Janet Chou

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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