Jyonouchi S, Sullivan KE, Small TN, Burroughs L, Skoda-Smith S, Haight AE, Grizzle A, Pulsipher MA, Chan KW, Fuleihan RL, Haddad E, Loechelt B, Aquino VM, Gillio A, Davis J, Knutsen A, Smith AR, Moore TB, Schroeder ML, Goldman FD, Connelly JA, Porteus MH, Xiang Q, Shearer WT, Fleisher TA, Kohn DB, Puck JM, Notarangelo LD, Cowan MJ, O'Reilly RJ. Transplantation outcomes for severe combined immunodeficiency, 2000-2009. N Engl J Med. 2014 Jul 31; 371(5):434-46.
  44. O'Connell AE, Volpi S, Dobbs K, Fiorini C, Tsitsikov E, de Boer H, Barlan IB, Despotovic JM, Espinosa-Rosales FJ, Hanson IC, Kanariou MG, Martínez-Beckerat R, Mayorga-Sirera A, Mejia-Carvajal C, Radwan N, Weiss AR, Pai SY, Lee YN, Notarangelo LD. Next generation sequencing reveals skewing of the T and B cell receptor repertoires in patients with wiskott-Aldrich syndrome. Front Immunol. 2014; 5:340.
  45. Abolhassani H, Wang N, Aghamohammadi A, Rezaei N, Lee YN, Frugoni F, Notarangelo LD, Pan-Hammarström Q, Hammarström L. A hypomorphic recombination-activating gene 1 (RAG1) mutation resulting in a phenotype resembling common variable immunodeficiency. J Allergy Clin Immunol. 2014 Dec; 134(6):1375-80.
  46. Hedayat M, Massaad MJ, Lee YN, Conley ME, Orange JS, Ohsumi TK, Al-Herz W, Notarangelo LD, Geha RS, Chou J. Lessons in gene hunting: a RAG1 mutation presenting with agammaglobulinemia and absence of B cells. J Allergy Clin Immunol. 2014 Oct; 134(4):983-5.e1.
  47. Marrella V, Poliani PL, Notarangelo LD, Grassi F, Villa A. Rag defects and thymic stroma: lessons from animal models. Front Immunol. 2014; 5:259.
  48. De Ravin SS, Parta M, Sutton DA, Wickes BL, Thompson EH, Wiederhold NP, Nakasone KK, Alimchandani M, OConnell A, Notarangelo L, Kang E, Malech HL, Zelazny AM. Paravertebral mushroom: identification of a novel species of Phellinus as a human pathogen in chronic granulomatous disease. J Clin Microbiol. 2014 Jul; 52(7):2726-9.
  49. Crestani E, Choo S, Frugoni F, Lee YN, Richards S, Smart J, Notarangelo LD. RAG1 reversion mosaicism in a patient with Omenn syndrome. J Clin Immunol. 2014 Jul; 34(5):551-4.
  50. la Marca G, Canessa C, Giocaliere E, Romano F, Malvagia S, Funghini S, Moriondo M, Valleriani C, Lippi F, Ombrone D, Della Bona ML, Speckmann C, Borte S, Brodszki N, Gennery AR, Weinacht K, Celmeli F, Pagel J, de Martino M, Guerrini R, Wittkowski H, Santisteban I, Bali P, Ikinciogullari A, Hershfield M, Notarangelo LD, Resti M, Azzari C. Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots. J Allergy Clin Immunol. 2014 Jul; 134(1):155-9.
  51. Chou J, Lutskiy M, Tsitsikov E, Notarangelo LD, Geha RS, Dioun A. Presence of hypogammaglobulinemia and abnormal antibody responses in GATA2 deficiency. J Allergy Clin Immunol. 2014 Jul; 134(1):223-6.
  52. Sullivan KE, Puck JM, Notarangelo LD, Fuleihan R, Caulder T, Wang C, Boyle M, Cunningham-Rundles C. USIDNET: a strategy to build a community of clinical immunologists. J Clin Immunol. 2014 May; 34(4):428-35.
  53. Henderson LA, Volpi S, Frugoni F, Kim S, Janssen E, Sundel RP, Dedeoglu F, Lo MS, Hazen MM, Mathieu R, Fuhlbrigge RC, Lee YN, Nigrovic PA, Notarangelo LD. A119: deep sequencing analysis of the T regulatory and T effector repertoire in juvenile idiopathic arthritis. Arthritis Rheumatol. 2014 Mar; 66 Suppl 11:S156.
  54. Shearer WT, Fleisher TA, Buckley RH, Ballas Z, Ballow M, Blaese RM, Bonilla FA, Conley ME, Cunningham-Rundles C, Filipovich AH, Fuleihan R, Gelfand EW, Hernandez-Trujillo V, Holland SM, Hong R, Lederman HM, Malech HL, Miles S, Notarangelo LD, Ochs HD, Orange JS, Puck JM, Routes JM, Stiehm ER, Sullivan K, Torgerson T, Winkelstein J. Recommendations for live viral and bacterial vaccines in immunodeficient patients and their close contacts. J Allergy Clin Immunol. 2014 Apr; 133(4):961-6.
  55. Chinen J, Notarangelo LD, Shearer WT. Advances in basic and clinical immunology in 2013. J Allergy Clin Immunol. 2014 Apr; 133(4):967-76.
  56. Chen K, Wu W, Mathew D, Zhang Y, Browne SK, Rosen LB, McManus MP, Pulsipher MA, Yandell M, Bohnsack JF, Jorde LB, Notarangelo LD, Walter JE. Autoimmunity due to RAG deficiency and estimated disease incidence in RAG1/2 mutations. J Allergy Clin Immunol. 2014 Mar; 133(3):880-2.e10.
  57. Pieper K, Rizzi M, Speletas M, Smulski CR, Sic H, Kraus H, Salzer U, Fiala GJ, Schamel WW, Lougaris V, Plebani A, Hammarstrom L, Recher M, Germenis AE, Grimbacher B, Warnatz K, Rolink AG, Schneider P, Notarangelo LD, Eibel H. A common single nucleotide polymorphism impairs B-cell activating factor receptor's multimerization, contributing to common variable immunodeficiency. J Allergy Clin Immunol. 2014 Apr; 133(4):1222-5.
  58. Notarangelo LD. Combined immunodeficiencies with nonfunctional T lymphocytes. Adv Immunol. 2014; 121:121-90.
  59. Recher M, Karjalainen-Lindsberg ML, Lindlöf M, Söderlund-Venermo M, Lanzi G, Väisänen E, Kumar A, Sadeghi M, Berger CT, Alitalo T, Anttila P, Kolehmainen M, Franssila R, Chen T, Siitonen S, Delmonte OM, Walter JE, Pessach I, Hess C, Simpson MA, Navarini AA, Giliani S, Hedman K, Seppänen M, Notarangelo LD. Genetic variation in schlafen genes in a patient with a recapitulation of the murine Elektra phenotype. J Allergy Clin Immunol. 2014 May; 133(5):1462-5, 1465.e1-5.
  60. Haddad E, Allakhverdi Z, Griffith LM, Cowan MJ, Notarangelo LD. Survey on retransplantation criteria for patients with severe combined immunodeficiency. J Allergy Clin Immunol. 2014 Feb; 133(2):597-9.
  61. Felgentreff K, Siepe M, Kotthoff S, von Kodolitsch Y, Schachtrup K, Notarangelo LD, Walter JE, Ehl S. Severe eczema and Hyper-IgE in Loeys-Dietz-syndrome - contribution to new findings of immune dysregulation in connective tissue disorders. Clin Immunol. 2014 Jan; 150(1):43-50.
  62. Griffith LM, Cowan MJ, Notarangelo LD, Kohn DB, Puck JM, Pai SY, Ballard B, Bauer SC, Bleesing JJ, Boyle M, Brower A, Buckley RH, van der Burg M, Burroughs LM, Candotti F, Cant AJ, Chatila T, Cunningham-Rundles C, Dinauer MC, Dvorak CC, Filipovich AH, Fleisher TA, Bobby Gaspar H, Gungor T, Haddad E, Hovermale E, Huang F, Hurley A, Hurley M, Iyengar S, Kang EM, Logan BR, Long-Boyle JR, Malech HL, McGhee SA, Modell F, Modell V, Ochs HD, O'Reilly RJ, Parkman R, Rawlings DJ, Routes JM, Shearer WT, Small TN, Smith H, Sullivan KE, Szabolcs P, Thrasher A, Torgerson TR, Veys P, Weinberg K, Zuniga-Pflucker JC. Primary Immune Deficiency Treatment Consortium (PIDTC) report. J Allergy Clin Immunol. 2014 Feb; 133(2):335-47.
  63. Notarangelo LD. The long road to optimal management for chronic granulomatous disease. J Allergy Clin Immunol. 2013 Nov; 132(5):1164-5.
  64. Henderson LA, Frugoni F, Hopkins G, de Boer H, Pai SY, Lee YN, Walter JE, Hazen MM, Notarangelo LD. Expanding the spectrum of recombination-activating gene 1 deficiency: a family with early-onset autoimmunity. J Allergy Clin Immunol. 2013 Oct; 132(4):969-71.e1-2.
  65. Dvorak CC, Cowan MJ, Logan BR, Notarangelo LD, Griffith LM, Puck JM, Kohn DB, Shearer WT, O'Reilly RJ, Fleisher TA, Pai SY, Hanson IC, Pulsipher MA, Fuleihan R, Filipovich A, Goldman F, Kapoor N, Small T, Smith A, Chan KW, Cuvelier G, Heimall J, Knutsen A, Loechelt B, Moore T, Buckley RH. The natural history of children with severe combined immunodeficiency: baseline features of the first fifty patients of the primary immune deficiency treatment consortium prospective study 6901. J Clin Immunol. 2013 Oct; 33(7):1156-64.
  66. Notarangelo LD. Into the wild--the use and abuse of stem cells in clinical practice. Am J Hematol. 2013 Jun; 88(6):447-8.
  67. Bousfiha AA, Jeddane L, Ailal F, Al Herz W, Conley ME, Cunningham-Rundles C, Etzioni A, Fischer A, Franco JL, Geha RS, Hammarström L, Nonoyama S, Ochs HD, Roifman CM, Seger R, Tang ML, Puck JM, Chapel H, Notarangelo LD, Casanova JL. A phenotypic approach for IUIS PID classification and diagnosis: guidelines for clinicians at the bedside. J Clin Immunol. 2013 Aug; 33(6):1078-87.
  68. Bacchetta R, Notarangelo LD. Immunodeficiency with autoimmunity: beyond the paradox. Front Immunol. 2013; 4:77.
  69. Carvalho AC, Schumacher RF, Bigoni S, Soncini E, Notarangelo L, Apostoli A, Bonfanti C, Cirillo D, Mantegani P, Porta F, Comelli M, Matteelli A. Contact investigation based on serial interferon-gamma release assays (IGRA) in children from the hematology-oncology ward after exposure to a patient with pulmonary tuberculosis. Infection. 2013 Aug; 41(4):827-31.
  70. Notarangelo LD. Partial defects of T-cell development associated with poor T-cell function. J Allergy Clin Immunol. 2013 May; 131(5):1297-305.
  71. Notarangelo LD. In Wiskott-Aldrich syndrome, platelet count matters. Blood. 2013 Feb 28; 121(9):1484-5.
  72. Parvaneh N, Casanova JL, Notarangelo LD, Conley ME. Primary immunodeficiencies: a rapidly evolving story. J Allergy Clin Immunol. 2013 Feb; 131(2):314-23.
  73. Chinen J, Notarangelo LD, Shearer WT. Advances in basic and clinical immunology in 2012. J Allergy Clin Immunol. 2013 Mar; 131(3):675-82.
  74. Notarangelo LD. Functional T cell immunodeficiencies (with T cells present). Annu Rev Immunol. 2013; 31:195-225.
  75. Poliani PL, Fontana E, Roifman CM, Notarangelo LD. ? Chain-associated protein of 70 kDa (ZAP70) deficiency in human subjects is associated with abnormalities of thymic stromal cells: Implications for T-cell tolerance. J Allergy Clin Immunol. 2013 Feb; 131(2):597-600.e1-2.
  76. Al-Herz W, Alsmadi O, Melhem M, Recher M, Frugoni F, Notarangelo LD. Major histocompatibility complex class II deficiency in Kuwait: clinical manifestations, immunological findings and molecular profile. J Clin Immunol. 2013 Apr; 33(3):513-9.
  77. Abraham RS, Recher M, Giliani S, Walter JE, Lee YN, Frugoni F, Maddox DE, Kirmani S, Notarangelo LD. Adult-onset manifestation of idiopathic T-cell lymphopenia due to a heterozygous RAG1 mutation. J Allergy Clin Immunol. 2013 May; 131(5):1421-3.
  78. Lafaille FG, Pessach IM, Zhang SY, Ciancanelli MJ, Herman M, Abhyankar A, Ying SW, Keros S, Goldstein PA, Mostoslavsky G, Ordovas-Montanes J, Jouanguy E, Plancoulaine S, Tu E, Elkabetz Y, Al-Muhsen S, Tardieu M, Schlaeger TM, Daley GQ, Abel L, Casanova JL, Studer L, Notarangelo LD. Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells. Nature. 2012 Nov 29; 491(7426):769-73.
  79. Rezaei N, Notarangelo LD. Hematopoietic stem cell transplantation for hyper-IgM syndromes. Pediatr Transplant. 2013 Feb; 17(1):1-2.
  80. Henderson LA, Frugoni F, Hopkins G, Al-Herz W, Weinacht K, Comeau AM, Bonilla FA, Notarangelo LD, Pai SY. First reported case of Omenn syndrome in a patient with reticular dysgenesis. J Allergy Clin Immunol. 2013 Apr; 131(4):1227-30, 1230.e1-3.
  81. Chou J, Hanna-Wakim R, Tirosh I, Kane J, Fraulino D, Lee YN, Ghanem S, Mahfouz I, Mégarbané A, Lefranc G, Inati A, Dbaibo G, Giliani S, Notarangelo LD, Geha RS, Massaad MJ. A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome. J Allergy Clin Immunol. 2012 Dec; 130(6):1414-6.
  82. Hernandez-Trujillo HS, Chapel H, Lo Re V, Notarangelo LD, Gathmann B, Grimbacher B, Boyle JM, Hernandez-Trujillo VP, Scalchunes C, Boyle ML, Orange JS. Comparison of American and European practices in the management of patients with primary immunodeficiencies. Clin Exp Immunol. 2012 Jul; 169(1):57-69.
  83. Al-Herz W, Notarangelo LD. Classification of primary immunodeficiency disorders: one-fits-all does not help anymore. Clin Immunol. 2012 Jul; 144(1):24-5.
  84. Al-Herz W, Ragupathy R, Massaad MJ, Al-Attiyah R, Nanda A, Engelhardt KR, Grimbacher B, Notarangelo L, Chatila T, Geha RS. Clinical, immunologic and genetic profiles of DOCK8-deficient patients in Kuwait. Clin Immunol. 2012 Jun; 143(3):266-72.
  85. Westerberg LS, Dahlberg C, Baptista M, Moran CJ, Detre C, Keszei M, Eston MA, Alt FW, Terhorst C, Notarangelo LD, Snapper SB. Wiskott-Aldrich syndrome protein (WASP) and N-WASP are critical for peripheral B-cell development and function. Blood. 2012 Apr 26; 119(17):3966-74.
  86. Lanzi G, Moratto D, Vairo D, Masneri S, Delmonte O, Paganini T, Parolini S, Tabellini G, Mazza C, Savoldi G, Montin D, Martino S, Tovo P, Pessach IM, Massaad MJ, Ramesh N, Porta F, Plebani A, Notarangelo LD, Geha RS, Giliani S. A novel primary human immunodeficiency due to deficiency in the WASP-interacting protein WIP. J Exp Med. 2012 Jan 16; 209(1):29-34.
  87. Notarangelo LD, Tommasini A. Defective and excessive immunities in pediatric diseases. Curr Pharm Des. 2012; 18(35):5729-34.
  88. Wesemann DR, Magee JM, Boboila C, Calado DP, Gallagher MP, Portuguese AJ, Manis JP, Zhou X, Recher M, Rajewsky K, Notarangelo LD, Alt FW. Immature B cells preferentially switch to IgE with increased direct Sµ to Se recombination. J Exp Med. 2011 Dec 19; 208(13):2733-46.
  89. Pessach IM, Notarangelo LD. Primary immunodeficiency modeling with induced pluripotent stem cells. Curr Opin Allergy Clin Immunol. 2011 Dec; 11(6):505-11.
  90. Al-Herz W, Bousfiha A, Casanova JL, Chapel H, Conley ME, Cunningham-Rundles C, Etzioni A, Fischer A, Franco JL, Geha RS, Hammarström L, Nonoyama S, Notarangelo LD, Ochs HD, Puck JM, Roifman CM, Seger R, Tang ML. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol. 2011; 2:54.
  91. Conley ME, Notarangelo LD, Casanova JL. Definition of primary immunodeficiency in 2011: a "trialogue" among friends. Ann N Y Acad Sci. 2011 Nov; 1238:1-6.
  92. Modell V, Gee B, Lewis DB, Orange JS, Roifman CM, Routes JM, Sorensen RU, Notarangelo LD, Modell F. Global study of primary immunodeficiency diseases (PI)--diagnosis, treatment, and economic impact: an updated report from the Jeffrey Modell Foundation. Immunol Res. 2011 Oct; 51(1):61-70.
  93. Notarangelo LD. Regulatory T-like cells: another variation on the theme of hypomorphic mutations? Clin Immunol. 2011 Dec; 141(3):242-3.
  94. Vairo D, Tassone L, Tabellini G, Tamassia N, Gasperini S, Bazzoni F, Plebani A, Porta F, Notarangelo LD, Parolini S, Giliani S, Badolato R. Severe impairment of IFN-? and IFN-a responses in cells of a patient with a novel STAT1 splicing mutation. Blood. 2011 Aug 18; 118(7):1806-17.
  95. Meyers G, Ng YS, Bannock JM, Lavoie A, Walter JE, Notarangelo LD, Kilic SS, Aksu G, Debré M, Rieux-Laucat F, Conley ME, Cunningham-Rundles C, Durandy A, Meffre E. Activation-induced cytidine deaminase (AID) is required for B-cell tolerance in humans. Proc Natl Acad Sci U S A. 2011 Jul 12; 108(28):11554-9.
  96. Notarangelo LD. Correcting CGD safely, iPSo facto. Blood. 2011 May 26; 117(21):5554-6.
  97. de la Fuente MA, Recher M, Rider NL, Strauss KA, Morton DH, Adair M, Bonilla FA, Ochs HD, Gelfand EW, Pessach IM, Walter JE, King A, Giliani S, Pai SY, Notarangelo LD. Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia. J Allergy Clin Immunol. 2011 Jul; 128(1):139-46.
  98. Sponzilli I, Notarangelo LD. Severe combined immunodeficiency (SCID): from molecular basis to clinical management. Acta Biomed. 2011 Apr; 82(1):5-13.
  99. Albert MH, Notarangelo LD, Ochs HD. Clinical spectrum, pathophysiology and treatment of the Wiskott-Aldrich syndrome. Curr Opin Hematol. 2011 Jan; 18(1):42-8.
  100. Hale JE, Bonilla FA, Pai SY, Gerstel-Thompson JL, Notarangelo LD, Eaton RB, Comeau AM. Identification of an infant with severe combined immunodeficiency by newborn screening. J Allergy Clin Immunol. 2010 Nov; 126(5):1073-4.
  101. Wang HY, Gopalan V, Aksentijevich I, Yeager M, Ma CA, Mohamoud YA, Quinones M, Matthews C, Boland J, Niemela JE, Torgerson TR, Giliani S, Uzel G, Orange JS, Shapiro R, Notarangelo L, Ochs HD, Fleisher T, Kastner D, Chanock SJ, Jain A. A custom 148 gene-based resequencing chip and the SNP explorer software: new tools to study antibody deficiency. Hum Mutat. 2010 Sep; 31(9):1080-8.
  102. Notarangelo LD. PIDs and cancer: an evolving story. Blood. 2010 Aug 26; 116(8):1189-90.
  103. Lanzi G, Ferrari S, Vihinen M, Caraffi S, Kutukculer N, Schiaffonati L, Plebani A, Notarangelo LD, Fra AM, Giliani S. Different molecular behavior of CD40 mutants causing hyper-IgM syndrome. Blood. 2010 Dec 23; 116(26):5867-74.
  104. Gennery AR, Slatter MA, Grandin L, Taupin P, Cant AJ, Veys P, Amrolia PJ, Gaspar HB, Davies EG, Friedrich W, Hoenig M, Notarangelo LD, Mazzolari E, Porta F, Bredius RG, Lankester AC, Wulffraat NM, Seger R, Güngör T, Fasth A, Sedlacek P, Neven B, Blanche S, Fischer A, Cavazzana-Calvo M, Landais P. Transplantation of hematopoietic stem cells and long-term survival for primary immunodeficiencies in Europe: entering a new century, do we do better? J Allergy Clin Immunol. 2010 Sep; 126(3):602-10.e1-11.
  105. Al-Herz W, Naguib KK, Notarangelo LD, Geha RS, Alwadaani A. Parental consanguinity and the risk of primary immunodeficiency disorders: report from the Kuwait National Primary Immunodeficiency Disorders Registry. Int Arch Allergy Immunol. 2011; 154(1):76-80.
  106. Walter JE, Rucci F, Patrizi L, Recher M, Regenass S, Paganini T, Keszei M, Pessach I, Lang PA, Poliani PL, Giliani S, Al-Herz W, Cowan MJ, Puck JM, Bleesing J, Niehues T, Schuetz C, Malech H, DeRavin SS, Facchetti F, Gennery AR, Andersson E, Kamani NR, Sekiguchi J, Alenezi HM, Chinen J, Dbaibo G, ElGhazali G, Fontana A, Pasic S, Detre C, Terhorst C, Alt FW, Notarangelo LD. Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency. J Exp Med. 2010 Jul 5; 207(7):1541-54.
  107. Comeau AM, Hale JE, Pai SY, Bonilla FA, Notarangelo LD, Pasternack MS, Meissner HC, Cooper ER, DeMaria A, Sahai I, Eaton RB. Guidelines for implementation of population-based newborn screening for severe combined immunodeficiency. J Inherit Metab Dis. 2010 Oct; 33(Suppl 2):S273-81.
  108. Roifman CM, Fischer A, Notarangelo LD, de la Morena MT, Seger RA. Indications for hemopoietic stem cell transplantation. Immunol Allergy Clin North Am. 2010 May; 30(2):261-2.
  109. Bordon V, Gennery AR, Slatter MA, Vandecruys E, Laureys G, Veys P, Qasim W, Waseem Q, Friedrich W, Wulfraat NM, Scherer F, Cant AJ, Fischer A, Cavazzana-Calvo M, Cavazanna-Calvo M, Bredius RG, Notarangelo LD, Mazzolari E, Neven B, Güngör T, Tayfun G. Clinical and immunologic outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation. Blood. 2010 Jul 8; 116(1):27-35.
  110. Diamond B, Cunningham-Rundles C, Fischer A, Geha R, Notarangelo L, Ochs H, Rotrosen D, Terhorst C. Josiah F. Wedgwood (1950-2009). J Allergy Clin Immunol. 2010 Feb; 125(2):506.
  111. Notarangelo LD. Primary immunodeficiencies. J Allergy Clin Immunol. 2010 Feb; 125(2 Suppl 2):S182-94.
  112. Griffith LM, Cowan MJ, Notarangelo LD, Puck JM, Buckley RH, Candotti F, Conley ME, Fleisher TA, Gaspar HB, Kohn DB, Ochs HD, O'Reilly RJ, Rizzo JD, Roifman CM, Small TN, Shearer WT. Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management. J Allergy Clin Immunol. 2009 Dec; 124(6):1152-60.e12.
  113. Fiorini M, Piovani G, Schumacher RF, Magri C, Bertini V, Mazzolari E, Notarangelo L, Notarangelo LD, Barlati S. ITGB2 mutation combined with deleted ring 21 chromosome in a child with leukocyte adhesion deficiency. J Allergy Clin Immunol. 2009 Dec; 124(6):1356-8.
  114. Notarangelo LD, Casanova JL. Primary immunodeficiencies: increasing market share. Curr Opin Immunol. 2009 Oct; 21(5):461-5.
  115. Tóth B, Volokha A, Mihas A, Pac M, Bernatowska E, Kondratenko I, Polyakov A, Erdos M, Pasic S, Bataneant M, Szaflarska A, Mironska K, Richter D, Stavrik K, Avcin T, Márton G, Nagy K, Dérfalvi B, Szolnoky M, Kalmár A, Belevtsev M, Guseva M, Rugina A, Kriván G, Timár L, Nyul Z, Mosdósi B, Kareva L, Peova S, Chernyshova L, Gherghina I, Serban M, Conley ME, Notarangelo LD, Smith CI, van Dongen J, van der Burg M, Maródi L. Genetic and demographic features of X-linked agammaglobulinemia in Eastern and Central Europe: a cohort study. Mol Immunol. 2009 Jun; 46(10):2140-6.
  116. Pessach I, Walter J, Notarangelo LD. Recent advances in primary immunodeficiencies: identification of novel genetic defects and unanticipated phenotypes. Pediatr Res. 2009 May; 65(5 Pt 2):3R-12R.
  117. Pessach IM, Notarangelo LD. X-linked primary immunodeficiencies as a bridge to better understanding X-chromosome related autoimmunity. J Autoimmun. 2009 Aug; 33(1):17-24.
  118. Mazzolari E, de Martiis D, Forino C, Lanfranchi A, Giliani S, Marzollo R, Airò P, Imberti L, Porta F, Notarangelo LD. Single-center analysis of long-term outcome after hematopoietic cell transplantation in children with congenital severe T cell immunodeficiency. Immunol Res. 2009; 44(1-3):4-17.
  119. Notarangelo L, Day N, Fleisher T. 2nd Conference of the Robert A. Good immunology society primary immune deficiencies and immune reconstitution Harvard Medical Boston, November 16th, 17th. Immunol Res. 2009; 44(1-3):1-3.
  120. Eyerich K, Cifaldi L, Notarangelo LD, Porta F, Notarangelo L, Mazzolari E, Fiorini M, Paradisi A, Cavani A. Chronic eczema in a patient with Leukocyte Adhesion Deficiency (LAD) type I. Eur J Dermatol. 2009 Jan-Feb; 19(1):78-9.
  121. Notarangelo LD. Primary immunodeficiencies (PIDs) presenting with cytopenias. Hematology Am Soc Hematol Educ Program. 2009; 139-43.
  122. Oliveira JB, Notarangelo LD, Fleisher TA. Applications of flow cytometry for the study of primary immune deficiencies. Curr Opin Allergy Clin Immunol. 2008 Dec; 8(6):499-509.
  123. Notarangelo LD, Roifman CM, Giliani S. Cartilage-hair hypoplasia: molecular basis and heterogeneity of the immunological phenotype. Curr Opin Allergy Clin Immunol. 2008 Dec; 8(6):534-9.
  124. Shearer WT, Notarangelo LD, Griffith LM. Treatment of immunodeficiency: long-term outcome and quality of life. J Allergy Clin Immunol. 2008 Dec; 122(6):1065-8.
  125. Ozcan E, Notarangelo LD, Geha RS. Primary immune deficiencies with aberrant IgE production. J Allergy Clin Immunol. 2008 Dec; 122(6):1054-62; quiz 1063-4.
  126. Notarangelo LD, Pessach I. Out of breath: GM-CSFRalpha mutations disrupt surfactant homeostasis. J Exp Med. 2008 Nov 24; 205(12):2693-7.
  127. Griffith LM, Cowan MJ, Kohn DB, Notarangelo LD, Puck JM, Schultz KR, Buckley RH, Eapen M, Kamani NR, O'Reilly RJ, Parkman R, Roifman CM, Sullivan KE, Filipovich AH, Fleisher TA, Shearer WT. Allogeneic hematopoietic cell transplantation for primary immune deficiency diseases: current status and critical needs. J Allergy Clin Immunol. 2008 Dec; 122(6):1087-96.
  128. Notarangelo LD, Sorensen R. Is it necessary to identify molecular defects in primary immunodeficiency disease? J Allergy Clin Immunol. 2008 Dec; 122(6):1069-73.
  129. Roifman CM, Berger M, Notarangelo LD. Management of primary antibody deficiency with replacement therapy: summary of guidelines. Immunol Allergy Clin North Am. 2008 Nov; 28(4):875-6, x.
  130. Parini R, Furlan F, Notarangelo L, Spinazzola A, Uziel G, Strisciuglio P, Concolino D, Corbetta C, Nebbia G, Menni F, Rossi G, Maggioni M, Zeviani M. Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients. J Hepatol. 2009 Jan; 50(1):215-21.
  131. Kavadas FD, Giliani S, Gu Y, Mazzolari E, Bates A, Pegoiani E, Roifman CM, Notarangelo LD. Variability of clinical and laboratory features among patients with ribonuclease mitochondrial RNA processing endoribonuclease gene mutations. J Allergy Clin Immunol. 2008 Dec; 122(6):1178-84.
  132. Westerberg LS, de la Fuente MA, Wermeling F, Ochs HD, Karlsson MC, Snapper SB, Notarangelo LD. WASP confers selective advantage for specific hematopoietic cell populations and serves a unique role in marginal zone B-cell homeostasis and function. Blood. 2008 Nov 15; 112(10):4139-47.
  133. Porcu E, Venturoli S, Damiano G, Ciotti PM, Notarangelo L, Paradisi R, Moscarini M, Ambrosini G. Healthy twins delivered after oocyte cryopreservation and bilateral ovariectomy for ovarian cancer. Reprod Biomed Online. 2008 Aug; 17(2):265-7.
  134. Fleisher TA, Notarangelo LD. What does it take to call it a pathogenic mutation? Clin Immunol. 2008 Sep; 128(3):285-6.
  135. Porta F, Forino C, De Martiis D, Soncini E, Notarangelo L, Tettoni K, D'Ippolito C, Soresina R, Shiha K, Berta S, Baffelli R, Bolda F, Bosi A, Schumacher FR, Lanfranchi A, Mazzolari E. Stem cell transplantation for primary immunodeficiencies. Bone Marrow Transplant. 2008 Jun; 41 Suppl 2:S83-6.
  136. Notarangelo LD, Miao CH, Ochs HD. Wiskott-Aldrich syndrome. Curr Opin Hematol. 2008 Jan; 15(1):30-6.
  137. Stewart DM, Tian L, Notarangelo LD, Nelson DL. X-linked hypogammaglobulinemia and isolated growth hormone deficiency: an update. Immunol Res. 2008; 40(3):262-70.
  138. Guarnaccia S, Lombardi A, Gaffurini A, Chiarini M, Domenighini S, D'Agata E, Schumacher RF, Spiazzi R, Notarangelo LD. Application and implementation of the GINA asthma guidelines by specialist and primary care physicians: a longitudinal follow-up study on 264 children. Prim Care Respir J. 2007 Dec; 16(6):357-62.
  139. Martire B, Rondelli R, Soresina A, Pignata C, Broccoletti T, Finocchi A, Rossi P, Gattorno M, Rabusin M, Azzari C, Dellepiane RM, Pietrogrande MC, Trizzino A, Di Bartolomeo P, Martino S, Carpino L, Cossu F, Locatelli F, Maccario R, Pierani P, Putti MC, Stabile A, Notarangelo LD, Ugazio AG, Plebani A, De Mattia D. Clinical features, long-term follow-up and outcome of a large cohort of patients with Chronic Granulomatous Disease: an Italian multicenter study. Clin Immunol. 2008 Feb; 126(2):155-64.
  140. Maródi L, Notarangelo LD. Immunological and genetic bases of new primary immunodeficiencies. Nat Rev Immunol. 2007 Nov; 7(11):851-61.
  141. Notarangelo LD, Rawlings DJ, Sullivan KE. An exemplum of XLA. Clin Immunol. 2008 Feb; 126(2):137-9.
  142. Ozsahin H, Cavazzana-Calvo M, Notarangelo LD, Schulz A, Thrasher AJ, Mazzolari E, Slatter MA, Le Deist F, Blanche S, Veys P, Fasth A, Bredius R, Sedlacek P, Wulffraat N, Ortega J, Heilmann C, O'Meara A, Wachowiak J, Kalwak K, Matthes-Martin S, Gungor T, Ikinciogullari A, Landais P, Cant AJ, Friedrich W, Fischer A. Long-term outcome following hematopoietic stem-cell transplantation in Wiskott-Aldrich syndrome: collaborative study of the European Society for Immunodeficiencies and European Group for Blood and Marrow Transplantation. Blood. 2008 Jan 1; 111(1):439-45.
  143. Matangkasombut P, Pichavant M, Saez DE, Giliani S, Mazzolari E, Finocchi A, Villa A, Sobacchi C, Cortes P, Umetsu DT, Notarangelo LD. Lack of iNKT cells in patients with combined immune deficiency due to hypomorphic RAG mutations. Blood. 2008 Jan 1; 111(1):271-4.
  144. Mazzolari E, Forino C, Guerci S, Imberti L, Lanfranchi A, Porta F, Notarangelo LD. Long-term immune reconstitution and clinical outcome after stem cell transplantation for severe T-cell immunodeficiency. J Allergy Clin Immunol. 2007 Oct; 120(4):892-9.
  145. Moratto D, Giliani S, Notarangelo LD, Mazza C, Mazzolari E, Notarangelo LD. The Wiskott-Aldrich syndrome: from genotype-phenotype correlation to treatment. Expert Rev Clin Immunol. 2007 Sep; 3(5):813-24.
  146. Erdos M, Lakos G, Dérfalvi B, Notarangelo LD, Durandy A, Maródi L. Molecular genetic analysis of Hungarian patients with the hyper-immunoglobulin M syndrome. Mol Immunol. 2008 Jan; 45(1):278-82.
  147. Mazzolari E, Lanzi G, Forino C, Lanfranchi A, Aksu G, Ozturk C, Giliani S, Notarangelo LD, Kutukculer N. First report of successful stem cell transplantation in a child with CD40 deficiency. Bone Marrow Transplant. 2007 Aug; 40(3):279-81.
  148. Poliani PL, Mitola S, Ravanini M, Ferrari-Toninelli G, D'Ippolito C, Notarangelo LD, Bercich L, Wagener C, Memo M, Presta M, Facchetti F. CEACAM1/VEGF cross-talk during neuroblastic tumour differentiation. J Pathol. 2007 Apr; 211(5):541-9.
  149. Maròdi L, Notarangelo LD. Education and worldwide collaboration pays off. Nat Immunol. 2007 Apr; 8(4):323-4.
  150. Donini M, Fontana S, Savoldi G, Vermi W, Tassone L, Gentili F, Zenaro E, Ferrari D, Notarangelo LD, Porta F, Facchetti F, Notarangelo LD, Dusi S, Badolato R. G-CSF treatment of severe congenital neutropenia reverses neutropenia but does not correct the underlying functional deficiency of the neutrophil in defending against microorganisms. Blood. 2007 Jun 1; 109(11):4716-23.
  151. Castriconi R, Dondero A, Cantoni C, Della Chiesa M, Prato C, Nanni M, Fiorini M, Notarangelo L, Parolini S, Moretta L, Notarangelo L, Moretta A, Bottino C. Functional characterization of natural killer cells in type I leukocyte adhesion deficiency. Blood. 2007 Jun 1; 109(11):4873-81.
  152. Notarangelo LD, Lanzi G, Toniati P, Giliani S. Immunodeficiencies due to defects of class-switch recombination. Immunol Res. 2007; 38(1-3):68-77.
  153. Roifman CM, Grunebaum E, Dalal I, Notarangelo L. Matched unrelated bone marrow transplant for severe combined immunodeficiency. Immunol Res. 2007; 38(1-3):191-200.
  154. Notarangelo LD, Plebani A, Mazzolari E, Soresina A, Bondioni MP. Genetic causes of bronchiectasis: primary immune deficiencies and the lung. Respiration. 2007; 74(3):264-75.
  155. Stewart DM, Tian L, Notarangelo LD, Nelson DL. X-linked hypogammaglobulinemia and isolated growth hormone deficiency: an update. Immunol Res. 2007; 38(1-3):391-9.
  156. Notarangelo LD, Forino C, Mazzolari E. Stem cell transplantation in primary immunodeficiencies. Curr Opin Allergy Clin Immunol. 2006 Dec; 6(6):443-8.
  157. Marchetti F, Bua J, Ventura A, Notarangelo LD, Di Maio S, Migliore G, Bonati M. The awareness among paediatricians of off-label prescribing in children: a survey of Italian hospitals. Eur J Clin Pharmacol. 2007 Jan; 63(1):81-5.
  158. Pai SY, DeMartiis D, Forino C, Cavagnini S, Lanfranchi A, Giliani S, Moratto D, Mazza C, Porta F, Imberti L, Notarangelo LD, Mazzolari E. Stem cell transplantation for the Wiskott-Aldrich syndrome: a single-center experience confirms efficacy of matched unrelated donor transplantation. Bone Marrow Transplant. 2006 Nov; 38(10):671-9.
  159. Aghamohammadi A, Fiorini M, Moin M, Parvaneh N, Teimourian S, Yeganeh M, Goffi F, Kanegane H, Amirzargar AA, Pourpak Z, Rezaei N, Salavati A, Pouladi N, Abdollahzade S, Notarangelo LD, Miyawaki T, Plebani A. Clinical, immunological and molecular characteristics of 37 Iranian patients with X-linked agammaglobulinemia. Int Arch Allergy Immunol. 2006; 141(4):408-14.
  160. Santoro A, Cannella S, Bossi G, Gallo F, Trizzino A, Pende D, Dieli F, Bruno G, Stinchcombe JC, Micalizzi C, De Fusco C, Danesino C, Moretta L, Notarangelo LD, Griffiths GM, Aricò M. Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis. J Med Genet. 2006 Dec; 43(12):953-60.
  161. Notarangelo LD, Mazzolari E. Natural killer cell deficiencies and severe varicella infection. J Pediatr. 2006 Apr; 148(4):563-4; author reply 564.
  162. Notarangelo L, Casanova JL, Conley ME, Chapel H, Fischer A, Puck J, Roifman C, Seger R, Geha RS. Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee Meeting in Budapest, 2005. J Allergy Clin Immunol. 2006 Apr; 117(4):883-96.
  163. Notarangelo LD, Lanzi G, Peron S, Durandy A. Defects of class-switch recombination. J Allergy Clin Immunol. 2006 Apr; 117(4):855-64.
  164. Fontana S, Parolini S, Vermi W, Booth S, Gallo F, Donini M, Benassi M, Gentili F, Ferrari D, Notarangelo LD, Cavadini P, Marcenaro E, Dusi S, Cassatella M, Facchetti F, Griffiths GM, Moretta A, Notarangelo LD, Badolato R. Innate immunity defects in Hermansky-Pudlak type 2 syndrome. Blood. 2006 Jun 15; 107(12):4857-64.
  165. Pilotta A, Mella P, Filisetti M, Felappi B, Prandi E, Parrinello G, Notarangelo LD, Buzi F. Common polymorphisms of the growth hormone (GH) receptor do not correlate with the growth response to exogenous recombinant human GH in GH-deficient children. J Clin Endocrinol Metab. 2006 Mar; 91(3):1178-80.
  166. Notarangelo LD, Gambineri E, Badolato R. Immunodeficiencies with autoimmune consequences. Adv Immunol. 2006; 89:321-70.
  167. Notarangelo LD, Notarangelo LD, Ochs HD. WASP and the phenotypic range associated with deficiency. Curr Opin Allergy Clin Immunol. 2005 Dec; 5(6):485-90.
  168. Stewart DM, Tian L, Notarangelo LD, Nelson DL. Update on X-linked hypogammaglobulinemia with isolated growth hormone deficiency. Curr Opin Allergy Clin Immunol. 2005 Dec; 5(6):510-2.
  169. Losi CG, Silini A, Fiorini C, Soresina A, Meini A, Ferrari S, Notarangelo LD, Lougaris V, Plebani A. Mutational analysis of human BAFF receptor TNFRSF13C (BAFF-R) in patients with common variable immunodeficiency. J Clin Immunol. 2005 Sep; 25(5):496-502.
  170. Badolato R, Schumacher RF, Rodella E, Gargiulo F, Torti C, Notarangelo LD, Duse M. Genotyping for guiding drug choice in human immunodeficiency virus-infected children failing multiple antiretroviral treatment regimens. Pediatr Infect Dis J. 2005 Aug; 24(8):747-9.
  171. Ochs HD, Notarangelo LD. Structure and function of the Wiskott-Aldrich syndrome protein. Curr Opin Hematol. 2005 Jul; 12(4):284-91.
  172. Musio A, Marrella V, Sobacchi C, Rucci F, Fariselli L, Giliani S, Lanzi G, Notarangelo LD, Delia D, Colombo R, Vezzoni P, Villa A. Damaging-agent sensitivity of Artemis-deficient cell lines. Eur J Immunol. 2005 Apr; 35(4):1250-6.
  173. Trambas C, Gallo F, Pende D, Marcenaro S, Moretta L, De Fusco C, Santoro A, Notarangelo L, Arico M, Griffiths GM. A single amino acid change, A91V, leads to conformational changes that can impair processing to the active form of perforin. Blood. 2005 Aug 1; 106(3):932-7.
  174. Notarangelo LD, Mori L. Wiskott-Aldrich syndrome: another piece in the puzzle. Clin Exp Immunol. 2005 Feb; 139(2):173-5.
  175. Giliani S, Mori L, de Saint Basile G, Le Deist F, Rodriguez-Perez C, Forino C, Mazzolari E, Dupuis S, Elhasid R, Kessel A, Galambrun C, Gil J, Fischer A, Etzioni A, Notarangelo LD. Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients. Immunol Rev. 2005 Feb; 203:110-26.
  176. Cosentini A, Stranieri G, Capillo S, Notarangelo L, Madonna L, Iannini S, Ferro V, Defilippo V, Defilippo RG, Rubino R. Acute pancreatitis in the paediatric age group: a personal experience. Eur Rev Med Pharmacol Sci. 2005 Jan-Feb; 9(1):33-40.
  177. Fiorini C, Jilani S, Losi CG, Silini A, Giliani S, Ferrari S, Notarangelo LD, Plebani A, Sfar T, Helal A. A novel activation-induced cytidine deaminase gene mutation in a Tunisian family with hyper IgM syndrome. Eur J Pediatr. 2004 Dec; 163(12):704-8.
  178. Plebani A, Soresina A, Notarangelo LD, Quinti I, Mattia DD, Moschese V, Rondelli R, Pession A, Ugazio AG. The italian network of primary immunodeficiencies. Iran J Allergy Asthma Immunol. 2004 Dec; 3(4):165-8.
  179. Notarangelo LD, Mazza C, Forino C, Mazzolari E, Buzi F. AIRE and immunological tolerance: insights from the study of autoimmune polyendocrinopathy candidiasis and ectodermal dystrophy. Curr Opin Allergy Clin Immunol. 2004 Dec; 4(6):491-6.
  180. Vulcano M, Dusi S, Lissandrini D, Badolato R, Mazzi P, Riboldi E, Borroni E, Calleri A, Donini M, Plebani A, Notarangelo L, Musso T, Sozzani S. Toll receptor-mediated regulation of NADPH oxidase in human dendritic cells. J Immunol. 2004 Nov 1; 173(9):5749-56.
  181. Ciotti PM, Notarangelo L, Morselli-Labate AM, Felletti V, Porcu E, Venturoli S. First polar body morphology before ICSI is not related to embryo quality or pregnancy rate. Hum Reprod. 2004 Oct; 19(10):2334-9.
  182. Notarangelo L, Casanova JL, Fischer A, Puck J, Rosen F, Seger R, Geha R. Primary immunodeficiency diseases: an update. J Allergy Clin Immunol. 2004 Sep; 114(3):677-87.
  183. Badolato R, Fontana S, Barcella L, Moratto D, D'ippolito C, Crovella S, Notarangelo LD, Duse M. Toll-like receptor-4 genotype in children with respiratory infections. Allergy. 2004 Sep; 59(9):1018-9.
  184. Ochs HD, Notarangelo LD. X-linked immunodeficiencies. Curr Allergy Asthma Rep. 2004 Sep; 4(5):339-48.
  185. Pasic S, Vujic D, Fiorini M, Notarangelo LD. T-cell lymphoblastic leukemia/lymphoma in Nijmegen breakage syndrome. Haematologica. 2004 Aug; 89(8):ECR27.
  186. Di Cataldo A, Bertuna G, Mirabile E, Munda S, Tettoni K, Notarangelo LD, Facchetti F, Lo Nigro L. Natural killer lymphoma/leukemia: an uncommon pediatric case with indolent course. Leuk Lymphoma. 2004 Aug; 45(8):1687-9.
  187. Jin Y, Mazza C, Christie JR, Giliani S, Fiorini M, Mella P, Gandellini F, Stewart DM, Zhu Q, Nelson DL, Notarangelo LD, Ochs HD. Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. Blood. 2004 Dec 15; 104(13):4010-9.
  188. Pirovano S, Notarangelo LD, Malacarne F, Mazzolari E, Porta F, Lanfranchi A, Giliani S, Zucca S, Pecorelli S, Albertini A, Ugazio AG, Imberti L. Reconstitution of T-cell compartment after in utero stem cell transplantation: analysis of T-cell repertoire and thymic output. Haematologica. 2004 Apr; 89(4):450-61.
  189. Gulino AV, Moratto D, Sozzani S, Cavadini P, Otero K, Tassone L, Imberti L, Pirovano S, Notarangelo LD, Soresina R, Mazzolari E, Nelson DL, Notarangelo LD, Badolato R. Altered leukocyte response to CXCL12 in patients with warts hypogammaglobulinemia, infections, myelokathexis (WHIM) syndrome. Blood. 2004 Jul 15; 104(2):444-52.
  190. Gismondi A, Cifaldi L, Mazza C, Giliani S, Parolini S, Morrone S, Jacobelli J, Bandiera E, Notarangelo L, Santoni A. Impaired natural and CD16-mediated NK cell cytotoxicity in patients with WAS and XLT: ability of IL-2 to correct NK cell functional defect. Blood. 2004 Jul 15; 104(2):436-43.
  191. Fiorini M, Franceschini R, Soresina A, Schumacher RF, Ugazio AG, Rossi P, Plebani A, Notarangelo LD. BTK: 22 novel and 25 recurrent mutations in European patients with X-linked agammaglobulinemia. Hum Mutat. 2004 Mar; 23(3):286.
  192. Conley ME, Saragoussi D, Notarangelo L, Etzioni A, Casanova JL. An international study examining therapeutic options used in treatment of Wiskott-Aldrich syndrome. Clin Immunol. 2003 Dec; 109(3):272-7.
  193. Gennery AR, Khawaja K, Veys P, Bredius RG, Notarangelo LD, Mazzolari E, Fischer A, Landais P, Cavazzana-Calvo M, Friedrich W, Fasth A, Wulffraat NM, Matthes-Martin S, Bensoussan D, Bordigoni P, Lange A, Pagliuca A, Andolina M, Cant AJ, Davies EG. Treatment of CD40 ligand deficiency by hematopoietic stem cell transplantation: a survey of the European experience, 1993-2002. Blood. 2004 Feb 1; 103(3):1152-7.
  194. Notarangelo LD, Ochs HD. Wiskott-Aldrich Syndrome: a model for defective actin reorganization, cell trafficking and synapse formation. Curr Opin Immunol. 2003 Oct; 15(5):585-91.
  195. Frattini A, Pangrazio A, Susani L, Sobacchi C, Mirolo M, Abinun M, Andolina M, Flanagan A, Horwitz EM, Mihci E, Notarangelo LD, Ramenghi U, Teti A, Van Hove J, Vujic D, Young T, Albertini A, Orchard PJ, Vezzoni P, Villa A. Chloride channel ClCN7 mutations are responsible for severe recessive, dominant, and intermediate osteopetrosis. J Bone Miner Res. 2003 Oct; 18(10):1740-7.
  196. Calzavara Pinton P, Porta F, Izzi T, Venturini M, Capezzera R, Zane C, Notarangelo LD. Prospects for ultraviolet A1 phototherapy as a treatment for chronic cutaneous graft-versus-host disease. Haematologica. 2003 Oct; 88(10):1169-75.
  197. Fontana S, Moratto D, Mangal S, De Francesco M, Vermi W, Ferrari S, Facchetti F, Kutukculer N, Fiorini C, Duse M, Das PK, Notarangelo LD, Plebani A, Badolato R. Functional defects of dendritic cells in patients with CD40 deficiency. Blood. 2003 Dec 1; 102(12):4099-106.
  198. Buzi F, Badolato R, Mazza C, Giliani S, Notarangelo LD, Radetti G, Plebani A, Notarangelo LD. Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome: time to review diagnostic criteria? J Clin Endocrinol Metab. 2003 Jul; 88(7):3146-8.
  199. Gulino AV, Notarangelo LD. Hyper IgM syndromes. Curr Opin Rheumatol. 2003 Jul; 15(4):422-9.
  200. Kutukculer N, Aksoylar S, Kansoy S, Cetingul N, Notarangelo LD. Outcome of hematopoietic stem cell transplantation in hyper-IgM syndrome caused by CD40 deficiency. J Pediatr. 2003 Jul; 143(1):141-2.
  201. Badolato R, Notarangelo LD, Plebani A, Roos D. Development of systemic lupus erythematosus in a young child affected with chronic granulomatous disease following withdrawal of treatment with interferon-gamma. Rheumatology (Oxford). 2003 Jun; 42(6):804-5.
  202. Brodeur SR, Angelini F, Bacharier LB, Blom AM, Mizoguchi E, Fujiwara H, Plebani A, Notarangelo LD, Dahlback B, Tsitsikov E, Geha RS. C4b-binding protein (C4BP) activates B cells through the CD40 receptor. Immunity. 2003 Jun; 18(6):837-48.
  203. Pirovano S, Mazzolari E, Pasic S, Albertini A, Notarangelo LD, Imberti L. Impaired thymic output and restricted T-cell repertoire in two infants with immunodeficiency and early-onset generalized dermatitis. Immunol Lett. 2003 Mar 3; 86(1):93-7.
  204. Notarangelo LD, Giliani S, Mazzolari E, Gulino AV. Primary immune deficiencies unravel the molecular basis of immune response. Rev Clin Exp Hematol. 2003 Mar; 7(1):84-111.
  205. Kutukculer N, Moratto D, Aydinok Y, Lougaris V, Aksoylar S, Plebani A, Genel F, Notarangelo LD. Disseminated cryptosporidium infection in an infant with hyper-IgM syndrome caused by CD40 deficiency. J Pediatr. 2003 Feb; 142(2):194-6.
  206. Del Giudice E, Savoldi G, Notarangelo LD, Di Benedetto L, Manganelli F, Bruzzese E, Romano A, Santoro L. Acute inflammatory demyelinating polyradiculoneuropathy associated with perforin-deficient familial haemophagocytic lymphohistiocytosis. Acta Paediatr. 2003; 92(3):398-401.
  207. Alberti D, Borsellino A, Locatelli C, Nani R, Cheli M, Torre G, Notarangelo L, Locatelli G. Percutaneous transhepatic alcoholization: a new therapeutic strategy in children with chronic granulomatous disease and liver abscess. Pediatr Infect Dis J. 2002 Nov; 21(11):1081-3.
  208. Fiorini M, Vermi W, Facchetti F, Moratto D, Alessandri G, Notarangelo L, Caruso A, Grigolato P, Ugazio AG, Notarangelo LD, Badolato R. Defective migration of monocyte-derived dendritic cells in LAD-1 immunodeficiency. J Leukoc Biol. 2002 Oct; 72(4):650-6.
  209. Tommasini A, Ferrari S, Moratto D, Badolato R, Boniotto M, Pirulli D, Notarangelo LD, Andolina M. X-chromosome inactivation analysis in a female carrier of FOXP3 mutation. Clin Exp Immunol. 2002 Oct; 130(1):127-30.
  210. Plebani A, Soresina A, Rondelli R, Amato GM, Azzari C, Cardinale F, Cazzola G, Consolini R, De Mattia D, Dell'Erba G, Duse M, Fiorini M, Martino S, Martire B, Masi M, Monafo V, Moschese V, Notarangelo LD, Orlandi P, Panei P, Pession A, Pietrogrande MC, Pignata C, Quinti I, Ragno V, Rossi P, Sciotto A, Stabile A. Clinical, immunological, and molecular analysis in a large cohort of patients with X-linked agammaglobulinemia: an Italian multicenter study. Clin Immunol. 2002 Sep; 104(3):221-30.
  211. Leone V, Tommasini A, Andolina M, Runti G, De Vonderweid U, Campello C, Notarangelo LD, Ventura A. Elective bone marrow transplantation in a child with X-linked hyper-IgM syndrome presenting with acute respiratory distress syndrome. Bone Marrow Transplant. 2002 Jul; 30(1):49-52.
  212. Candotti F, Notarangelo L, Visconti R, O'Shea J. Molecular aspects of primary immunodeficiencies: lessons from cytokine and other signaling pathways. J Clin Invest. 2002 May; 109(10):1261-9.
  213. Bartolomé J, Porta F, Lafranchi A, Rodríguez-Molina JJ, Cela E, Cantalejo A, Fernández-Cruz E, Gómez-Pineda A, Ugazio AG, Notarangelo LD, Gil J. B cell function after haploidentical in utero bone marrow transplantation in a patient with severe combined immunodeficiency. Bone Marrow Transplant. 2002 Apr; 29(7):625-8.
  214. Notarangelo LD, Mazza C, Giliani S, D'Aria C, Gandellini F, Ravelli C, Locatelli MG, Nelson DL, Ochs HD, Notarangelo LD. Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia. Blood. 2002 Mar 15; 99(6):2268-9.
  215. Ziegner UH, Kobayashi RH, Cunningham-Rundles C, Español T, Fasth A, Huttenlocher A, Krogstad P, Marthinsen L, Notarangelo LD, Pasic S, Rieger CH, Rudge P, Sankar R, Shigeoka AO, Stiehm ER, Sullivan KE, Webster AD, Ochs HD. Progressive neurodegeneration in patients with primary immunodeficiency disease on IVIG treatment. Clin Immunol. 2002 Jan; 102(1):19-24.
  216. Ferrari S, Giliani S, Insalaco A, Al-Ghonaium A, Soresina AR, Loubser M, Avanzini MA, Marconi M, Badolato R, Ugazio AG, Levy Y, Catalan N, Durandy A, Tbakhi A, Notarangelo LD, Plebani A. Mutations of CD40 gene cause an autosomal recessive form of immunodeficiency with hyper IgM. Proc Natl Acad Sci U S A. 2001 Oct 23; 98(22):12614-9.
  217. Console D, Tamburrini S, Barresi D, Notarangelo L, Bertucci B, Tamburrini O. [The value of the MR imaging in the evaluation of Müllerian duct anomalies]. Radiol Med. 2001 Oct; 102(4):226-32.
  218. Sobacchi C, Frattini A, Orchard P, Porras O, Tezcan I, Andolina M, Babul-Hirji R, Baric I, Canham N, Chitayat D, Dupuis-Girod S, Ellis I, Etzioni A, Fasth A, Fisher A, Gerritsen B, Gulino V, Horwitz E, Klamroth V, Lanino E, Mirolo M, Musio A, Matthijs G, Nonomaya S, Notarangelo LD, Ochs HD, Superti Furga A, Valiaho J, van Hove JL, Vihinen M, Vujic D, Vezzoni P, Villa A. The mutational spectrum of human malignant autosomal recessive osteopetrosis. Hum Mol Genet. 2001 Aug 15; 10(17):1767-73.
  219. Richter BW, Mir SS, Eiben LJ, Lewis J, Reffey SB, Frattini A, Tian L, Frank S, Youle RJ, Nelson DL, Notarangelo LD, Vezzoni P, Fearnhead HO, Duckett CS. Molecular cloning of ILP-2, a novel member of the inhibitor of apoptosis protein family. Mol Cell Biol. 2001 Jul; 21(13):4292-301.
  220. Jayoussi-Assalia R, Etzioni A, Notarangelo LD, Brill-Zamir R, Kasinetz L, Kadouri E, Gershoni-Baruch R. Prenatal diagnosis of X-linked hyper-IGM syndrome by direct detection of mutation Q220X in the CD40L gene using PCR-mediated site directed mutagenesis. Prenat Diagn. 2000 Oct; 20(10):822-3.
  221. Sacco MG, Ungari M, Catò EM, Villa A, Strina D, Notarangelo LD, Jonkers J, Zecca L, Facchetti F, Vezzoni P. Lymphoid abnormalities in CD40 ligand transgenic mice suggest the need for tight regulation in gene therapy approaches to hyper immunoglobulin M (IgM) syndrome. Cancer Gene Ther. 2000 Oct; 7(10):1299-306.
  222. Wiszniewski W, Fondaneche MC, Lambert N, Masternak K, Picard C, Notarangelo L, Schwartz K, Bal J, Reith W, Alcaide C, de Saint Basile G, Fischer A, Lisowska-Grospierre B. Founder effect for a 26-bp deletion in the RFXANK gene in North African major histocompatibility complex class II-deficient patients belonging to complementation group B. Immunogenetics. 2000 Apr; 51(4-5):261-7.
  223. Cavagni G, Caffarelli C, Facchetti F, Brugnoni D, Notarangelo LD, Tosoni C, Altobelli R. Cutaneous CD30+ cells in children with atopic dermatitis. Int Arch Allergy Immunol. 2000 Mar; 121(3):224-8.
  224. Conley ME, Notarangelo LD, Etzioni A. Diagnostic criteria for primary immunodeficiencies. Representing PAGID (Pan-American Group for Immunodeficiency) and ESID (European Society for Immunodeficiencies). Clin Immunol. 1999 Dec; 93(3):190-7.
  225. Gil J, Porta F, Bartolomé J, Lafranchi A, Verardi R, Notarangelo LD, Carlo-Stella C, Rodríguez R, Rodríguez JJ, Gurbindo D, Cela E, Zucca A, Fernández-Cruz E, Ugazio AG. Immune reconstitution after in utero bone marrow transplantation in a fetus with severe combined immunodeficiency with natural killer cells. Transplant Proc. 1999 Sep; 31(6):2581.
  226. Lacroix-Desmazes S, Resnick I, Stahl D, Mouthon L, Espanol T, Levy J, Kaveri SV, Notarangelo L, Eibl M, Fischer A, Ochs H, Kazatchkine MD. Defective self-reactive antibody repertoire of serum IgM in patients with hyper-IgM syndrome. J Immunol. 1999 May 1; 162(9):5601-8.
  227. Facchetti F, Chan JK, Zhang W, Tironi A, Chilosi M, Parolini S, Notarangelo LD, Samelson LE. Linker for activation of T cells (LAT), a novel immunohistochemical marker for T cells, NK cells, mast cells, and megakaryocytes: evaluation in normal and pathological conditions. Am J Pathol. 1999 Apr; 154(4):1037-46.
  228. Vermi W, Blanzuoli L, Kraus MD, Grigolato P, Donato F, Loffredo G, Marino CE, Alberti D, Notarangelo LD, Facchetti F. The spleen in the Wiskott-Aldrich syndrome: histopathologic abnormalities of the white pulp correlate with the clinical phenotype of the disease. Am J Surg Pathol. 1999 Feb; 23(2):182-91.
  229. Facchetti F, Vermi W, Fiorentini S, Chilosi M, Caruso A, Duse M, Notarangelo LD, Badolato R. Expression of inducible nitric oxide synthase in human granulomas and histiocytic reactions. Am J Pathol. 1999 Jan; 154(1):145-52.
  230. Giliani S, Fiorini M, Mella P, Candotti F, Schumacher RF, Wengler GS, Lalatta F, Fasth A, Badolato R, Ugazio AG, Albertini A, Notarangelo LD. Prenatal molecular diagnosis of Wiskott-Aldrich syndrome by direct mutation analysis. Prenat Diagn. 1999 Jan; 19(1):36-40.
  231. Wengler GS, Giliani S, Fiorini M, Mella P, Mantuano E, Zanola A, Pollonini G, Eibl MM, Ugazio AG, Notarangelo LD, Parolini O. Mutation analysis by a non-radioactive single-strand conformation polymorphism assay in nine families with X-linked severe combined immunodeficiency (SCIDX1). Br J Haematol. 1998 Jun; 101(3):586-91.
  232. Facchetti F, Blanzuoli L, Vermi W, Notarangelo LD, Giliani S, Fiorini M, Fasth A, Stewart DM, Nelson DL. Defective actin polymerization in EBV-transformed B-cell lines from patients with the Wiskott-Aldrich syndrome. J Pathol. 1998 May; 185(1):99-107.
  233. Schumacher RF, Arrighini A, Alberti D, Badolato R, Fiorini M, Notarangelo L, Notarangelo LD, Ugazio AG. Ureteral obstruction in a patient with chronic granulomatous disease, receiving combined prophylaxis with IFN-gamma and antibiotics. Eur J Pediatr. 1998 Apr; 157(4):352-3.
  234. Ramesh N, Seki M, Notarangelo LD, Geha RS. The hyper-IgM (HIM) syndrome. Springer Semin Immunopathol. 1998; 19(4):383-99.
  235. Arrendondo-Vega FX, Santisteban I, Notarangelo LD, El Dahr J, Buckley R, Roifman C, Conley ME, Hershfield MS. Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del. Mutations in brief no. 142. Online. Hum Mutat. 1998; 11(6):482.
  236. Notarangelo LD. Genetics and treatment of primary immunodeficiencies. Introduction. Springer Semin Immunopathol. 1998; 19(4):363-7.
  237. Brugnoni D, Airò P, Facchetti F, Blanzuoli L, Ugazio AG, Cattaneo R, Notarangelo LD. In vitro cell death of activated lymphocytes in Omenn's syndrome. Eur J Immunol. 1997 Nov; 27(11):2765-73.
  238. O'Shea JJ, Notarangelo LD, Johnston JA, Candotti F. Advances in the understanding of cytokine signal transduction: the role of Jaks and STATs in immunoregulation and the pathogenesis of immunodeficiency. J Clin Immunol. 1997 Nov; 17(6):431-47.
  239. Badolato R, Ponzi AN, Millesimo M, Notarangelo LD, Musso T. Interleukin-15 (IL-15) induces IL-8 and monocyte chemotactic protein 1 production in human monocytes. Blood. 1997 Oct 1; 90(7):2804-9.
  240. Levy J, Espanol-Boren T, Thomas C, Fischer A, Tovo P, Bordigoni P, Resnick I, Fasth A, Baer M, Gomez L, Sanders EA, Tabone MD, Plantaz D, Etzioni A, Monafo V, Abinun M, Hammarstrom L, Abrahamsen T, Jones A, Finn A, Klemola T, DeVries E, Sanal O, Peitsch MC, Notarangelo LD. Clinical spectrum of X-linked hyper-IgM syndrome. J Pediatr. 1997 Jul; 131(1 Pt 1):47-54.
  241. Pignata C, Fiore M, Scotese I, Cosentini E, Sperandeo MP, Turco C, Petrella A, Notarangelo L, Venuta S. Combined immunodeficiency phenotype associated with inappropriate spontaneous and activation-induced apoptosis. Clin Exp Immunol. 1997 Jun; 108(3):484-9.
  242. Gauchat JF, Schlagenhauf E, Feng NP, Moser R, Yamage M, Jeannin P, Alouani S, Elson G, Notarangelo LD, Wells T, Eugster HP, Bonnefoy JY. A novel 4-kb interleukin-13 receptor alpha mRNA expressed in human B, T, and endothelial cells encoding an alternate type-II interleukin-4/interleukin-13 receptor. Eur J Immunol. 1997 Apr; 27(4):971-8.
  243. Brugnoni D, Airò P, Marino R, Notarangelo LD, van Lier RA, Cattaneo R. CD70 expression on T-cell subpopulations: study of normal individuals and patients with chronic immune activation. Immunol Lett. 1997 Feb; 55(2):99-104.
  244. Hayward AR, Levy J, Facchetti F, Notarangelo L, Ochs HD, Etzioni A, Bonnefoy JY, Cosyns M, Weinberg A. Cholangiopathy and tumors of the pancreas, liver, and biliary tree in boys with X-linked immunodeficiency with hyper-IgM. J Immunol. 1997 Jan 15; 158(2):977-83.
  245. Wengler GS, Parolini O, Fiorini M, Mella P, Smith H, Ugazio AG, Notarangelo LD. A PCR-based non-radioactive X-chromosome inactivation assay for genetic counseling in X-linked primary immunodeficiencies. Life Sci. 1997; 61(14):1405-11.
  246. Brugnoni D, Airò P, Lebovitz M, Malacarne F, Ugazio AG, Notarangelo LD, Plebani A, Cattaneo R. CD4+ cells from patients with Common Variable Immunodeficiency have a reduced ability of CD40 ligand membrane expression after in vitro stimulation. Pediatr Allergy Immunol. 1996 Nov; 7(4):176-9.
  247. Plebani A, Monafo V, Cattaneo R, Carella G, Brugnoni D, Facchetti F, Battocchio S, Meini A, Notarangelo LD, Duse M, Ugazio AG. Defective expression of HLA class I and CD1a molecules in boy with Marfan-like phenotype and deep skin ulcers. J Am Acad Dermatol. 1996 Nov; 35(5 Pt 2):814-8.
  248. Stewart DM, Treiber-Held S, Kurman CC, Facchetti F, Notarangelo LD, Nelson DL. Studies of the expression of the Wiskott-Aldrich syndrome protein. J Clin Invest. 1996 Jun 1; 97(11):2627-34.
  249. Chilosi M, Facchetti F, Notarangelo LD, Romagnani S, Del Prete G, Almerigogna F, De Carli M. The pathology of Omenn's syndrome. Am J Surg Pathol. 1996 Jun; 20(6):773-4.
  250. Duse M, Notarangelo LD, Tiberti S, Menegati E, Plebani A, Ugazio AG. Intravenous immune globulin in the treatment of intractable childhood epilepsy. Clin Exp Immunol. 1996 May; 104 Suppl 1:71-6.
  251. Chilosi M, Facchetti F, Notarangelo LD, Romagnani S, Del Prete G, Almerigogna F, De Carli M, Pizzolo G. CD30 cell expression and abnormal soluble CD30 serum accumulation in Omenn's syndrome: evidence for a T helper 2-mediated condition. Eur J Immunol. 1996 Feb; 26(2):329-34.
  252. Brugnoni D, Airò P, Graf D, Marconi M, Molinari C, Braga D, Malacarne F, Soresina A, Ugazio AG, Cattaneo R, Kroczek RA, Notarangelo LD. Ontogeny of CD40L [corrected] expression by activated peripheral blood lymphocytes in humans. Immunol Lett. 1996 Jan; 49(1-2):27-30.
  253. Plebani A, Airò P, Brugnoni D, Lebowitz M, Cattaneo R, Monafo V, Meini A, Notarangelo LD, Duse M, Ugazio AG. Expansion of large granular lymphocyte subsets in Wiskott-Aldrich syndrome. Haematologica. 1995 Nov-Dec; 80(6):521-5.
  254. Brugnoni D, Soresina A, Airo P, Ugazio AG, Notarangelo LD, Cattaneo R, Duse M. Effect of HIV vertical transmission on the ontogeny of T cell antigens involved in the regulation of humoral immune response. Clin Exp Immunol. 1995 Nov; 102(2):238-42.
  255. Vihinen M, Cooper MD, de Saint Basile G, Fischer A, Good RA, Hendriks RW, Kinnon C, Kwan SP, Litman GW, Notarangelo LD, et al. BTKbase: a database of XLA-causing mutations. International Study Group. Immunol Today. 1995 Oct; 16(10):460-5.
  256. Wengler GS, Notarangelo LD, Giliani S, Pirastru MG, Ugazio AG, Parolini O. Mutation analysis in Wiskott Aldrich syndrome on chorionic villus DNA. Lancet. 1995 Sep 2; 346(8975):641-2.
  257. Stewart DM, Notarangelo LD, Kurman CC, Staudt LM, Nelson DL. Molecular genetic analysis of X-linked hypogammaglobulinemia and isolated growth hormone deficiency. J Immunol. 1995 Sep 1; 155(5):2770-4.
  258. Toraldo R, D'Avanzo M, Tolone C, Canino G, Iafusco F, Notarangelo LD, Ugazio A, Cirillo C. Effect of interferon-alpha therapy in a patient with common variable immunodeficiency and chronic Epstein-Barr virus infection. Pediatr Hematol Oncol. 1995 Sep-Oct; 12(5):489-93.
  259. Sottini A, Quiròs-Roldan E, Notarangelo LD, Malagoli A, Primi D, Imberti L. Engrafted maternal T cells in a severe combined immunodeficiency patient express T-cell receptor variable beta segments characterized by a restricted V-D-J junctional diversity. Blood. 1995 Apr 15; 85(8):2105-13.
  260. Buzi F, Bezante T, Brunori A, Notarangelo LD, Ugazio AG. Pseudohypoaldosteronism: report of a case presenting as failure to thrive. J Pediatr Endocrinol Metab. 1995 Jan-Mar; 8(1):61-5.
  261. Vihinen M, Vetrie D, Maniar HS, Ochs HD, Zhu Q, Vorechovský I, Webster AD, Notarangelo LD, Nilsson L, Sowadski JM, et al. Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease. Proc Natl Acad Sci U S A. 1994 Dec 20; 91(26):12803-7.
  262. Vorechovský I, Vetrie D, Holland J, Bentley DR, Thomas K, Zhou JN, Notarangelo LD, Plebani A, Fontán G, Ochs HD, et al. Isolation of cosmid and cDNA clones in the region surrounding the BTK gene at Xq21.3-q22. Genomics. 1994 Jun; 21(3):517-24.
  263. Duse M, Airò P, Prati E, Soresina A, Notarangelo LD, Cattaneo R, Ugazio AG. Naive and memory T-cells in HIV-infected children. Eur J Pediatr. 1994 Apr; 153(4):301.
  264. Buzi F, Notarangelo LD, Plebani A, Duse M, Parolini O, Monteleone M, Ugazio AG. X-linked agammaglobulinemia, growth hormone deficiency and delay of growth and puberty. Acta Paediatr. 1994 Jan; 83(1):99-102.
  265. Burgio GR, Ugazio AG, Notarangelo LD, Duse M. The lesson of agammaglobulinemia 40 years after Bruton's discovery. Ann Allergy. 1993 Oct; 71(4):408-15.
  266. Guarnaccia S, Kurman CC, Notarangelo LD, La Grutta S, Candotti F, Ugazio AG, Nelson DL, Bellanti JA. Serum soluble interleukin-2 receptor (IL-2R) in children with allergic disorders. Ann Allergy. 1993 Sep; 71(3):259-62.
  267. Notarangelo LD, Candotti F, Parolini O, Mantuano E, Giliani S, Lanfranchi A, Albertini A. Application of molecular analysis to genetic counseling in the Wiskott-Aldrich syndrome (WAS). DNA Cell Biol. 1993 Sep; 12(7):645-9.
  268. Vorechovsky I, Zhou JN, Hammarström L, Smith CI, Thomas JD, Paul WE, Notarangelo LD, Bernatowska-Matuszkiewicz E. Absence of xid mutation in X-linked agammaglobulinaemia. Lancet. 1993 Aug 28; 342(8870):552.
  269. Bordignon C, Mavilio F, Ferrari G, Servida P, Ugazio AG, Notarangelo LD, Gilboa E, Rossini S, O'Reilly RJ, Smith CA, et al. Transfer of the ADA gene into bone marrow cells and peripheral blood lymphocytes for the treatment of patients affected by ADA-deficient SCID. Hum Gene Ther. 1993 Aug; 4(4):513-20.
  270. Notarangelo LD, Duse M, Tiberti S, Guarneri B, Brunori A, Negrini A, Ugazio AG. Intravenous immunoglobulin in two children with Guillain-Barré syndrome. Eur J Pediatr. 1993 Apr; 152(4):372-4.
  271. Padayachee M, Levinsky RJ, Kinnon C, Finn A, McKeown C, Feighery C, Notarangelo LD, Hendriks RW, Read AP, Malcolm S. Mapping of the X linked form of hyper IgM syndrome (HIGM1) J Med Genet. 1993 Mar; 30(3):202-5.
  272. Korthäuer U, Graf D, Mages HW, Brière F, Padayachee M, Malcolm S, Ugazio AG, Notarangelo LD, Levinsky RJ, Kroczek RA. Defective expression of T-cell CD40 ligand causes X-linked immunodeficiency with hyper-IgM. Nature. 1993 Feb 11; 361(6412):539-41.
  273. Notarangelo LD, Mantuano E, Bione S, Gimbo E, Giliani S, Caraffini A, Purtilo D, Farr C, Ugazio AG, Toniolo D. Molecular analysis of X-linked immunodeficiency with hyper-IgM and X-linked lymphoproliferative syndrome. Immunodeficiency. 1993; 4(1-4):225-9.
  274. Notarangelo LD, Stoppoloni G, Toraldo R, Mazzolari E, Coletta A, Airò P, Bordignon C, Ugazio AG. Insulin-dependent diabetes mellitus and severe atopic dermatitis in a child with adenosine deaminase deficiency. Eur J Pediatr. 1992 Nov; 151(11):811-4.
  275. Notarangelo LD, Parolini O, Baiguini G, Buzi F, Paterlini C, Perini A, Rimoldi M, Tiberti S, Uziel G, Notarangelo L, et al. Carrier detection in X-linked adrenoleukodystrophy by determination of very long chain fatty acid levels and by linkage analysis. Eur J Pediatr. 1992 Oct; 151(10):761-3.
  276. de Saint Basile G, Notarangelo LD, Bonaiti-Pellié C, Doussau M, Prolini O, Craig IW, Ugazio A, Griscelli C, Fischer A. Wiskott-Aldrich syndrome carrier detection with the hypervariable marker M27 beta. Hum Genet. 1992 May; 89(2):223-8.
  277. Notarangelo LD, Duse M, Ugazio AG. Immunodeficiency with hyper-IgM (HIM). Immunodefic Rev. 1992; 3(2):101-21.
  278. Notarangelo LD, Parolini O, Porta F, Locatelli F, Lanfranchi A, Marconi M, Nespoli L, Albertini A, Craig IW, Ugazio AG. Analysis of X-chromosome inactivation and presumptive expression of the Wiskott-Aldrich syndrome (WAS) gene in hematopoietic cell lineages of a thrombocytopenic carrier female of WAS. Hum Genet. 1991 Dec; 88(2):237-41.
  279. Notarangelo LD, Parolini O, Albertini A, Duse M, Mazzolari E, Plebani A, Camerino G, Ugazio AG. Analysis of X-chromosome inactivation in X-linked immunodeficiency with hyper-IgM (HIGM1): evidence for involvement of different hematopoietic cell lineages. Hum Genet. 1991 Dec; 88(2):130-4.
  280. Burgio GR, Notarangelo LD, Duse M, Ugazio AG. Primary immunodeficiencies: milestones in the history of pediatric immunology. Pediatr Hematol Oncol. 1991 Jul-Sep; 8(3):203-14.
  281. Notarangelo LD, Parolini O, Lusardi M, Mazzolari E, Ugazio AG. [Primary immunodeficiency 1991: new uses and prospects of genetic counseling]. Pediatr Med Chir. 1991 Mar-Apr; 13(2):129-33.
  282. Notarangelo LD, Parolini O, Faustini R, Porteri V, Albertini A, Ugazio AG. Presentation of Wiskott Aldrich syndrome as isolated thrombocytopenia. Blood. 1991 Mar 1; 77(5):1125-6.
  283. Porta F, Notarangelo LD, Candotti F, Mazzolari E, Lanfranchi A, Ugazio AG. [Bone marrow transplantation in congenital defects of immunity]. Pediatr Med Chir. 1991 Jan-Feb; 13(1):27-30.
  284. Notarangelo LD, Parolini O, Porta F, Arrighini A, Basagni G, Candotti F, Cavagna A, Cossandi G, Crescini C, Faustini R, et al. Use of the highly polymorphic DNA marker CRI-S232 for monitoring of engraftment and chimerism following bone marrow transplantation. Bone Marrow Transplant. 1991; 7 Suppl 3:136-8.
  285. Ugazio AG, Maccario R, Notarangelo LD, Burgio GR. Immunology of Down syndrome: a review. Am J Med Genet Suppl. 1990; 7:204-12.
  286. Nelson DL, Notarangelo LD. Overview of immunodeficiency diseases where bone marrow transplantation is feasible. Bone Marrow Transplant. 1989 Dec; 4 Suppl 4:132.
  287. Guioli S, Arveiler B, Bardoni B, Notarangelo LD, Panina P, Duse M, Ugazio A, Oberlé I, de Saint Basile G, Mandel JL, et al. Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemia. Hum Genet. 1989 Dec; 84(1):19-21.
  288. Ferrari G, De Amici M, Notarangelo LD, Monafo V, Burgio GR. [RAST positivity for food in atopic dermatitis]. Minerva Pediatr. 1989 Mar; 41(3):137-41.
  289. Burgio GR, Ugazio AG, Notarangelo LD. Immunology of the neonate. Curr Opin Immunol. 1989-1990; 2(5):770-7.
  290. Burgio GR, Scotta MS, Notarangelo LD, Viola S, De Amici M. [Pro-allergy role of infection. A component of the mode of reacting]. Pediatr Med Chir. 1988 Mar-Apr; 10(2):203-11.
  291. Notarangelo LD, Panina P, Imberti L, Malfa P, Ugazio AG, Albertini A. Neonatal T4+ lymphocytes: analysis of the expression of 4B4 and 2H4 antigens. Clin Immunol Immunopathol. 1988 Jan; 46(1):61-7.
  292. Martini A, Ravelli A, Notarangelo LD, Maccario R, Lanfranchi A, Rondena D, Ugazio AG, Burgio R. Enhanced interleukin 1 and depressed interleukin 2 production in juvenile arthritis. J Rheumatol. 1986 Jun; 13(3):598-603.
  293. Martini A, Plebani A, Ravelli A, Avanzini MA, Jefferis R, Zonta L, Notarangelo LD, Ugazio AG, Burgio R. IgG subclass serum levels in juvenile chronic arthritis. Ann Rheum Dis. 1986 May; 45(5):400-4.
  294. Geroldi D, Aricò M, Plebani A, Maccario R, Notarangelo LD, Duse M, Rey F, Barrè Sinoussi F, Chermann JC, Burgio GR. Western blot technique in the serological evaluation of three LAV/HTLV III-infected Italian families. Infection. 1986 Mar-Apr; 14(2):60-3.
  295. Maccario R, Notarangelo LD, Montagna D, Vitiello A, Porta FA, Lanfranchi A, Marseglia G, Ugazio AG. Lymphocyte subpopulations in the neonate: in vitro proliferation, IL-1 and IL-2 production by a subset of HNK-1-, OKT3-, OKT8+ lymphocytes displaying NK activity. Thymus. 1986; 8(4):225-34.
  296. Duse M, Monafo V, Notarangelo LD, Leo G. [Granulocyte disorders]. Pediatr Med Chir. 1985 Mar-Apr; 7(2):189-92.
  297. Martini A, Ravelli A, Notarangelo LD, Burgio VL, Plebani A. Henoch-Schönlein syndrome and selective IgA deficiency. Arch Dis Child. 1985 Feb; 60(2):160-2.
  298. Plebani A, Notarangelo LD, Duse M, Avanzini A, Massa M, Ugazio AG. Serum IgG levels and complement activity in hypogammaglobulinaemic patients under substitution therapy. Clin Exp Immunol. 1984 Oct; 58(1):193-8.
  299. Plebani A, Notarangelo LD, Monafo V, Nespoli L, Ugazio AG. A new immunoperoxidase assay for Lolium perenne-specific IgE in serum based on the biotin/avidin system (BAS). Clin Allergy. 1984 Jul; 14(4):373-8.
  300. Notarangelo LD, Chirico G, Chiara A, Colombo A, Rondini G, Plebani A, Martini A, Ugazio AG. Activity of classical and alternative pathways of complement in preterm and small for gestational age infants. Pediatr Res. 1984 Mar; 18(3):281-5.
  301. Martini A, Notarangelo LD, Barberis L, Galvanini G, Burgio FP, Lanzi G. Acquired vitamin D-resistant rickets caused by prolonged latency in appearance of bone tumor. Am J Dis Child. 1983 Dec; 137(12):1205-6.
  302. Martini A, Scotta MS, Notarangelo LD, Maggiore G, Guarnaccia S, De Giacomo C. Membranous glomerulopathy and chronic small-intestinal enteropathy associated with autoantibodies directed against renal tubular basement membrane and the cytoplasm of intestinal epithelial cells. Acta Paediatr Scand. 1983 Nov; 72(6):931-4.
  303. Notarangelo LD, Plebani A, Marconi M, Chiara A, Martini A, Ugazio AG. A simple hemolytic micromethod for the quantitative and kinetic evaluation of the alternative activating pathway of complement. Ric Clin Lab. 1983 Oct-Dec; 13(4):423-9.
  304. Martini A, Notarangelo LD, Barberis L, Plebani A. Pancreatitis in systemic lupus erythematosus. Arthritis Rheum. 1983 Sep; 26(9):1173.
  305. Plebani A, Mira E, Mevio E, Monafo V, Notarangelo LD, Avanzini A, Ugazio AG. IgM and IgD concentrations in the serum and secretions of children with selective IgA deficiency. Clin Exp Immunol. 1983 Sep; 53(3):689-96.
  306. Martini A, Notarangelo LD, Marseglia GL, Barberis L, Marconi M, Guarnaccia S, Ugazio AG. Polymorphonuclear function and respiratory syncytial virus infections in children. Infection. 1983 Jul-Aug; 11(4):232-3.
  307. Ugazio AG, Duse M, Plebani A, Notarangelo LD, Burgio GR. Subcutaneous infusion of gamma globulins in the management of agammaglobulinemic patients. Birth Defects Orig Artic Ser. 1983; 19(3):213-5.
  308. Bondioni MP, Duse M, Plebani A, Soresina A, Notarangelo LD, Berlucchi M, Grazioli L. Pulmonary and sinusal changes in 45 patients with primary immunodeficiencies: computed tomography evaluation. J Comput Assist Tomogr. 2007 Jul-Aug; 31(4):620-8.
  309. Bottino C, Falco M, Parolini S, Marcenaro E, Augugliaro R, Sivori S, Landi E, Biassoni R, Notarangelo LD, Moretta L, Moretta A. NTB-A [correction of GNTB-A], a novel SH2D1A-associated surface molecule contributing to the inability of natural killer cells to kill Epstein-Barr virus-infected B cells in X-linked lymphoproliferative disease. J Exp Med. 2001 Aug 6; 194(3):235-46.
  310. Frucht DM, Gadina M, Jagadeesh GJ, Aksentijevich I, Takada K, Bleesing JJ, Nelson J, Muul LM, Perham G, Morgan G, Gerritsen EJ, Schumacher RF, Mella P, Veys PA, Fleisher TA, Kaminski ER, Notarangelo LD, O'Shea JJ, Candotti F. Unexpected and variable phenotypes in a family with JAK3 deficiency. Genes Immun. 2001 Dec; 2(8):422-32.
  311. Pirovano S, Notarangelo LD, Valotti M, Ugazio AG, Albertini A, Imberti L. Mutations of the T-cell receptor constant region after in utero stem cell transplantation. Immunogenetics. 2004 Jun; 56(3):214-9.
  312. Bordignon C, Notarangelo LD, Nobili N, Ferrari G, Casorati G, Panina P, Mazzolari E, Maggioni D, Rossi C, Servida P, Ugazio AG, Mavilio F. Gene therapy in peripheral blood lymphocytes and bone marrow for ADA- immunodeficient patients. Science. 1995 Oct 20; 270(5235):470-5.
  313. Pesu M, Candotti F, Husa M, Hofmann SR, Notarangelo LD, O'Shea JJ. Jak3, severe combined immunodeficiency, and a new class of immunosuppressive drugs. Immunol Rev. 2005 Feb; 203:127-42.
  314. Recher M, Fried AJ, Massaad MJ, Kim HY, Rizzini M, Frugoni F, Walter JE, Mathew D, Eibel H, Hess C, Giliani S, Umetsu DT, Notarangelo LD, Geha RS. Intronic SH2D1A mutation with impaired SAP expression and agammaglobulinemia. Clin Immunol. 2013 Feb; 146(2):84-9.
  315. Ballow M, Notarangelo L, Grimbacher B, Cunningham-Rundles C, Stein M, Helbert M, Gathmann B, Kindle G, Knight AK, Ochs HD, Sullivan K, Franco JL. Immunodeficiencies. Clin Exp Immunol. 2009 Dec; 158 Suppl 1:14-22.
  316. Villa A, Sobacchi C, Notarangelo LD, Bozzi F, Abinun M, Abrahamsen TG, Arkwright PD, Baniyash M, Brooks EG, Conley ME, Cortes P, Duse M, Fasth A, Filipovich AM, Infante AJ, Jones A, Mazzolari E, Muller SM, Pasic S, Rechavi G, Sacco MG, Santagata S, Schroeder ML, Seger R, Strina D, Ugazio A, Väliaho J, Vihinen M, Vogler LB, Ochs H, Vezzoni P, Friedrich W, Schwarz K. V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations. Blood. 2001 Jan 1; 97(1):81-8.
  317. Moretta A, Bottino C, Parolini S, Moretta L, Biassoni R, Notarangelo LD. Cellular and molecular pathogenesis of X-linked lymphoproliferative disease. Curr Opin Allergy Clin Immunol. 2001 Dec; 1(6):513-7.
  318. Signorini S, Imberti L, Pirovano S, Villa A, Facchetti F, Ungari M, Bozzi F, Albertini A, Ugazio AG, Vezzoni P, Notarangelo LD. Intrathymic restriction and peripheral expansion of the T-cell repertoire in Omenn syndrome. Blood. 1999 Nov 15; 94(10):3468-78.
  319. Prete F, Catucci M, Labrada M, Gobessi S, Castiello MC, Bonomi E, Aiuti A, Vermi W, Cancrini C, Metin A, Hambleton S, Bredius R, Notarangelo LD, van der Burg M, Kalinke U, Villa A, Benvenuti F. Wiskott-Aldrich syndrome protein-mediated actin dynamics control type-I interferon production in plasmacytoid dendritic cells. J Exp Med. 2013 Feb 11; 210(2):355-74.
  320. Boisson B, Laplantine E, Prando C, Giliani S, Israelsson E, Xu Z, Abhyankar A, Israël L, Trevejo-Nunez G, Bogunovic D, Cepika AM, MacDuff D, Chrabieh M, Hubeau M, Bajolle F, Debré M, Mazzolari E, Vairo D, Agou F, Virgin HW, Bossuyt X, Rambaud C, Facchetti F, Bonnet D, Quartier P, Fournet JC, Pascual V, Chaussabel D, Notarangelo LD, Puel A, Israël A, Casanova JL, Picard C. Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency. Nat Immunol. 2012 Dec; 13(12):1178-86.
  321. Gomez CA, Ptaszek LM, Villa A, Bozzi F, Sobacchi C, Brooks EG, Notarangelo LD, Spanopoulou E, Pan ZQ, Vezzoni P, Cortes P, Santagata S. Mutations in conserved regions of the predicted RAG2 kelch repeats block initiation of V(D)J recombination and result in primary immunodeficiencies. Mol Cell Biol. 2000 Aug; 20(15):5653-64.
  322. Casanova JL, Holland SM, Notarangelo LD. Inborn errors of human JAKs and STATs. Immunity. 2012 Apr 20; 36(4):515-28.
  323. Facchetti F, Appiani C, Salvi L, Levy J, Notarangelo LD. Immunohistologic analysis of ineffective CD40-CD40 ligand interaction in lymphoid tissues from patients with X-linked immunodeficiency with hyper-IgM. Abortive germinal center cell reaction and severe depletion of follicular dendritic cells. J Immunol. 1995 Jun 15; 154(12):6624-33.
  324. Pessach IM, Notarangelo LD. Gene therapy for primary immunodeficiencies: looking ahead, toward gene correction. J Allergy Clin Immunol. 2011 Jun; 127(6):1344-50.
  325. Schumacher RF, Notarangelo LD. Severe combined immunodeficiencies of the common gamma-chain/JAK3 signaling pathway. Isr Med Assoc J. 2002 Feb; 4(2):131-5.
  326. Cattaneo F, Recher M, Masneri S, Baxi SN, Fiorini C, Antonelli F, Wysocki CA, Calderon JG, Eibel H, Smith AR, Bonilla FA, Tsitsikov E, Giliani S, Notarangelo LD, Pai SY. Hypomorphic Janus kinase 3 mutations result in a spectrum of immune defects, including partial maternal T-cell engraftment. J Allergy Clin Immunol. 2013 Apr; 131(4):1136-45.
  327. Brugnoni D, Notarangelo LD, Sottini A, Airò P, Pennacchio M, Mazzolari E, Signorini S, Candotti F, Villa A, Mella P, Vezzoni P, Cattaneo R, Ugazio AG, Imberti L. Development of autologous, oligoclonal, poorly functioning T lymphocytes in a patient with autosomal recessive severe combined immunodeficiency caused by defects of the Jak3 tyrosine kinase. Blood. 1998 Feb 1; 91(3):949-55.
  328. Marrella V, Poliani PL, Casati A, Rucci F, Frascoli L, Gougeon ML, Lemercier B, Bosticardo M, Ravanini M, Battaglia M, Roncarolo MG, Cavazzana-Calvo M, Facchetti F, Notarangelo LD, Vezzoni P, Grassi F, Villa A. A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome. J Clin Invest. 2007 May; 117(5):1260-9.
  329. Schumacher RF, Mella P, Badolato R, Fiorini M, Savoldi G, Giliani S, Villa A, Candotti F, Tampalini A, O'Shea JJ, Notarangelo LD. Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism. Hum Genet. 2000 Jan; 106(1):73-9.
  330. Massaad MJ, Ramesh N, Le Bras S, Giliani S, Notarangelo LD, Al-Herz W, Notarangelo LD, Geha RS. A peptide derived from the Wiskott-Aldrich syndrome (WAS) protein-interacting protein (WIP) restores WAS protein level and actin cytoskeleton reorganization in lymphocytes from patients with WAS mutations that disrupt WIP binding. J Allergy Clin Immunol. 2011 Apr; 127(4):998-1005.e1-2.
  331. Mazzolari E, Forino C, Fontana M, D'Ippolito C, Lanfranchi A, Gambineri E, Ochs H, Badolato R, Notarangelo LD. A new case of IPEX receiving bone marrow transplantation. Bone Marrow Transplant. 2005 May; 35(10):1033-4.
  332. Villa A, Santagata S, Bozzi F, Imberti L, Notarangelo LD. Omenn syndrome: a disorder of Rag1 and Rag2 genes. J Clin Immunol. 1999 Mar; 19(2):87-97.
  333. Mella P, Schumacher RF, Cranston T, de Saint Basile G, Savoldi G, Notarangelo LD. Eleven novel JAK3 mutations in patients with severe combined immunodeficiency-including the first patients with mutations in the kinase domain. Hum Mutat. 2001 Oct; 18(4):355-6.
  334. Majorana A, Notarangelo LD, Savoldi E, Gastaldi G, Lozada-Nur F. Leukocyte adhesion deficiency in a child with severe oral involvement. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 1999 Jun; 87(6):691-4.
  335. Bloch DB, Nobre R, Steinbicker AU, Al-Herz W, Notarangelo LD, Recher M. Decreased IL-10 production by EBV-transformed B cells from patients with VODI: implications for the pathogenesis of Crohn disease. J Allergy Clin Immunol. 2012 Jun; 129(6):1678-80.
  336. Allavena P, Badolato R, Facchetti F, Vermi W, Paganin C, Luini W, Giliani S, Mazza C, Bolzern U, Chiesa I, Notarangelo L, Mantovani A, Sozzani S. Monocytes from Wiskott-Aldrich patients differentiate in functional mature dendritic cells with a defect in CD83 expression. Eur J Immunol. 2001 Dec; 31(12):3413-21.
  337. Notarangelo LD, Hayward AR. X-linked immunodeficiency with hyper-IgM (XHIM). Clin Exp Immunol. 2000 Jun; 120(3):399-405.
  338. Guerrini MM, Sobacchi C, Cassani B, Abinun M, Kilic SS, Pangrazio A, Moratto D, Mazzolari E, Clayton-Smith J, Orchard P, Coxon FP, Helfrich MH, Crockett JC, Mellis D, Vellodi A, Tezcan I, Notarangelo LD, Rogers MJ, Vezzoni P, Villa A, Frattini A. Human osteoclast-poor osteopetrosis with hypogammaglobulinemia due to TNFRSF11A (RANK) mutations. Am J Hum Genet. 2008 Jul; 83(1):64-76.
  339. Gaspar HB, Aiuti A, Porta F, Candotti F, Hershfield MS, Notarangelo LD. How I treat ADA deficiency. Blood. 2009 Oct 22; 114(17):3524-32.
  340. Villa A, Notarangelo L, Macchi P, Mantuano E, Cavagni G, Brugnoni D, Strina D, Patrosso MC, Ramenghi U, Sacco MG, et al. X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene. Nat Genet. 1995 Apr; 9(4):414-7.
  341. Pessach IM, Ordovas-Montanes J, Zhang SY, Casanova JL, Giliani S, Gennery AR, Al-Herz W, Manos PD, Schlaeger TM, Park IH, Rucci F, Agarwal S, Mostoslavsky G, Daley GQ, Notarangelo LD. Induced pluripotent stem cells: a novel frontier in the study of human primary immunodeficiencies. J Allergy Clin Immunol. 2011 Jun; 127(6):1400-7.e4.
  342. Clementi R, zur Stadt U, Savoldi G, Varoitto S, Conter V, De Fusco C, Notarangelo LD, Schneider M, Klersy C, Janka G, Danesino C, Aricò M. Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis. J Med Genet. 2001 Sep; 38(9):643-6.
  343. Rucci F, Notarangelo LD, Fazeli A, Patrizi L, Hickernell T, Paganini T, Coakley KM, Detre C, Keszei M, Walter JE, Feldman L, Cheng HL, Poliani PL, Wang JH, Balter BB, Recher M, Andersson EM, Zha S, Giliani S, Terhorst C, Alt FW, Yan CT. Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome. Proc Natl Acad Sci U S A. 2010 Feb 16; 107(7):3024-9.
  344. Chen M, Cheng A, Candotti F, Zhou YJ, Hymel A, Fasth A, Notarangelo LD, O'Shea JJ. Complex effects of naturally occurring mutations in the JAK3 pseudokinase domain: evidence for interactions between the kinase and pseudokinase domains. Mol Cell Biol. 2000 Feb; 20(3):947-56.
  345. Villa A, Notarangelo LD, Roifman CM. Omenn syndrome: inflammation in leaky severe combined immunodeficiency. J Allergy Clin Immunol. 2008 Dec; 122(6):1082-6.
  346. Borsani G, Piovani G, Zoppi N, Bertini V, Bini R, Notarangelo L, Barlati S. Cytogenetic and molecular characterization of a de-novo t(2p;7p) translocation involving TNS3 and EXOC6B genes in a boy with a complex syndromic phenotype. Eur J Med Genet. 2008 Jul-Aug; 51(4):292-302.
  347. Frattini A, Orchard PJ, Sobacchi C, Giliani S, Abinun M, Mattsson JP, Keeling DJ, Andersson AK, Wallbrandt P, Zecca L, Notarangelo LD, Vezzoni P, Villa A. Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis. Nat Genet. 2000 Jul; 25(3):343-6.
  348. Filipe-Santos O, Bustamante J, Haverkamp MH, Vinolo E, Ku CL, Puel A, Frucht DM, Christel K, von Bernuth H, Jouanguy E, Feinberg J, Durandy A, Senechal B, Chapgier A, Vogt G, de Beaucoudrey L, Fieschi C, Picard C, Garfa M, Chemli J, Bejaoui M, Tsolia MN, Kutukculer N, Plebani A, Notarangelo L, Bodemer C, Geissmann F, Israël A, Véron M, Knackstedt M, Barbouche R, Abel L, Magdorf K, Gendrel D, Agou F, Holland SM, Casanova JL. X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production. J Exp Med. 2006 Jul 10; 203(7):1745-59.
  349. Notarangelo LD, Fischer A, Geha RS, Casanova JL, Chapel H, Conley ME, Cunningham-Rundles C, Etzioni A, Hammartröm L, Nonoyama S, Ochs HD, Puck J, Roifman C, Seger R, Wedgwood J. Primary immunodeficiencies: 2009 update. J Allergy Clin Immunol. 2009 Dec; 124(6):1161-78.
  350. Notarangelo LD, Villa A, Schwarz K. RAG and RAG defects. Curr Opin Immunol. 1999 Aug; 11(4):435-42.
  351. Recher M, Burns SO, de la Fuente MA, Volpi S, Dahlberg C, Walter JE, Moffitt K, Mathew D, Honke N, Lang PA, Patrizi L, Falet H, Keszei M, Mizui M, Csizmadia E, Candotti F, Nadeau K, Bouma G, Delmonte OM, Frugoni F, Fomin AB, Buchbinder D, Lundequist EM, Massaad MJ, Tsokos GC, Hartwig J, Manis J, Terhorst C, Geha RS, Snapper S, Lang KS, Malley R, Westerberg L, Thrasher AJ, Notarangelo LD. B cell-intrinsic deficiency of the Wiskott-Aldrich syndrome protein (WASp) causes severe abnormalities of the peripheral B-cell compartment in mice. Blood. 2012 Mar 22; 119(12):2819-28.
  352. Vihinen M, Arredondo-Vega FX, Casanova JL, Etzioni A, Giliani S, Hammarström L, Hershfield MS, Heyworth PG, Hsu AP, Lähdesmäki A, Lappalainen I, Notarangelo LD, Puck JM, Reith W, Roos D, Schumacher RF, Schwarz K, Vezzoni P, Villa A, Väliaho J, Smith CI. Primary immunodeficiency mutation databases. Adv Genet. 2001; 43:103-88.
  353. Aiuti A, Vai S, Mortellaro A, Casorati G, Ficara F, Andolfi G, Ferrari G, Tabucchi A, Carlucci F, Ochs HD, Notarangelo LD, Roncarolo MG, Bordignon C. Immune reconstitution in ADA-SCID after PBL gene therapy and discontinuation of enzyme replacement. Nat Med. 2002 May; 8(5):423-5.
  354. Villa A, Santagata S, Bozzi F, Giliani S, Frattini A, Imberti L, Gatta LB, Ochs HD, Schwarz K, Notarangelo LD, Vezzoni P, Spanopoulou E. Partial V(D)J recombination activity leads to Omenn syndrome. Cell. 1998 May 29; 93(5):885-96.
  355. Oakes SA, Candotti F, Johnston JA, Chen YQ, Ryan JJ, Taylor N, Liu X, Hennighausen L, Notarangelo LD, Paul WE, Blaese RM, O'Shea JJ. Signaling via IL-2 and IL-4 in JAK3-deficient severe combined immunodeficiency lymphocytes: JAK3-dependent and independent pathways. Immunity. 1996 Dec; 5(6):605-15.
  356. Lewis J, Eiben LJ, Nelson DL, Cohen JI, Nichols KE, Ochs HD, Notarangelo LD, Duckett CS. Distinct interactions of the X-linked lymphoproliferative syndrome gene product SAP with cytoplasmic domains of members of the CD2 receptor family. Clin Immunol. 2001 Jul; 100(1):15-23.
  357. Villa A, Strina D, Macchi P, Patrosso MC, Vezzoni P, Tovo PA, Giliani S, Ugazio AG, Notarangelo LD. C to T mutation causing premature termination of CD40 ligand at amino acid 221 in a patient affected by hyper IgM syndrome. Hum Mutat. 1994; 3(1):73-5.
  358. Villa A, Sironi M, Macchi P, Matteucci C, Notarangelo LD, Vezzoni P, Mantovani A. Monocyte function in a severe combined immunodeficient patient with a donor splice site mutation in the Jak3 gene. Blood. 1996 Aug 1; 88(3):817-23.
  359. Cavadini P, Vermi W, Facchetti F, Fontana S, Nagafuchi S, Mazzolari E, Sediva A, Marrella V, Villa A, Fischer A, Notarangelo LD, Badolato R. AIRE deficiency in thymus of 2 patients with Omenn syndrome. J Clin Invest. 2005 Mar; 115(3):728-32.
  360. Marangoni F, Trifari S, Scaramuzza S, Panaroni C, Martino S, Notarangelo LD, Baz Z, Metin A, Cattaneo F, Villa A, Aiuti A, Battaglia M, Roncarolo MG, Dupré L. WASP regulates suppressor activity of human and murine CD4(+)CD25(+)FOXP3(+) natural regulatory T cells. J Exp Med. 2007 Feb 19; 204(2):369-80.
  361. Smith CI, Notarangelo LD. Molecular basis for X-linked immunodeficiencies. Adv Genet. 1997; 35:57-115.
  362. Weinacht KG, Brauer PM, Felgentreff K, Devine A, Gennery AR, Giliani S, Al-Herz W, Schambach A, Zúñiga-Pflücker JC, Notarangelo LD. The role of induced pluripotent stem cells in research and therapy of primary immunodeficiencies. Curr Opin Immunol. 2012 Oct; 24(5):617-24.
  363. Mallone R, Ferrua S, Morra M, Zocchi E, Mehta K, Notarangelo LD, Malavasi F. Characterization of a CD38-like 78-kilodalton soluble protein released from B cell lines derived from patients with X-linked agammaglobulinemia. J Clin Invest. 1998 Jun 15; 101(12):2821-30.
  364. Mazza C, Buzi F, Ortolani F, Vitali A, Notarangelo LD, Weber G, Bacchetta R, Soresina A, Lougaris V, Greggio NA, Taddio A, Pasic S, de Vroede M, Pac M, Kilic SS, Ozden S, Rusconi R, Martino S, Capalbo D, Salerno M, Pignata C, Radetti G, Maggiore G, Plebani A, Notarangelo LD, Badolato R. Clinical heterogeneity and diagnostic delay of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome. Clin Immunol. 2011 Apr; 139(1):6-11.
  365. Maestrini E, Rivella S, Tribioli C, Rocchi M, Camerino G, Santachiara-Benerecetti S, Parolini O, Notarangelo LD, Toniolo D. Identification of novel RFLPs in the vicinity of CpG islands in Xq28: application to the analysis of the pattern of X chromosome inactivation. Am J Hum Genet. 1992 Jan; 50(1):156-63.
  366. Notarangelo LD, Peitsch MC, Abrahamsen TG, Bachelot C, Bordigoni P, Cant AJ, Chapel H, Clementi M, Deacock S, de Saint Basile G, Duse M, Espanol T, Etzioni A, Fasth A, Fischer A, Giliani S, Gomez L, Hammarstorm L, Jones A, Kanariou M, Kinnon C, Klemola T, Kroczek RA, Levy J, Matamoros N, Monafo V, Paolucci P, Reznick I, Sanal O, Smith CI, Thompson RA, Tovo P, Villa A, Vihinen M, Vossen J, Zegers BJ. CD40lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome. Immunol Today. 1996 Nov; 17(11):511-6.
  367. Sheehan WJ, Delmonte OM, Miller DT, Roberts AE, Bonilla FA, Morra M, Giliani S, Pai SY, Notarangelo LD, Oettgen HC. Novel presentation of Omenn syndrome in association with aniridia. J Allergy Clin Immunol. 2009 Apr; 123(4):966-9.
  368. De Ravin SS, Cowen EW, Zarember KA, Whiting-Theobald NL, Kuhns DB, Sandler NG, Douek DC, Pittaluga S, Poliani PL, Lee YN, Notarangelo LD, Wang L, Alt FW, Kang EM, Milner JD, Niemela JE, Fontana-Penn M, Sinal SH, Malech HL. Hypomorphic Rag mutations can cause destructive midline granulomatous disease. Blood. 2010 Aug 26; 116(8):1263-71.
  369. Aiuti A, Cattaneo F, Galimberti S, Benninghoff U, Cassani B, Callegaro L, Scaramuzza S, Andolfi G, Mirolo M, Brigida I, Tabucchi A, Carlucci F, Eibl M, Aker M, Slavin S, Al-Mousa H, Al Ghonaium A, Ferster A, Duppenthaler A, Notarangelo L, Wintergerst U, Buckley RH, Bregni M, Marktel S, Valsecchi MG, Rossi P, Ciceri F, Miniero R, Bordignon C, Roncarolo MG. Gene therapy for immunodeficiency due to adenosine deaminase deficiency. N Engl J Med. 2009 Jan 29; 360(5):447-58.
  370. Candotti F, Oakes SA, Johnston JA, Giliani S, Schumacher RF, Mella P, Fiorini M, Ugazio AG, Badolato R, Notarangelo LD, Bozzi F, Macchi P, Strina D, Vezzoni P, Blaese RM, O'Shea JJ, Villa A. Structural and functional basis for JAK3-deficient severe combined immunodeficiency. Blood. 1997 Nov 15; 90(10):3996-4003.
  371. Bottino C, Parolini S, Biassoni R, Falco M, Notarangelo L, Moretta A. X-linked lymphoproliferative disease: the dark side of 2b4 function. Adv Exp Med Biol. 2001; 495:63-7.
  372. Mella P, Imberti L, Brugnoni D, Pirovano S, Candotti F, Mazzolari E, Bettinardi A, Fiorini M, De Mattia D, Martire B, Plebani A, Notarangelo LD, Giliani S. Development of autologous T lymphocytes in two males with X-linked severe combined immune deficiency: molecular and cellular characterization. Clin Immunol. 2000 Apr; 95(1 Pt 1):39-50.
  373. Bozzi F, Lefranc G, Villa A, Badolato R, Schumacher RF, Khalil G, Loiselet J, Bresciani S, O'Shea JJ, Vezzoni P, Notarangelo LD, Candotti F. Molecular and biochemical characterization of JAK3 deficiency in a patient with severe combined immunodeficiency over 20 years after bone marrow transplantation: implications for treatment. Br J Haematol. 1998 Sep; 102(5):1363-6.
  374. Notarangelo LD, Badolato R. Leukocyte trafficking in primary immunodeficiencies. J Leukoc Biol. 2009 Mar; 85(3):335-43.
  375. Trifari S, Sitia G, Aiuti A, Scaramuzza S, Marangoni F, Guidotti LG, Martino S, Saracco P, Notarangelo LD, Roncarolo MG, Dupré L. Defective Th1 cytokine gene transcription in CD4+ and CD8+ T cells from Wiskott-Aldrich syndrome patients. J Immunol. 2006 Nov 15; 177(10):7451-61.
  376. Vihinen M, Villa A, Mella P, Schumacher RF, Savoldi G, O'Shea JJ, Candotti F, Notarangelo LD. Molecular modeling of the Jak3 kinase domains and structural basis for severe combined immunodeficiency. Clin Immunol. 2000 Aug; 96(2):108-18.
  377. Kroczek RA, Graf D, Brugnoni D, Giliani S, Korthüer U, Ugazio A, Senger G, Mages HW, Villa A, Notarangelo LD. Defective expression of CD40 ligand on T cells causes "X-linked immunodeficiency with hyper-IgM (HIGM1)". Immunol Rev. 1994 Apr; 138:39-59.
  378. Borzutzky A, Crompton B, Bergmann AK, Giliani S, Baxi S, Martin M, Neufeld EJ, Notarangelo LD. Reversible severe combined immunodeficiency phenotype secondary to a mutation of the proton-coupled folate transporter. Clin Immunol. 2009 Dec; 133(3):287-94.
  379. Hassan A, Booth C, Brightwell A, Allwood Z, Veys P, Rao K, Hönig M, Friedrich W, Gennery A, Slatter M, Bredius R, Finocchi A, Cancrini C, Aiuti A, Porta F, Lanfranchi A, Ridella M, Steward C, Filipovich A, Marsh R, Bordon V, Al-Muhsen S, Al-Mousa H, Alsum Z, Al-Dhekri H, Al Ghonaium A, Speckmann C, Fischer A, Mahlaoui N, Nichols KE, Grunebaum E, Al Zahrani D, Roifman CM, Boelens J, Davies EG, Cavazzana-Calvo M, Notarangelo L, Gaspar HB. Outcome of hematopoietic stem cell transplantation for adenosine deaminase-deficient severe combined immunodeficiency. Blood. 2012 Oct 25; 120(17):3615-24; quiz 3626.
  380. Schumacher RF, Mella P, Lalatta F, Fiorini M, Giliani S, Villa A, Candotti F, Notarangelo LD. Prenatal diagnosis of JAK3 deficient SCID. Prenat Diagn. 1999 Jul; 19(7):653-6.
  381. Stoppoloni G, Iafusco D, Amodeo BM, De Felice E, Toraldo R, Betterle C, Notarangelo LD, Tosi G, Accolla RS, Prisco F. A girl with diabetes and severe combined immunodeficiency from adenosine deaminase deficiency. J Pediatr Endocrinol Metab. 1997 Jul-Aug; 10(4):425-8.
  382. Bettinardi A, Brugnoni D, Quiròs-Roldan E, Malagoli A, La Grutta S, Correra A, Notarangelo LD. Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis. Blood. 1997 Feb 1; 89(3):902-9.
  383. Badolato R, Sozzani S, Malacarne F, Bresciani S, Fiorini M, Borsatti A, Albertini A, Mantovani A, Ugazio AG, Notarangelo LD. Monocytes from Wiskott-Aldrich patients display reduced chemotaxis and lack of cell polarization in response to monocyte chemoattractant protein-1 and formyl-methionyl-leucyl-phenylalanine. J Immunol. 1998 Jul 15; 161(2):1026-33.
  384. Beluffi G, Fiori P, Schifino A, Notarangelo LD, Giardini D, Bozzola M, Montanari C, Martini A. Metaphyseal dysplasia, type Schmid. Prog Clin Biol Res. 1982; 104:103-10.
  385. Notarangelo LD, Giliani S, Mella P, Schumacher RF, Mazza C, Savoldi G, Rodriguez-Pérez C, Badolato R, Mazzolari E, Porta F, Candotti F, Ugazio AG. Combined immunodeficiencies due to defects in signal transduction: defects of the gammac-JAK3 signaling pathway as a model. Immunobiology. 2000 Aug; 202(2):106-19.
  386. Soresina A, Lougaris V, Giliani S, Cardinale F, Armenio L, Cattalini M, Notarangelo LD, Plebani A. Mutations of the X-linked lymphoproliferative disease gene SH2D1A mimicking common variable immunodeficiency. Eur J Pediatr. 2002 Dec; 161(12):656-9.
  387. Giliani S, Bonfim C, de Saint Basile G, Lanzi G, Brousse N, Koliski A, Malvezzi M, Fischer A, Notarangelo LD, Le Deist F. Omenn syndrome in an infant with IL7RA gene mutation. J Pediatr. 2006 Feb; 148(2):272-4.
  388. Santoro A, Cannella S, Trizzino A, Bruno G, De Fusco C, Notarangelo LD, Pende D, Griffiths GM, Aricò M. Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3. Haematologica. 2008 Jul; 93(7):1086-90.
  389. Villa A, Bozzi F, Sobacchi C, Strina D, Fasth A, Pasic S, Notarangelo LD, Vezzoni P. Prenatal diagnosis of RAG-deficient Omenn syndrome. Prenat Diagn. 2000 Jan; 20(1):56-9.
  390. Moratto D, Giliani S, Bonfim C, Mazzolari E, Fischer A, Ochs HD, Cant AJ, Thrasher AJ, Cowan MJ, Albert MH, Small T, Pai SY, Haddad E, Lisa A, Hambleton S, Slatter M, Cavazzana-Calvo M, Mahlaoui N, Picard C, Torgerson TR, Burroughs L, Koliski A, Neto JZ, Porta F, Qasim W, Veys P, Kavanau K, Hönig M, Schulz A, Friedrich W, Notarangelo LD. Long-term outcome and lineage-specific chimerism in 194 patients with Wiskott-Aldrich syndrome treated by hematopoietic cell transplantation in the period 1980-2009: an international collaborative study. Blood. 2011 Aug 11; 118(6):1675-84.
  391. Lappalainen I, Giliani S, Franceschini R, Bonnefoy JY, Duckett C, Notarangelo LD, Vihinen M. Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease. Biochem Biophys Res Commun. 2000 Mar 5; 269(1):124-30.
  392. Candotti F, Oakes SA, Johnston JA, Notarangelo LD, O'Shea JJ, Blaese RM. In vitro correction of JAK3-deficient severe combined immunodeficiency by retroviral-mediated gene transduction. J Exp Med. 1996 Jun 1; 183(6):2687-92.
  393. Macchi P, Notarangelo L, Giliani S, Strina D, Repetto M, Sacco MG, Vezzoni P, Villa A. The genomic organization of the human transcription factor 3 (TFE3) gene. Genomics. 1995 Aug 10; 28(3):491-4.
  394. Recher M, Berglund LJ, Avery DT, Cowan MJ, Gennery AR, Smart J, Peake J, Wong M, Pai SY, Baxi S, Walter JE, Palendira U, Tangye GA, Rice M, Brothers S, Al-Herz W, Oettgen H, Eibel H, Puck JM, Cattaneo F, Ziegler JB, Giliani S, Tangye SG, Notarangelo LD. IL-21 is the primary common ? chain-binding cytokine required for human B-cell differentiation in vivo. Blood. 2011 Dec 22; 118(26):6824-35.
  395. Mazzolari E, Moshous D, Forino C, De Martiis D, Offer C, Lanfranchi A, Giliani S, Imberti L, Pasic S, Ugazio AG, Porta F, Notarangelo LD. Hematopoietic stem cell transplantation in Omenn syndrome: a single-center experience. Bone Marrow Transplant. 2005 Jul; 36(2):107-14.
  396. Tassone L, Notarangelo LD, Bonomi V, Savoldi G, Sensi A, Soresina A, Smith CI, Porta F, Plebani A, Notarangelo LD, Badolato R. Clinical and genetic diagnosis of warts, hypogammaglobulinemia, infections, and myelokathexis syndrome in 10 patients. J Allergy Clin Immunol. 2009 May; 123(5):1170-3, 1173.e1-3.
  397. Mooster JL, Cancrini C, Simonetti A, Rossi P, Di Matteo G, Romiti ML, Di Cesare S, Notarangelo L, Geha RS, McDonald DR. Immune deficiency caused by impaired expression of nuclear factor-kappaB essential modifier (NEMO) because of a mutation in the 5' untranslated region of the NEMO gene. J Allergy Clin Immunol. 2010 Jul; 126(1):127-32.e7.
  398. Wengler GS, Notarangelo LD, Berardelli S, Pollonni G, Mella P, Fasth A, Ugazio AG, Parolini O. High prevalence of nonsense, frame shift, and splice-site mutations in 16 patients with full-blown Wiskott-Aldrich syndrome. Blood. 1995 Nov 15; 86(10):3648-54.
  399. Cassani B, Poliani PL, Moratto D, Sobacchi C, Marrella V, Imperatori L, Vairo D, Plebani A, Giliani S, Vezzoni P, Facchetti F, Porta F, Notarangelo LD, Villa A, Badolato R. Defect of regulatory T cells in patients with Omenn syndrome. J Allergy Clin Immunol. 2010 Jan; 125(1):209-16.
  400. Notarangelo LD, Giliani S, Mazza C, Mella P, Savoldi G, Rodriguez-Pérez C, Mazzolari E, Fiorini M, Duse M, Plebani A, Ugazio AG, Vihinen M, Candotti F, Schumacher RF. Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency. Defects of the gamma(c)-JAK3 signaling pathway as a model. Immunol Rev. 2000 Dec; 178:39-48.
  401. Geha RS, Notarangelo LD, Casanova JL, Chapel H, Conley ME, Fischer A, Hammarström L, Nonoyama S, Ochs HD, Puck JM, Roifman C, Seger R, Wedgwood J. Primary immunodeficiency diseases: an update from the International Union of Immunological Societies Primary Immunodeficiency Diseases Classification Committee. J Allergy Clin Immunol. 2007 Oct; 120(4):776-94.
  402. Moratto D, Gulino AV, Fontana S, Mori L, Pirovano S, Soresina A, Meini A, Imberti L, Notarangelo LD, Plebani A, Badolato R. Combined decrease of defined B and T cell subsets in a group of common variable immunodeficiency patients. Clin Immunol. 2006 Nov; 121(2):203-14.
  403. Parolini S, Bottino C, Falco M, Augugliaro R, Giliani S, Franceschini R, Ochs HD, Wolf H, Bonnefoy JY, Biassoni R, Moretta L, Notarangelo LD, Moretta A. X-linked lymphoproliferative disease. 2B4 molecules displaying inhibitory rather than activating function are responsible for the inability of natural killer cells to kill Epstein-Barr virus-infected cells. J Exp Med. 2000 Aug 7; 192(3):337-46.
  404. Grunebaum E, Mazzolari E, Porta F, Dallera D, Atkinson A, Reid B, Notarangelo LD, Roifman CM. Bone marrow transplantation for severe combined immune deficiency. JAMA. 2006 Feb 1; 295(5):508-18.
  405. Buzi F, Mella P, Pilotta A, Felappi B, Camerino G, Notarangelo LD. Frasier syndrome with childhood-onset renal failure. Horm Res. 2001; 55(2):77-80.
  406. Notarangelo LD, Santagata S, Villa A. Recombinase activating gene enzymes of lymphocytes. Curr Opin Hematol. 2001 Jan; 8(1):41-6.
  407. Revy P, Muto T, Levy Y, Geissmann F, Plebani A, Sanal O, Catalan N, Forveille M, Dufourcq-Labelouse R, Gennery A, Tezcan I, Ersoy F, Kayserili H, Ugazio AG, Brousse N, Muramatsu M, Notarangelo LD, Kinoshita K, Honjo T, Fischer A, Durandy A. Activation-induced cytidine deaminase (AID) deficiency causes the autosomal recessive form of the Hyper-IgM syndrome (HIGM2). Cell. 2000 Sep 1; 102(5):565-75.
  408. Jabara HH, McDonald DR, Janssen E, Massaad MJ, Ramesh N, Borzutzky A, Rauter I, Benson H, Schneider L, Baxi S, Recher M, Notarangelo LD, Wakim R, Dbaibo G, Dasouki M, Al-Herz W, Barlan I, Baris S, Kutukculer N, Ochs HD, Plebani A, Kanariou M, Lefranc G, Reisli I, Fitzgerald KA, Golenbock D, Manis J, Keles S, Ceja R, Chatila TA, Geha RS. DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation. Nat Immunol. 2012 May 13; 13(6):612-20.
  409. Chiarini M, Sabelli C, Melotti P, Garlanda C, Savoldi G, Mazza C, Padoan R, Plebani A, Mantovani A, Notarangelo LD, Assael BM, Badolato R. PTX3 genetic variations affect the risk of Pseudomonas aeruginosa airway colonization in cystic fibrosis patients. Genes Immun. 2010 Dec; 11(8):665-70.
  410. Irace C, Ceravolo R, Notarangelo L, Crescenzo A, Ventura G, Tamburrini O, Perticone F, Gnasso A. Comparison of endothelial function evaluated by strain gauge plethysmography and brachial artery ultrasound. Atherosclerosis. 2001 Sep; 158(1):53-9.
  411. Mazzolari E, Forino C, Razza A, Porta F, Villa A, Notarangelo LD. A single-center experience in 20 patients with infantile malignant osteopetrosis. Am J Hematol. 2009 Aug; 84(8):473-9.
  412. Notarangelo LD. Immunodeficiencies caused by genetic defects in protein kinases. Curr Opin Immunol. 1996 Aug; 8(4):448-53.
  413. Malacarne F, Benicchi T, Notarangelo LD, Mori L, Parolini S, Caimi L, Hershfield M, Notarangelo LD, Imberti L. Reduced thymic output, increased spontaneous apoptosis and oligoclonal B cells in polyethylene glycol-adenosine deaminase-treated patients. Eur J Immunol. 2005 Nov; 35(11):3376-86.
  414. Poliani PL, Facchetti F, Ravanini M, Gennery AR, Villa A, Roifman CM, Notarangelo LD. Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome. Blood. 2009 Jul 2; 114(1):105-8.
  415. Villa A, Marrella V, Rucci F, Notarangelo LD. Genetically determined lymphopenia and autoimmune manifestations. Curr Opin Immunol. 2008 Jun; 20(3):318-24.
  416. Stabile H, Carlino C, Mazza C, Giliani S, Morrone S, Notarangelo LD, Notarangelo LD, Santoni A, Gismondi A. Impaired NK-cell migration in WAS/XLT patients: role of Cdc42/WASp pathway in the control of chemokine-induced beta2 integrin high-affinity state. Blood. 2010 Apr 8; 115(14):2818-26.
  417. Poliani PL, Kisand K, Marrella V, Ravanini M, Notarangelo LD, Villa A, Peterson P, Facchetti F. Human peripheral lymphoid tissues contain autoimmune regulator-expressing dendritic cells. Am J Pathol. 2010 Mar; 176(3):1104-12.
  418. Wengler GS, Lanfranchi A, Frusca T, Verardi R, Neva A, Brugnoni D, Giliani S, Fiorini M, Mella P, Guandalini F, Mazzolari E, Pecorelli S, Notarangelo LD, Porta F, Ugazio AG. In-utero transplantation of parental CD34 haematopoietic progenitor cells in a patient with X-linked severe combined immunodeficiency (SCIDXI). Lancet. 1996 Nov 30; 348(9040):1484-7.
  419. Sayos J, Wu C, Morra M, Wang N, Zhang X, Allen D, van Schaik S, Notarangelo L, Geha R, Roncarolo MG, Oettgen H, De Vries JE, Aversa G, Terhorst C. The X-linked lymphoproliferative-disease gene product SAP regulates signals induced through the co-receptor SLAM. Nature. 1998 Oct 1; 395(6701):462-9.
  420. Notarangelo LD, Mella P, Jones A, de Saint Basile G, Savoldi G, Cranston T, Vihinen M, Schumacher RF. Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency. Hum Mutat. 2001 Oct; 18(4):255-63.
  421. Booth C, Hershfield M, Notarangelo L, Buckley R, Hoenig M, Mahlaoui N, Cavazzana-Calvo M, Aiuti A, Gaspar HB. Management options for adenosine deaminase deficiency; proceedings of the EBMT satellite workshop (Hamburg, March 2006). Clin Immunol. 2007 May; 123(2):139-47.
  422. Villa A, Notarangelo LD, Di Santo JP, Macchi PP, Strina D, Frattini A, Lucchini F, Patrosso CM, Giliani S, Mantuano E, et al. Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis. Proc Natl Acad Sci U S A. 1994 Mar 15; 91(6):2110-4.
  423. Pai SY, Notarangelo LD. Hematopoietic cell transplantation for Wiskott-Aldrich syndrome: advances in biology and future directions for treatment. Immunol Allergy Clin North Am. 2010 May; 30(2):179-94.
  424. Pangrazio A, Fasth A, Sbardellati A, Orchard PJ, Kasow KA, Raza J, Albayrak C, Albayrak D, Vanakker OM, De Moerloose B, Vellodi A, Notarangelo LD, Schlack C, Strauss G, Kühl JS, Caldana E, Lo Iacono N, Susani L, Kornak U, Schulz A, Vezzoni P, Villa A, Sobacchi C. SNX10 mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity. J Bone Miner Res. 2013 May; 28(5):1041-9.
  425. Chen R, Giliani S, Lanzi G, Mias GI, Lonardi S, Dobbs K, Manis J, Im H, Gallagher JE, Phanstiel DH, Euskirchen G, Lacroute P, Bettinger K, Moratto D, Weinacht K, Montin D, Gallo E, Mangili G, Porta F, Notarangelo LD, Pedretti S, Al-Herz W, Alfahdli W, Comeau AM, Traister RS, Pai SY, Carella G, Facchetti F, Nadeau KC, Snyder M, Notarangelo LD. Whole-exome sequencing identifies tetratricopeptide repeat domain 7A (TTC7A) mutations for combined immunodeficiency with intestinal atresias. J Allergy Clin Immunol. 2013 Sep; 132(3):656-664.e17.
  426. Rogler LE, Kosmyna B, Moskowitz D, Bebawee R, Rahimzadeh J, Kutchko K, Laederach A, Notarangelo LD, Giliani S, Bouhassira E, Frenette P, Roy-Chowdhury J, Rogler CE. Small RNAs derived from lncRNA RNase MRP have gene-silencing activity relevant to human cartilage-hair hypoplasia. Hum Mol Genet. 2014 Jan 15; 23(2):368-82.
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  433. Meazza R, Tuberosa C, Cetica V, Falco M, Parolini S, Grieve S, Griffiths GM, Sieni E, Marcenaro S, Micalizzi C, Montin D, Fagioli F, Moretta A, Mingari MC, Moretta L, Notarangelo LD, Bottino C, Aricò M, Pende D. Diagnosing XLP1 in patients with hemophagocytic lymphohistiocytosis. J Allergy Clin Immunol. 2014 Dec; 134(6):1381-1387.e7.
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  441. Kolhatkar NS, Scharping NE, Sullivan JM, Jacobs HM, Schwartz MA, Khim S, Notarangelo LD, Thrasher AJ, Rawlings DJ, Jackson SW. B-cell intrinsic TLR7 signals promote depletion of the marginal zone in a murine model of Wiskott-Aldrich syndrome. Eur J Immunol. 2015 Oct; 45(10):2773-9.
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  443. Cantaert T, Schickel JN, Bannock JM, Ng YS, Massad C, Oe T, Wu R, Lavoie A, Walter JE, Notarangelo LD, Al-Herz W, Kilic SS, Ochs HD, Nonoyama S, Durandy A, Meffre E. Activation-Induced Cytidine Deaminase Expression in Human B Cell Precursors Is Essential for Central B Cell Tolerance. Immunity. 2015 Nov 17; 43(5):884-95.
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  447. Oshima K, Imai K, Albert MH, Bittner TC, Strauss G, Filipovich AH, Morio T, Kapoor N, Dalal J, Schultz KR, Casper JT, Notarangelo LD, Ochs HD, Nonoyama S. Hematopoietic Stem Cell Transplantation for X-Linked Thrombocytopenia With Mutations in the WAS gene. J Clin Immunol. 2015 Jan; 35(1):15-21.
  448. Burberry A, Suzuki N, Wang JY, Moccia R, Mordes DA, Stewart MH, Suzuki-Uematsu S, Ghosh S, Singh A, Merkle FT, Koszka K, Li QZ, Zon L, Rossi DJ, Trowbridge JJ, Notarangelo LD, Eggan K. Loss-of-function mutations in the C9ORF72 mouse ortholog cause fatal autoimmune disease. Sci Transl Med. 2016 Jul 13; 8(347):347ra93.
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  455. Dietz AC, Duncan CN, Alter BP, Bresters D, Cowan MJ, Notarangelo L, Rosenberg PS, Shenoy S, Skinner R, Walters MC, Wagner J, Baker KS, Pulsipher MA. The Second Pediatric Blood and Marrow Transplant Consortium International Consensus Conference on Late Effects after Pediatric Hematopoietic Cell Transplantation: Defining the Unique Late Effects of Children Undergoing Hematopoietic Cell Transplantation for Immune Deficiencies, Inherited Marrow Failure Disorders, and Hemoglobinopathies. Biol Blood Marrow Transplant. 2016 Oct 11.
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  457. Wang Y, Ma CS, Ling Y, Bousfiha A, Camcioglu Y, Jacquot S, Payne K, Crestani E, Roncagalli R, Belkadi A, Kerner G, Lorenzo L, Deswarte C, Chrabieh M, Patin E, Vincent QB, Müller-Fleckenstein I, Fleckenstein B, Ailal F, Quintana-Murci L, Fraitag S, Alyanakian MA, Leruez-Ville M, Picard C, Puel A, Bustamante J, Boisson-Dupuis S, Malissen M, Malissen B, Abel L, Hovnanian A, Notarangelo LD, Jouanguy E, Tangye SG, Béziat V, Casanova JL. Dual T cell- and B cell-intrinsic deficiency in humans with biallelic RLTPR mutations. J Exp Med. 2016 Oct 17; 213(11):2413-2435.
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