Current Environment: Production

Janet Chou | Education

Undergraduate School

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

Janet Chou | Certifications

  • American Board of Allergy & Immunology (General)
  • American Board of Pediatrics (General)

Janet Chou | 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.

Janet Chou | Publications

  1. Genetic Predisposition to Neurological Complications in Patients with COVID-19. Biomolecules. 2023 01 09; 13(1). View Genetic Predisposition to Neurological Complications in Patients with COVID-19. Abstract

  2. Optical genome mapping identifies rare structural variations as predisposition factors associated with severe COVID-19. iScience. 2022 Feb 18; 25(2):103760. View Optical genome mapping identifies rare structural variations as predisposition factors associated with severe COVID-19. Abstract

  3. Mechanisms underlying genetic susceptibility to multisystem inflammatory syndrome in children (MIS-C). J Allergy Clin Immunol. 2021 09; 148(3):732-738.e1. View Mechanisms underlying genetic susceptibility to multisystem inflammatory syndrome in children (MIS-C). Abstract

  4. Immunoglobulins in the treatment of COVID-19 infection: Proceed with caution! Clin Immunol. 2020 07; 216:108459. View Immunoglobulins in the treatment of COVID-19 infection: Proceed with caution! Abstract

  5. 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 Hypomorphic variants in AK2 reveal the contribution of mitochondrial function to B-cell activation. Abstract

  6. Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects. J Allergy Clin Immunol. 2018 12; 142(6):1932-1946. View Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects. Abstract

  7. Correction to: Use of Genetic Testing for Primary Immunodeficiency Patients. J Clin Immunol. 2018 May; 38(4):540-541. View Correction to: Use of Genetic Testing for Primary Immunodeficiency Patients. Abstract

  8. Use of Genetic Testing for Primary Immunodeficiency Patients. J Clin Immunol. 2018 04; 38(3):320-329. View Use of Genetic Testing for Primary Immunodeficiency Patients. Abstract

  9. A young girl with severe cerebral fungal infection due to card 9 deficiency. Clin Immunol. 2018 06; 191:21-26. View A young girl with severe cerebral fungal infection due to card 9 deficiency. Abstract

  10. 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 Novel biallelic TRNT1 mutations resulting in sideroblastic anemia, combined B and T cell defects, hypogammaglobulinemia, recurrent infections, hypertrophic cardiomyopathy and developmental delay. Abstract

  11. A digenic human immunodeficiency characterized by IFNAR1 and IFNGR2 mutations. J Clin Invest. 2017 12 01; 127(12):4415-4420. View A digenic human immunodeficiency characterized by IFNAR1 and IFNGR2 mutations. Abstract

  12. DOCK8 Deficiency Presenting as an IPEX-Like Disorder. J Clin Immunol. 2017 Nov; 37(8):811-819. View DOCK8 Deficiency Presenting as an IPEX-Like Disorder. Abstract

  13. DNA recombination defects in Kuwait: Clinical, immunologic and genetic profile. Clin Immunol. 2018 02; 187:68-75. View DNA recombination defects in Kuwait: Clinical, immunologic and genetic profile. Abstract

  14. 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 A novel mutation in the JH4 domain of JAK3 causing severe combined immunodeficiency complicated by vertebral osteomyelitis. Abstract

  15. Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency. J Allergy Clin Immunol. 2018 04; 141(4):1450-1458. View Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency. Abstract

  16. 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 Detection of Sp110 by Flow Cytometry and Application to Screening Patients for Veno-occlusive Disease with Immunodeficiency. Abstract

  17. Advances in basic and clinical immunology in 2016. J Allergy Clin Immunol. 2017 Oct; 140(4):959-973. View Advances in basic and clinical immunology in 2016. Abstract

  18. 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 Combined immunodeficiency with EBV positive B cell lymphoma and epidermodysplasia verruciformis due to a novel homozygous mutation in RASGRP1. Abstract

  19. 14?Years after Discovery: Clinical Follow-up on 15 Patients with Inducible Co-Stimulator Deficiency. Front Immunol. 2017; 8:964. View 14?Years after Discovery: Clinical Follow-up on 15 Patients with Inducible Co-Stimulator Deficiency. Abstract

  20. Uses of Next-Generation Sequencing Technologies for the Diagnosis of Primary Immunodeficiencies. Front Immunol. 2017; 8:847. View Uses of Next-Generation Sequencing Technologies for the Diagnosis of Primary Immunodeficiencies. Abstract

  21. 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 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. Abstract

  22. 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 Cernunnos deficiency associated with BCG adenitis and autoimmunity: First case from the national Iranian registry and review of the literature. Abstract

  23. Human RELA haploinsufficiency results in autosomal-dominant chronic mucocutaneous ulceration. J Exp Med. 2017 Jul 03; 214(7):1937-1947. View Human RELA haploinsufficiency results in autosomal-dominant chronic mucocutaneous ulceration. Abstract

  24. 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 Exaggerated follicular helper T-cell responses in patients with LRBA deficiency caused by failure of CTLA4-mediated regulation. Abstract

  25. The LRRC8A Mediated "Swell Activated" Chloride Conductance Is Dispensable for Vacuolar Homeostasis in Neutrophils. Front Pharmacol. 2017; 8:262. View The LRRC8A Mediated "Swell Activated" Chloride Conductance Is Dispensable for Vacuolar Homeostasis in Neutrophils. Abstract

  26. 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 Leucine-rich repeat containing 8A (LRRC8A)-dependent volume-regulated anion channel activity is dispensable for T-cell development and function. Abstract

  27. Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency. J Clin Invest. 2016 11 01; 126(11):4389. View Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency. Abstract

  28. Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity. J Clin Invest. 2016 11 01; 126(11):4219-4236. View Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity. Abstract

  29. 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 Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation. Abstract

  30. Epidermodysplasia verruciformis as a manifestation of ARTEMIS deficiency in a young adult. J Allergy Clin Immunol. 2017 01; 139(1):372-375.e4. View Epidermodysplasia verruciformis as a manifestation of ARTEMIS deficiency in a young adult. Abstract

  31. Mutations in pyrin masquerading as a primary immunodeficiency. Clin Immunol. 2016 Oct; 171:65-66. View Mutations in pyrin masquerading as a primary immunodeficiency. Abstract

  32. 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 Hematopoietic stem cell transplantation outcomes for 11 patients with dedicator of cytokinesis 8 deficiency. Abstract

  33. 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 Combined immunodeficiency due to a homozygous mutation in ORAI1 that deletes the C-terminus that interacts with STIM 1. Abstract

  34. 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 Chronic mucocutaneous candidiasis associated with an SH2 domain gain-of-function mutation that enhances STAT1 phosphorylation. Abstract

  35. Spectrum of Phenotypes Associated with Mutations in LRBA. J Clin Immunol. 2016 Jan; 36(1):33-45. View Spectrum of Phenotypes Associated with Mutations in LRBA. Abstract

  36. A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency. Nat Genet. 2016 Jan; 48(1):74-8. View A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency. Abstract

  37. 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 Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association. Abstract

  38. Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency. J Clin Invest. 2015 Nov 02; 125(11):4135-48. View Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency. Abstract

  39. 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 Autoimmune lymphoproliferative syndrome caused by a homozygous FasL mutation that disrupts FasL assembly. Abstract

  40. 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 Broad spectrum of autoantibodies in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia. Abstract

  41. A novel mutation in NCF2 associated with autoimmune disease and a solitary late-onset infection. Clin Immunol. 2015 Dec; 161(2):128-30. View A novel mutation in NCF2 associated with autoimmune disease and a solitary late-onset infection. Abstract

  42. Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections. N Engl J Med. 2015 Jun 18; 372(25):2409-22. View Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections. Abstract

  43. 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 A novel mutation in ORAI1 presenting with combined immunodeficiency and residual T-cell function. Abstract

  44. 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 A novel mutation in ICOS presenting as hypogammaglobulinemia with susceptibility to opportunistic pathogens. Abstract

  45. 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 Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA. Abstract

  46. A novel mutation in FOXN1 resulting in SCID: a case report and literature review. Clin Immunol. 2014 Nov; 155(1):30-32. View A novel mutation in FOXN1 resulting in SCID: a case report and literature review. Abstract

  47. 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 Lessons in gene hunting: a RAG1 mutation presenting with agammaglobulinemia and absence of B cells. Abstract

  48. 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 A novel disease-causing CD40L mutation reduces expression of CD40 ligand, but preserves CD40 binding capacity. Abstract

  49. 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 Leucine-rich repeat containing 8A (LRRC8A) is essential for T lymphocyte development and function. Abstract

  50. Presence of hypogammaglobulinemia and abnormal antibody responses in GATA2 deficiency. J Allergy Clin Immunol. 2014 Jul; 134(1):223-6. View Presence of hypogammaglobulinemia and abnormal antibody responses in GATA2 deficiency. Abstract

  51. Orbital follicular hyperplasia in common variable immune deficiency syndrome. Ophthalmic Plast Reconstr Surg. 2013 Nov-Dec; 29(6):e160-2. View Orbital follicular hyperplasia in common variable immune deficiency syndrome. Abstract

  52. 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 Gene hunting in the genomic era: approaches to diagnostic dilemmas in patients with primary immunodeficiencies. Abstract

  53. 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 A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency. Abstract

  54. 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 Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency. Abstract

  55. 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 Use of whole exome and genome sequencing in the identification of genetic causes of primary immunodeficiencies. Abstract

  56. 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 A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome. Abstract

  57. Predictors of clinical success in a multidisciplinary model of atopic dermatitis treatment. Allergy Asthma Proc. 2011 Sep-Oct; 32(5):377-83. View Predictors of clinical success in a multidisciplinary model of atopic dermatitis treatment. Abstract

  58. NOD2-associated diseases: Bridging innate immunity and autoinflammation. Clin Immunol. 2010 Mar; 134(3):251-61. View NOD2-associated diseases: Bridging innate immunity and autoinflammation. Abstract

  59. Leukocyte-versus microparticle-mediated tissue factor transfer during arteriolar thrombus development. J Leukoc Biol. 2005 Dec; 78(6):1318-26. View Leukocyte-versus microparticle-mediated tissue factor transfer during arteriolar thrombus development. Abstract

  60. Hematopoietic cell-derived microparticle tissue factor contributes to fibrin formation during thrombus propagation. Blood. 2004 Nov 15; 104(10):3190-7. View Hematopoietic cell-derived microparticle tissue factor contributes to fibrin formation during thrombus propagation. Abstract

  61. 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 Accumulation of tissue factor into developing thrombi in vivo is dependent upon microparticle P-selectin glycoprotein ligand 1 and platelet P-selectin. Abstract

  62. 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 Filamin A, the Arp2/3 complex, and the morphology and function of cortical actin filaments in human melanoma cells. Abstract

  63. 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 Activation of the small GTPases, rac and cdc42, after ligation of the platelet PAR-1 receptor. Abstract

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