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Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee

Journal of clinical immunology, 2022-10, Vol.42 (7), p.1473-1507

2022

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Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee

Journal of clinical immunology, 2020, Vol.40 (1), p.24-64

2020

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Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification

Journal of clinical immunology, 2020, Vol.40 (1), p.66-81

2020

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International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity

Journal of clinical immunology, 2018-01, Vol.38 (1), p.96-128

2018

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The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee

Journal of clinical immunology, 2021-04, Vol.41 (3), p.666-679

2021

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The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies

Journal of clinical immunology, 2018-01, Vol.38 (1), p.129-143

2018

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Simultaneous trimodal single-cell measurement of transcripts, epitopes, and chromatin accessibility using TEA-seq

eLife, 2021-04, Vol.10

2021

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Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome

Frontiers in immunology, 2018-11, Vol.9, p.2411

2018

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Ruxolitinib reverses dysregulated T helper cell responses and controls autoimmunity caused by a novel signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation

Journal of allergy and clinical immunology, 2017-05, Vol.139 (5), p.1629-1640.e2

2017

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Immune dysregulation, polyendocrinopathy, enteropathy, X-linked: Forkhead box protein 3 mutations and lack of regulatory T cells

Journal of allergy and clinical immunology, 2007-10, Vol.120 (4), p.744-750

2007

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Persistent serum protein signatures define an inflammatory subcategory of long COVID

Nature communications, 2023-06, Vol.14 (1), p.3417-3417, Article 3417

2023

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Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management

Journal of allergy and clinical immunology, 2022-01, Vol.149 (1), p.327-339

2022

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Astrovirus encephalitis in boy with X-linked agammaglobulinemia

Emerging infectious diseases, 2010-06, Vol.16 (6), p.918-925

2010

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MOCHA’s advanced statistical modeling of scATAC-seq data enables functional genomic inference in large human cohorts

Nature communications, 2024-08, Vol.15 (1), p.6828-24, Article 6828

2024

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Hematopoietic stem cell transplantation for CTLA4 deficiency

Journal of allergy and clinical immunology, 2016-08, Vol.138 (2), p.615-619.e1

2016

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Single-Cell Analysis of Normal and FOXP3-Mutant Human T Cells: FOXP3 Expression without Regulatory T Cell Development

Proceedings of the National Academy of Sciences - PNAS, 2006-04, Vol.103 (17), p.6659-6664

2006

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A comprehensive platform for analyzing longitudinal multi-omics data

Nature communications, 2023-03, Vol.14 (1), p.1684-1684, Article 1684

2023

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Multiplexed Functional Assessment of Genetic Variants in CARD11

American journal of human genetics, 2020-12, Vol.107 (6), p.1029-1043

2020

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Mechanism-Based Strategies for the Management of Autoimmunity and Immune Dysregulation in Primary Immunodeficiencies

The journal of allergy and clinical immunology in practice (Cambridge, MA), 2016-11, Vol.4 (6), p.1089-1100

2016

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Germline SAMD9L truncation variants trigger global translational repression

The Journal of experimental medicine, 2021-05, Vol.218 (5)

2021

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Diagnostic approach to the hyper-IgE syndromes: Immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis

Journal of allergy and clinical immunology, 2010-09, Vol.126 (3), p.611-617.e1

2010

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Neutralizing Anti-Cytokine Autoantibodies Against Interferon-α in Immunodysregulation Polyendocrinopathy Enteropathy X-Linked

Frontiers in immunology, 2018-03, Vol.9, p.544-544

2018

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Soluble CD40L is associated with increased oxidative burst and neutrophil extracellular trap release in Behçet's disease

Arthritis research & therapy, 2017-10, Vol.19 (1), p.235-235, Article 235

2017

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Comèl-Netherton syndrome defined as primary immunodeficiency

Journal of allergy and clinical immunology, 2009-09, Vol.124 (3), p.536-543

2009

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Is this a cure for XMEN?

Blood, 2021-12, Vol.138 (26), p.2743-2744

Torgerson, Troy R.

2021

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Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee

Human Inborn Errors of Immunity: 2019 Update on the Classification from the International Union of Immunological Societies Expert Committee

Human Inborn Errors of Immunity: 2019 Update of the IUIS Phenotypical Classification

International Union of Immunological Societies: 2017 Primary Immunodeficiency Diseases Committee Report on Inborn Errors of Immunity

The Ever-Increasing Array of Novel Inborn Errors of Immunity: an Interim Update by the IUIS Committee

The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies

Simultaneous trimodal single-cell measurement of transcripts, epitopes, and chromatin accessibility using TEA-seq

Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome

Ruxolitinib reverses dysregulated T helper cell responses and controls autoimmunity caused by a novel signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked: Forkhead box protein 3 mutations and lack of regulatory T cells

Persistent serum protein signatures define an inflammatory subcategory of long COVID

Molecular diagnosis of childhood immune dysregulation, polyendocrinopathy, and enteropathy, and implications for clinical management

Astrovirus encephalitis in boy with X-linked agammaglobulinemia

MOCHA’s advanced statistical modeling of scATAC-seq data enables functional genomic inference in large human cohorts

Hematopoietic stem cell transplantation for CTLA4 deficiency

Single-Cell Analysis of Normal and FOXP3-Mutant Human T Cells: FOXP3 Expression without Regulatory T Cell Development

A comprehensive platform for analyzing longitudinal multi-omics data

Multiplexed Functional Assessment of Genetic Variants in CARD11

Mechanism-Based Strategies for the Management of Autoimmunity and Immune Dysregulation in Primary Immunodeficiencies

Germline SAMD9L truncation variants trigger global translational repression

Diagnostic approach to the hyper-IgE syndromes: Immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis

Neutralizing Anti-Cytokine Autoantibodies Against Interferon-α in Immunodysregulation Polyendocrinopathy Enteropathy X-Linked

Soluble CD40L is associated with increased oxidative burst and neutrophil extracellular trap release in Behçet's disease

Comèl-Netherton syndrome defined as primary immunodeficiency

Is this a cure for XMEN?

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