EDUCATION

Undergraduate Degree

  • Harvard University , 1998 , Boston , MA

Medical School

  • Harvard Medical School , 2004 , Boston , MA

Internship

  • Boston Children's Hospital , 2005 , Boston , MA

Residency

  • Boston Children's Hospital , 2007 , Boston , MA

Fellowship

Allergy and Immunology
  • Boston Children's Hospital , 2010 , Boston , MA

PROFESSIONAL HISTORY

Dr. Janet Chou’s clinical practice includes patients with allergic diseases or immunodeficiencies. Her research focuses on the genetic and molecular mechanisms driving disorders of immune dysfunction, with the ultimate goal of finding rational targets for the treatment of immune dysfunction.

Dr. Chou serves as an expert for the Division of Immunology for Boston Children's Hospital Precision Medicine Service. For more information about the Precision Medicine Service please visit bostonchildrens.org/precisionmed.

CERTIFICATIONS

  • American Board of Pediatrics, General Pediatrics
  • American Board of Allergy and Immunology

PUBLICATIONS

Publications powered by Harvard Catalyst Profiles

  1. Immunoglobulins in the treatment of COVID-19 infection: Proceed with caution! Clin Immunol. 2020 07; 216:108459. View abstract
  2. Hypomorphic variants in AK2 reveal the contribution of mitochondrial function to B-cell activation. J Allergy Clin Immunol. 2020 07; 146(1):192-202. View abstract
  3. Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects. J Allergy Clin Immunol. 2018 12; 142(6):1932-1946. View abstract
  4. Correction to: Use of Genetic Testing for Primary Immunodeficiency Patients. J Clin Immunol. 2018 May; 38(4):540-541. View abstract
  5. Use of Genetic Testing for Primary Immunodeficiency Patients. J Clin Immunol. 2018 04; 38(3):320-329. View abstract
  6. A young girl with severe cerebral fungal infection due to card 9 deficiency. Clin Immunol. 2018 06; 191:21-26. View abstract
  7. Novel biallelic TRNT1 mutations resulting in sideroblastic anemia, combined B and T cell defects, hypogammaglobulinemia, recurrent infections, hypertrophic cardiomyopathy and developmental delay. Clin Immunol. 2018 03; 188:20-22. View abstract
  8. A digenic human immunodeficiency characterized by IFNAR1 and IFNGR2 mutations. J Clin Invest. 2017 12 01; 127(12):4415-4420. View abstract
  9. DOCK8 Deficiency Presenting as an IPEX-Like Disorder. J Clin Immunol. 2017 Nov; 37(8):811-819. View abstract
  10. DNA recombination defects in Kuwait: Clinical, immunologic and genetic profile. Clin Immunol. 2018 02; 187:68-75. View abstract
  11. A novel mutation in the JH4 domain of JAK3 causing severe combined immunodeficiency complicated by vertebral osteomyelitis. Clin Immunol. 2017 10; 183:198-200. View abstract
  12. Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency. J Allergy Clin Immunol. 2018 04; 141(4):1450-1458. View abstract
  13. Detection of Sp110 by Flow Cytometry and Application to Screening Patients for Veno-occlusive Disease with Immunodeficiency. J Clin Immunol. 2017 Oct; 37(7):707-714. View abstract
  14. Advances in basic and clinical immunology in 2016. J Allergy Clin Immunol. 2017 Oct; 140(4):959-973. View abstract
  15. 14?Years after Discovery: Clinical Follow-up on 15 Patients with Inducible Co-Stimulator Deficiency. Front Immunol. 2017; 8:964. View abstract
  16. Combined immunodeficiency with EBV positive B cell lymphoma and epidermodysplasia verruciformis due to a novel homozygous mutation in RASGRP1. Clin Immunol. 2017 10; 183:142-144. View abstract
  17. Uses of Next-Generation Sequencing Technologies for the Diagnosis of Primary Immunodeficiencies. Front Immunol. 2017; 8:847. View abstract
  18. Natural Killer Cells from Patients with Recombinase-Activating Gene and Non-Homologous End Joining Gene Defects Comprise a Higher Frequency of CD56bright NKG2A+++ Cells, and Yet Display Increased Degranulation and Higher Perforin Content. Front Immunol. 2017; 8:798. View abstract
  19. Cernunnos deficiency associated with BCG adenitis and autoimmunity: First case from the national Iranian registry and review of the literature. Clin Immunol. 2017 10; 183:201-206. View abstract
  20. Human RELA haploinsufficiency results in autosomal-dominant chronic mucocutaneous ulceration. J Exp Med. 2017 Jul 03; 214(7):1937-1947. View abstract
  21. Exaggerated follicular helper T-cell responses in patients with LRBA deficiency caused by failure of CTLA4-mediated regulation. J Allergy Clin Immunol. 2018 03; 141(3):1050-1059.e10. View abstract
  22. The LRRC8A Mediated "Swell Activated" Chloride Conductance Is Dispensable for Vacuolar Homeostasis in Neutrophils. Front Pharmacol. 2017; 8:262. View abstract
  23. Leucine-rich repeat containing 8A (LRRC8A)-dependent volume-regulated anion channel activity is dispensable for T-cell development and function. J Allergy Clin Immunol. 2017 Dec; 140(6):1651-1659.e1. View abstract
  24. Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency. J Clin Invest. 2016 11 01; 126(11):4389. View abstract
  25. Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity. J Clin Invest. 2016 11 01; 126(11):4219-4236. View abstract
  26. Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation. J Allergy Clin Immunol. 2017 Apr; 139(4):1282-1292. View abstract
  27. Epidermodysplasia verruciformis as a manifestation of ARTEMIS deficiency in a young adult. J Allergy Clin Immunol. 2017 01; 139(1):372-375.e4. View abstract
  28. Mutations in pyrin masquerading as a primary immunodeficiency. Clin Immunol. 2016 Oct; 171:65-66. View abstract
  29. Hematopoietic stem cell transplantation outcomes for 11 patients with dedicator of cytokinesis 8 deficiency. J Allergy Clin Immunol. 2016 09; 138(3):852-859.e3. View abstract
  30. Combined immunodeficiency due to a homozygous mutation in ORAI1 that deletes the C-terminus that interacts with STIM 1. Clin Immunol. 2016 05; 166-167:100-2. View abstract
  31. Chronic mucocutaneous candidiasis associated with an SH2 domain gain-of-function mutation that enhances STAT1 phosphorylation. J Allergy Clin Immunol. 2016 07; 138(1):297-299. View abstract
  32. Spectrum of Phenotypes Associated with Mutations in LRBA. J Clin Immunol. 2016 Jan; 36(1):33-45. View abstract
  33. A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency. Nat Genet. 2016 Jan; 48(1):74-8. View abstract
  34. Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association. J Allergy Clin Immunol. 2016 Mar; 137(3):879-88.e2. View abstract
  35. Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency. J Clin Invest. 2015 Nov 02; 125(11):4135-48. View abstract
  36. Autoimmune lymphoproliferative syndrome caused by a homozygous FasL mutation that disrupts FasL assembly. J Allergy Clin Immunol. 2016 Jan; 137(1):324-327.e2. View abstract
  37. Broad spectrum of autoantibodies in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia. J Allergy Clin Immunol. 2015 Nov; 136(5):1401-4.e1-3. View abstract
  38. A novel mutation in NCF2 associated with autoimmune disease and a solitary late-onset infection. Clin Immunol. 2015 Dec; 161(2):128-30. View abstract
  39. Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections. N Engl J Med. 2015 Jun 18; 372(25):2409-22. View abstract
  40. A novel mutation in ORAI1 presenting with combined immunodeficiency and residual T-cell function. J Allergy Clin Immunol. 2015 Aug; 136(2):479-482.e1. View abstract
  41. A novel mutation in ICOS presenting as hypogammaglobulinemia with susceptibility to opportunistic pathogens. J Allergy Clin Immunol. 2015 Sep; 136(3):794-797.e1. View abstract
  42. Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA. J Allergy Clin Immunol. 2015 Jan; 135(1):217-27. View abstract
  43. A novel mutation in FOXN1 resulting in SCID: a case report and literature review. Clin Immunol. 2014 Nov; 155(1):30-32. View abstract
  44. 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. View abstract
  45. A novel disease-causing CD40L mutation reduces expression of CD40 ligand, but preserves CD40 binding capacity. Clin Immunol. 2014 Aug; 153(2):288-91. View abstract
  46. Leucine-rich repeat containing 8A (LRRC8A) is essential for T lymphocyte development and function. J Exp Med. 2014 May 05; 211(5):929-42. View abstract
  47. Presence of hypogammaglobulinemia and abnormal antibody responses in GATA2 deficiency. J Allergy Clin Immunol. 2014 Jul; 134(1):223-6. View abstract
  48. Orbital follicular hyperplasia in common variable immune deficiency syndrome. Ophthalmic Plast Reconstr Surg. 2013 Nov-Dec; 29(6):e160-2. View abstract
  49. Gene hunting in the genomic era: approaches to diagnostic dilemmas in patients with primary immunodeficiencies. J Allergy Clin Immunol. 2014 Aug; 134(2):262-8. View abstract
  50. A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency. J Allergy Clin Immunol. 2013 Jul; 132(1):151-8. View abstract
  51. Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency. J Allergy Clin Immunol. 2013 Mar; 131(3):840-8. View abstract
  52. Use of whole exome and genome sequencing in the identification of genetic causes of primary immunodeficiencies. Curr Opin Allergy Clin Immunol. 2012 Dec; 12(6):623-8. View abstract
  53. 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. View abstract
  54. Predictors of clinical success in a multidisciplinary model of atopic dermatitis treatment. Allergy Asthma Proc. 2011 Sep-Oct; 32(5):377-83. View abstract
  55. NOD2-associated diseases: Bridging innate immunity and autoinflammation. Clin Immunol. 2010 Mar; 134(3):251-61. View abstract
  56. Leukocyte-versus microparticle-mediated tissue factor transfer during arteriolar thrombus development. J Leukoc Biol. 2005 Dec; 78(6):1318-26. View abstract
  57. Hematopoietic cell-derived microparticle tissue factor contributes to fibrin formation during thrombus propagation. Blood. 2004 Nov 15; 104(10):3190-7. View abstract
  58. Accumulation of tissue factor into developing thrombi in vivo is dependent upon microparticle P-selectin glycoprotein ligand 1 and platelet P-selectin. J Exp Med. 2003 Jun 02; 197(11):1585-98. View abstract
  59. Filamin A, the Arp2/3 complex, and the morphology and function of cortical actin filaments in human melanoma cells. J Cell Biol. 2001 Nov 12; 155(4):511-7. View abstract
  60. Activation of the small GTPases, rac and cdc42, after ligation of the platelet PAR-1 receptor. Blood. 2000 Feb 01; 95(3):959-64. View abstract