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

IFN-α2a Therapy in Two Patients with Inborn Errors of TLR3 and IRF3 Infected with SARS-CoV-2

(2021) Romain Lévy et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Recent human genetic errors of innate immunity leading to increased susceptibility to infection

(2020) Leen Moens et al.   CURRENT OPINION IN IMMUNOLOGY

Germline biallelic PIK3CG mutations in a multifaceted immunodeficiency with immune dysregulation

(2020) Marini Thian et al.   HAEMATOLOGICA

Mendelian susceptibility to mycobacterial disease: recent discoveries

(2020) Jacinta Bustamante   HUMAN GENETICS

Herpes simplex virus encephalitis of childhood: inborn errors of central nervous system cell-intrinsic immunity

(2020) Shen-Ying Zhang   HUMAN GENETICS

Human genetics of life-threatening influenza pneumonitis

(2020) Qian Zhang   HUMAN GENETICS

Systemic Inflammation and Myelofibrosis in a Patient with Takenouchi-Kosaki Syndrome due to CDC42 Tyr64Cys Mutation

(2020) Giorgia Bucciol et al.   JOURNAL OF CLINICAL IMMUNOLOGY

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

(2020) Aziz Bousfiha et al.   JOURNAL OF CLINICAL IMMUNOLOGY

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

(2020) Stuart G. Tangye et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Homozygous STAT2 gain-of-function mutation by loss of USP18 activity in a patient with type I interferonopathy

(2020) Conor Gruber et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome

(2020) Yin-Huai Chen et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Fatal Cytomegalovirus Infection in an Adult with Inherited NOS2 Deficiency

(2020) Scott B. Drutman et al.   NEW ENGLAND JOURNAL OF MEDICINE

PAX1 is essential for development and function of the human thymus

(2020) Yasuhiro Yamazaki et al.   Science Immunology

Mutations of the gene FNIP1 associated with a syndromic autosomal recessive immunodeficiency with cardiomyopathy and pre‐excitation syndrome

(2020) Tim Niehues et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

Autoantibodies against cytokines: phenocopies of primary immunodeficiencies?

(2020) Chen-Lung Ku et al.   HUMAN GENETICS

APRIL-dependent lifelong plasmacyte maintenance and immunoglobulin production in humans

(2020) Tzu-Wen Yeh et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

A toxic palmitoylation of Cdc42 enhances NF-κB signaling and drives a severe autoinflammatory syndrome

(2020) Bahia Bekhouche et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Infantile Myelofibrosis and Myeloproliferation with CDC42 Dysfunction

(2020) Jeffrey M. Verboon et al.   JOURNAL OF CLINICAL IMMUNOLOGY

The Growing Spectrum of Human Diseases Caused by Inherited CDC42 Mutations

(2020) Helen C. Su et al.   JOURNAL OF CLINICAL IMMUNOLOGY

A New Patient with NOCARH Syndrome Due to CDC42 Defect

(2020) Tingyan He et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Inherited human IFN-γ deficiency underlies mycobacterial disease

(2020) Gaspard Kerner et al.   JOURNAL OF CLINICAL INVESTIGATION

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

(2020) Vivien Béziat et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

(2020) James E. D. Thaventhiran et al.   NATURE

A Novel CDC42 Mutation in an 11-Year Old Child Manifesting as Syndromic Immunodeficiency, Autoinflammation, Hemophagocytic Lymphohistiocytosis, and Malignancy: A Case Report

(2020) Aleksandra Szczawinska-Poplonyk et al.   Frontiers in Immunology

Germline TET2 Loss-Of-Function Causes Childhood Immunodeficiency And Lymphoma

(2020) Jarmila Stremenova Spegarova et al.   BLOOD

NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammation

(2020) Carla Noemi Castro et al.   JOURNAL OF EXPERIMENTAL MEDICINE

HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease

(2020) Sarah A. Cook et al.   SCIENCE

Human inborn errors of immunity: An expanding universe

(2020) Luigi D. Notarangelo et al.   Science Immunology

The cytoskeletal regulator HEM1 governs B cell development and prevents autoimmunity

(2020) Elisabeth Salzer et al.   Science Immunology

Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in Folliculin Interacting Protein 1 deficiency

(2020) Francesco Saettini et al.   BLOOD

Immune dysregulation and multisystem inflammatory syndrome in children (MIS-C) in individuals with haploinsufficiency of SOCS1

(2020) Pui Y. Lee et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Human NK cell deficiency as a result of biallelic mutations in MCM10

(2020) Emily M. Mace et al.   JOURNAL OF CLINICAL INVESTIGATION

Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

(2020) Qian Zhang et al.   SCIENCE

Autoantibodies against type I IFNs in patients with life-threatening COVID-19

(2020) Paul Bastard et al.   SCIENCE

Early-onset autoimmunity associated with SOCS1 haploinsufficiency

(2020) Jérôme Hadjadj et al.   Nature Communications

Human T-bet Governs Innate and Innate-like Adaptive IFN-γ Immunity against Mycobacteria

(2020) Rui Yang et al.   CELL

Inherited SLP76 deficiency in humans causes severe combined immunodeficiency, neutrophil and platelet defects

(2020) Atar Lev et al.   JOURNAL OF EXPERIMENTAL MEDICINE

cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing

(2020) Carolina Uggenti et al.   NATURE GENETICS

Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease

(2020) David B. Beck et al.   NEW ENGLAND JOURNAL OF MEDICINE

Defects in LC3B2 and ATG4A underlie HSV2 meningitis and reveal a critical role for autophagy in antiviral defense in humans

(2020) Alon Schneider Hait et al.   Science Immunology

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

(2019) Dorota Monies et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Severe autoinflammation in 4 patients with C-terminal variants in cell division control protein 42 homolog (CDC42) successfully treated with IL-1β inhibition

(2019) Yael Gernez et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Gain-of-function CEBPE mutation causes non-canonical autoinflammatory inflammasomopathy

(2019) Helka Göös et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

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

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

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

A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function

(2019) Michael T. Lam et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Human PI3Kγ deficiency and its microbiota-dependent mouse model reveal immunodeficiency and tissue immunopathology

(2019) Andrew J. Takeda et al.   Nature Communications

Chronic mucocutaneous candidiasis and connective tissue disorder in humans with impaired JNK1-dependent responses to IL-17A/F and TGF-β

(2019) Juan Li et al.   Science Immunology

Mutations that prevent caspase cleavage of RIPK1 cause autoinflammatory disease

(2019) Najoua Lalaoui et al.   NATURE

A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1

(2019) Panfeng Tao et al.   NATURE

Human SNORA31 variations impair cortical neuron-intrinsic immunity to HSV-1 and underlie herpes simplex encephalitis

(2019) Fabien G. Lafaille et al.   NATURE MEDICINE

Severe type I interferonopathy and unrestrained interferon signaling due to a homozygous germline mutation in STAT2

(2019) Christopher J. A. Duncan et al.   Science Immunology

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

(2018) Delphine Cuchet-Lourenço et al.   SCIENCE

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 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 novel kindred with inherited STAT2 deficiency and severe viral illness

(2017) Leen Moens et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Exome and genome sequencing for inborn errors of immunity

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

Mutation ofFnip1is associated with B-cell deficiency, cardiomyopathy, and elevated AMPK activity

(2016) Owen M. Siggs et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Human IL-21 and IL-21R deficiencies

(2014) Daniel Kotlarz et al.   CURRENT OPINION IN PEDIATRICS

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

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

A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome

(2013) Esther Pohl et al.   HUMAN GENETICS

STAT2 deficiency and susceptibility to viral illness in humans

(2013) S. Hambleton et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Disruption of Fnip1 Reveals a Metabolic Checkpoint Controlling B Lymphocyte Development

(2012) Heon Park et al.   IMMUNITY

Inborn Errors of Human JAKs and STATs

(2012) Jean-Laurent Casanova et al.   IMMUNITY