Janet Chou, MD
Section Chief, Clinical Immunology; Director, Immunogenomics Program;
Associate Professor of Pediatrics, Harvard Medical School
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Janet Chou, MD
Section Chief, Clinical Immunology; Director, Immunogenomics Program;
Associate Professor of Pediatrics, Harvard Medical School
Medical Services
Languages
English
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
Certifications
American Board of Allergy & Immunology (General)
American Board of Pediatrics (General)
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.
Publications
Genetic Predisposition to Neurological Complications in Patients with COVID-19. View Abstract
Optical genome mapping identifies rare structural variations as predisposition factors associated with severe COVID-19. View Abstract
Mechanisms underlying genetic susceptibility to multisystem inflammatory syndrome in children (MIS-C). View Abstract
Immunoglobulins in the treatment of COVID-19 infection: Proceed with caution! View Abstract
Hypomorphic variants in AK2 reveal the contribution of mitochondrial function to B-cell activation. View Abstract
Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4-insufficient subjects. View Abstract
Correction to: Use of Genetic Testing for Primary Immunodeficiency Patients. View Abstract
Use of Genetic Testing for Primary Immunodeficiency Patients. View Abstract
A young girl with severe cerebral fungal infection due to card 9 deficiency. View Abstract
Novel biallelic TRNT1 mutations resulting in sideroblastic anemia, combined B and T cell defects, hypogammaglobulinemia, recurrent infections, hypertrophic cardiomyopathy and developmental delay. View Abstract
A digenic human immunodeficiency characterized by IFNAR1 and IFNGR2 mutations. View Abstract
DOCK8 Deficiency Presenting as an IPEX-Like Disorder. View Abstract
DNA recombination defects in Kuwait: Clinical, immunologic and genetic profile. View Abstract
A novel mutation in the JH4 domain of JAK3 causing severe combined immunodeficiency complicated by vertebral osteomyelitis. View Abstract
Clinical, immunologic, and genetic spectrum of 696 patients with combined immunodeficiency. View Abstract
Detection of Sp110 by Flow Cytometry and Application to Screening Patients for Veno-occlusive Disease with Immunodeficiency. View Abstract
Advances in basic and clinical immunology in 2016. View Abstract
Combined immunodeficiency with EBV positive B cell lymphoma and epidermodysplasia verruciformis due to a novel homozygous mutation in RASGRP1. View Abstract
14?Years after Discovery: Clinical Follow-up on 15 Patients with Inducible Co-Stimulator Deficiency. View Abstract
Uses of Next-Generation Sequencing Technologies for the Diagnosis of Primary Immunodeficiencies. View Abstract
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. View Abstract
Cernunnos deficiency associated with BCG adenitis and autoimmunity: First case from the national Iranian registry and review of the literature. View Abstract
Human RELA haploinsufficiency results in autosomal-dominant chronic mucocutaneous ulceration. View Abstract
Exaggerated follicular helper T-cell responses in patients with LRBA deficiency caused by failure of CTLA4-mediated regulation. View Abstract
The LRRC8A Mediated "Swell Activated" Chloride Conductance Is Dispensable for Vacuolar Homeostasis in Neutrophils. View Abstract
Leucine-rich repeat containing 8A (LRRC8A)-dependent volume-regulated anion channel activity is dispensable for T-cell development and function. View Abstract
Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency. View Abstract
Deficiency of base excision repair enzyme NEIL3 drives increased predisposition to autoimmunity. View Abstract
Long-term outcomes of 176 patients with X-linked hyper-IgM syndrome treated with or without hematopoietic cell transplantation. View Abstract
Epidermodysplasia verruciformis as a manifestation of ARTEMIS deficiency in a young adult. View Abstract
Mutations in pyrin masquerading as a primary immunodeficiency. View Abstract
Hematopoietic stem cell transplantation outcomes for 11 patients with dedicator of cytokinesis 8 deficiency. View Abstract
Combined immunodeficiency due to a homozygous mutation in ORAI1 that deletes the C-terminus that interacts with STIM 1. View Abstract
Chronic mucocutaneous candidiasis associated with an SH2 domain gain-of-function mutation that enhances STAT1 phosphorylation. View Abstract
Spectrum of Phenotypes Associated with Mutations in LRBA. View Abstract
A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency. View Abstract
Recurrent viral infections associated with a homozygous CORO1A mutation that disrupts oligomerization and cytoskeletal association. View Abstract
Broad-spectrum antibodies against self-antigens and cytokines in RAG deficiency. View Abstract
Autoimmune lymphoproliferative syndrome caused by a homozygous FasL mutation that disrupts FasL assembly. View Abstract
Broad spectrum of autoantibodies in patients with Wiskott-Aldrich syndrome and X-linked thrombocytopenia. View Abstract
A novel mutation in NCF2 associated with autoimmune disease and a solitary late-onset infection. View Abstract
Inherited DOCK2 Deficiency in Patients with Early-Onset Invasive Infections. View Abstract
A novel mutation in ORAI1 presenting with combined immunodeficiency and residual T-cell function. View Abstract
A novel mutation in ICOS presenting as hypogammaglobulinemia with susceptibility to opportunistic pathogens. View Abstract
Regulatory T-cell deficiency and immune dysregulation, polyendocrinopathy, enteropathy, X-linked-like disorder caused by loss-of-function mutations in LRBA. View Abstract
A novel mutation in FOXN1 resulting in SCID: a case report and literature review. View Abstract
Lessons in gene hunting: a RAG1 mutation presenting with agammaglobulinemia and absence of B cells. View Abstract
A novel disease-causing CD40L mutation reduces expression of CD40 ligand, but preserves CD40 binding capacity. View Abstract
Leucine-rich repeat containing 8A (LRRC8A) is essential for T lymphocyte development and function. View Abstract
Presence of hypogammaglobulinemia and abnormal antibody responses in GATA2 deficiency. View Abstract
Orbital follicular hyperplasia in common variable immune deficiency syndrome. View Abstract
Gene hunting in the genomic era: approaches to diagnostic dilemmas in patients with primary immunodeficiencies. View Abstract
A homozygous mucosa-associated lymphoid tissue 1 (MALT1) mutation in a family with combined immunodeficiency. View Abstract
Defective actin accumulation impairs human natural killer cell function in patients with dedicator of cytokinesis 8 deficiency. View Abstract
Use of whole exome and genome sequencing in the identification of genetic causes of primary immunodeficiencies. View Abstract
A novel homozygous mutation in recombination activating gene 2 in 2 relatives with different clinical phenotypes: Omenn syndrome and hyper-IgM syndrome. View Abstract
Predictors of clinical success in a multidisciplinary model of atopic dermatitis treatment. View Abstract
NOD2-associated diseases: Bridging innate immunity and autoinflammation. View Abstract
Leukocyte-versus microparticle-mediated tissue factor transfer during arteriolar thrombus development. View Abstract
Hematopoietic cell-derived microparticle tissue factor contributes to fibrin formation during thrombus propagation. View Abstract
Accumulation of tissue factor into developing thrombi in vivo is dependent upon microparticle P-selectin glycoprotein ligand 1 and platelet P-selectin. View Abstract
Filamin A, the Arp2/3 complex, and the morphology and function of cortical actin filaments in human melanoma cells. View Abstract
Activation of the small GTPases, rac and cdc42, after ligation of the platelet PAR-1 receptor. View Abstract