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

A monoallelic activating mutation in RAC2 resulting in a combined immunodeficiency

(2019) Vassilios Lougaris et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Novel Proteasome Assembly Chaperone mutations in PSMG2/PAC2, cause the autoinflammatory interferonopathy, CANDLE/PRAAS4

(2019) Adriana A. de Jesus et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Mechanism-Based Precision Therapy for the Treatment of Primary Immunodeficiency and Primary Immunodysregulatory Diseases

(2019) Jennifer W. Leiding et al.   Journal of Allergy and Clinical Immunology-In Practice

An essential role for the Zn2+ transporter ZIP7 in B cell development

(2019) Consuelo Anzilotti et al.   NATURE IMMUNOLOGY

Immune Dysregulation and Disease Pathogenesis due to Activating Mutations in PIK3CD—the Goldilocks’ Effect

(2019) Stuart G. Tangye et al.   JOURNAL OF CLINICAL IMMUNOLOGY

F-BAR domain only protein 1 (FCHO1) deficiency is a novel cause of combined immune deficiency in human subjects

(2019) Enrica Calzoni et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Immunodeficiency and Epstein Barr virus induced lymphoproliferation caused by 4-1BB deficiency

(2019) Mohammed Alosaimi et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Dominant activating RAC2 mutation with lymphopenia, immunodeficiency and cytoskeletal defects

(2019) Amy P. Hsu et al.   BLOOD

Combined immunodeficiency in a patient with deficiency of c-Rel

(2019) Sarah Beaussant-Cohen et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Human interleukin-2 receptor β mutations associated with defects in immunity and peripheral tolerance

(2019) Zinan Zhang et al.   JOURNAL OF EXPERIMENTAL MEDICINE

A novel human IL2RB mutation results in T and NK cell–driven immune dysregulation

(2019) Isabel Z. Fernandez et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Homozygosity for TYK2 P1104A underlies tuberculosis in about 1% of patients in a cohort of European ancestry

(2019) Gaspard Kerner et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Loss of the interleukin-6 receptor causes immunodeficiency, atopy, and abnormal inflammatory responses

(2019) Sarah Spencer et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Inherited IL-18BP deficiency in human fulminant viral hepatitis

(2019) Serkan Belkaya et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Inherited IFNAR1 deficiency in otherwise healthy patients with adverse reaction to measles and yellow fever live vaccines

(2019) Nicholas Hernandez et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Human DEF6 deficiency underlies an immunodeficiency syndrome with systemic autoimmunity and aberrant CTLA-4 homeostasis

(2019) Nina K. Serwas et al.   Nature Communications

Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis

(2019) Marita Bosticardo et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CD137 deficiency causes immune dysregulation with predisposition to lymphomagenesis

(2019) Ido Somekh et al.   BLOOD

Heterozygous activating mutation in RAC2 causes infantile-onset combined immunodeficiency with susceptibility to viral infections

(2019) Svetlana O. Sharapova et al.   CLINICAL IMMUNOLOGY

A dominant activating RAC2 variant associated with immunodeficiency and pulmonary disease

(2019) B.M. Smits et al.   CLINICAL IMMUNOLOGY

Human inborn errors of immunity to infection affecting cells other than leukocytes: from the immune system to the whole organism

(2019) Shen-Ying Zhang et al.   CURRENT OPINION IN IMMUNOLOGY

Polymerase δ deficiency causes syndromic immunodeficiency with replicative stress

(2019) Cecilia Domínguez Conde et al.   JOURNAL OF CLINICAL INVESTIGATION

Concomitant PIK3CD and TNFRSF9 deficiencies cause chronic active Epstein-Barr virus infection of T cells

(2019) Rémy Rodriguez et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Homozygous NLRP1 gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis

(2019) Scott B. Drutman et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Flow Cytometric-Based Analysis of Defects in Lymphocyte Differentiation and Function Due to Inborn Errors of Immunity

(2019) Cindy S. Ma et al.   Frontiers in Immunology

Combined immunodeficiency caused by a loss-of-function mutation in DNA polymerase delta 1

(2019) Ye Cui et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Defining the biological responses of IL-6 by the study of a novel IL-6 receptor chain immunodeficiency

(2019) Amit Nahum et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Mutations in topoisomerase IIβ result in a B cell immunodeficiency

(2019) Lori Broderick et al.   Nature Communications

Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia

(2018) Kazutoshi Cho et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations inSRP54gene cause severe congenital neutropenia as well as Shwachman-Diamond-like syndrome

(2018) Christine Bellanné-Chantelot et al.   BLOOD

Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection

(2018) Shen-Ying Zhang et al.   CELL

Human ALPI deficiency causes inflammatory bowel disease and highlights a key mechanism of gut homeostasis

(2018) Marianna Parlato et al.   EMBO Molecular Medicine

A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3

(2018) Dorien Schepers et al.   HUMAN MUTATION

RELA haploinsufficiency in CD4 lymphoproliferative disease with autoimmune cytopenias

(2018) William A. Comrie et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Phenotype, penetrance, and treatment of 133 cytotoxic T-lymphocyte antigen 4–insufficient subjects

(2018) Charlotte Schwab et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Plasma cell deficiency in human subjects with heterozygous mutations in Sec61 translocon alpha 1 subunit (SEC61A1)

(2018) Desirée Schubert et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Primary immunodeficiency disorder caused by phosphoinositide 3-kinase delta (PI3Kδ) deficiency

(2018) Georgios Sogkas et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Dominant-negative IKZF1 mutations cause a T, B, and myeloid cell combined immunodeficiency

(2018) David Boutboul et al.   JOURNAL OF CLINICAL INVESTIGATION

Germline deletion of CIN85 in humans with X chromosome–linked antibody deficiency

(2018) Baerbel Keller et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy

(2018) Daniel Kotlarz et al.   NATURE GENETICS

BiallelicRIPK1mutations in humans cause severe immunodeficiency, arthritis, and intestinal inflammation

(2018) Delphine Cuchet-Lourenço et al.   SCIENCE

What do primary immunodeficiencies tell us about the essentiality/redundancy of immune responses?

(2018) Alain Fischer et al.   SEMINARS IN IMMUNOLOGY

Human genetics of infectious diseases: Unique insights into immunological redundancy

(2018) Jean-Laurent Casanova et al.   SEMINARS IN IMMUNOLOGY

Dominant-negative STAT5B mutations cause growth hormone insensitivity with short stature and mild immune dysregulation

(2018) Jürgen Klammt et al.   Nature Communications

IRF4 haploinsufficiency in a family with Whipple’s disease

(2018) Antoine Guérin et al.   eLife

Autosomal Recessive Agammaglobulinemia - first case with a novel TCF3 mutation from Pakistan

(2018) Sonia Qureshi et al.   CLINICAL IMMUNOLOGY

Lessons learned from the study of human inborn errors of innate immunity

(2018) Giorgia Bucciol et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Hypomorphic caspase activation and recruitment domain 11 (CARD11) mutations associated with diverse immunologic phenotypes with or without atopic disease

(2018) Batsukh Dorjbal et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Life-threatening influenza pneumonitis in a child with inherited IRF9 deficiency

(2018) Nicholas Hernandez et al.   JOURNAL OF EXPERIMENTAL MEDICINE

The human CIB1–EVER1–EVER2 complex governs keratinocyte-intrinsic immunity to β-papillomaviruses

(2018) Sarah Jill de Jong et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency

(2018) Xiao-Fei Kong et al.   NATURE IMMUNOLOGY

The CBM-opathies—A Rapidly Expanding Spectrum of Human Inborn Errors of Immunity Caused by Mutations in the CARD11-BCL10-MALT1 Complex

(2018) Henry Y. Lu et al.   Frontiers in Immunology

Selective loss of function variants in IL6ST cause Hyper-IgE Syndrome with distinct impairments of T cell phenotype and function

(2018) Tala Shahin et al.   HAEMATOLOGICA

Human primary immunodeficiency caused by expression of a kinase-dead p110δ mutant

(2018) Sarah Beaussant Cohen et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

EROS/CYBC1 mutations: Decreased NADPH oxidase function and chronic granulomatous disease

(2018) David C. Thomas et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Biallelic mutations in DNA ligase 1 underlie a spectrum of immune deficiencies

(2018) Patrick Maffucci et al.   JOURNAL OF CLINICAL INVESTIGATION

Loss of human ICOSL results in combined immunodeficiency

(2018) Lucie Roussel et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Gain-of-function IKBKB mutation causes human combined immune deficiency

(2018) Chelisa Cardinez et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome

(2018) Tenzin Gayden et al.   NATURE GENETICS

Human RIPK1 deficiency causes combined immunodeficiency and inflammatory bowel diseases

(2018) Yue Li et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A homozygous loss-of-function mutation leading to CYBC1 deficiency causes chronic granulomatous disease

(2018) Gudny A. Arnadottir et al.   Nature Communications

Loss of ARHGEF1 causes a human primary antibody deficiency

(2018) Amine Bouafia et al.   JOURNAL OF CLINICAL INVESTIGATION

Homozygous transcription factor 3 gene (TCF3) mutation is associated with severe hypogammaglobulinemia and B-cell acute lymphoblastic leukemia

(2017) Meriem Ben-Ali et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies

(2017) Aziz Bousfiha et al.   JOURNAL OF CLINICAL IMMUNOLOGY

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

(2017) Capucine Picard et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Inborn errors in RNA polymerase III underlie severe varicella zoster virus infections

(2017) Benson Ogunjimi et al.   JOURNAL OF CLINICAL INVESTIGATION

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features

(2017) Raphael Carapito et al.   JOURNAL OF CLINICAL INVESTIGATION

HumanRELAhaploinsufficiency results in autosomal-dominant chronic mucocutaneous ulceration

(2017) Yousef R. Badran et al.   JOURNAL OF EXPERIMENTAL MEDICINE

ERBIN deficiency links STAT3 and TGF-β pathway defects with atopy in humans

(2017) J.J. Lyons et al.   JOURNAL OF EXPERIMENTAL MEDICINE

A biallelic mutation in IL6ST encoding the GP130 co-receptor causes immunodeficiency and craniosynostosis

(2017) Tobias Schwerd et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Germline hypomorphic CARD11 mutations in severe atopic disease

(2017) Chi A Ma et al.   NATURE GENETICS

Update on Lysinuric Protein Intolerance, a Multi-faceted Disease Retrospective cohort analysis from birth to adulthood

(2017) Wladimir Mauhin et al.   Orphanet Journal of Rare Diseases

Type I interferon-mediated autoinflammation due to DNase II deficiency

(2017) Mathieu P. Rodero et al.   Nature Communications

Activating de novo mutations in NFE2L2 encoding NRF2 cause a multisystem disorder

(2017) Peter Huppke et al.   Nature Communications

Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S , which Encode Subcomponents C1r and C1s of Complement

(2016) Ines Kapferer-Seebacher et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype

(2016) J. Toubiana et al.   BLOOD

Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation

(2016) Franklin L. Zhong et al.   CELL

Variants in TRIM22 That Affect NOD2 Signaling Are Associated With Very-Early-Onset Inflammatory Bowel Disease

(2016) Qi Li et al.   GASTROENTEROLOGY

Exome and genome sequencing for inborn errors of immunity

(2016) Isabelle Meyts et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

An autosomal recessive DNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus

(2016) A Carbonella et al.   LUPUS

Loss of B Cells in Patients with Heterozygous Mutations in IKAROS

(2016) Hye Sun Kuehn et al.   NEW ENGLAND JOURNAL OF MEDICINE

Development of the Bruton's tyrosine kinase inhibitor ibrutinib for B cell malignancies

(2015) Urte Gayko et al.   Annals of the New York Academy of Sciences

RAC2 loss-of-function mutation in 2 siblings with characteristics of common variable immunodeficiency

(2015) Omar K. Alkhairy et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production

(2015) Anja Brehm et al.   JOURNAL OF CLINICAL INVESTIGATION

Patients with LRBA deficiency show CTLA4 loss and immune dysregulation responsive to abatacept therapy

(2015) B. Lo et al.   SCIENCE

Contribution of high-throughput DNA sequencing to the study of primary immunodeficiencies

(2014) Capucine Picard et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies

(2014) Jean-Laurent Casanova et al.   JOURNAL OF EXPERIMENTAL MEDICINE

DNASE1L3Mutations in Hypocomplementemic Urticarial Vasculitis Syndrome

(2013) Z. Birsin Özçakar et al.   ARTHRITIS AND RHEUMATISM

A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR– B cells

(2013) Bertrand Boisson et al.   JOURNAL OF CLINICAL INVESTIGATION

Deficiency of Innate and Acquired Immunity Caused by an IKBKB Mutation

(2013) Ulrich Pannicke et al.   NEW ENGLAND JOURNAL OF MEDICINE

SKIV2L Mutations Cause Syndromic Diarrhea, or Trichohepatoenteric Syndrome

(2012) Alexandre Fabre et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Kindler syndrome: Extension of FERMT1 mutational spectrum and natural history

(2011) Cristina Has et al.   HUMAN MUTATION

STAT5b Deficiency: An Unsuspected Cause of Growth Failure, Immunodeficiency, and Severe Pulmonary Disease

(2011) Kari Nadeau et al.   JOURNAL OF PEDIATRICS

Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus

(2011) Sulaiman M Al-Mayouf et al.   NATURE GENETICS

Whole-exome sequencing-based discovery of STIM1 deficiency in a child with fatal classic Kaposi sarcoma

(2010) Minji Byun et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Primary B Cell Immunodeficiencies: Comparisons and Contrasts

(2009) Mary Ellen Conley et al.   Annual Review of Immunology