Inborn errors of immunity: an expanding universe of disease and genetic architecture

Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population

(2023) David B. Beck et al.   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Lung Inflammation in STING-Associated Vasculopathy with Onset in Infancy (SAVI)

(2022) Clémence David et al.   Cells

A partial form of inherited human USP18 deficiency underlies infection and inflammation

(2022) Marta Martin-Fernandez et al.   JOURNAL OF EXPERIMENTAL MEDICINE

A loss-of-function IFNAR1 allele in Polynesia underlies severe viral diseases in homozygotes

(2022) Paul Bastard et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic

(2022) Christopher J.A. Duncan et al.   JOURNAL OF EXPERIMENTAL MEDICINE

DNA damage contributes to neurotoxic inflammation in Aicardi-Goutières syndrome astrocytes

(2022) Anna Maria Sole Giordano et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Best practices for the interpretation and reporting of clinical whole genome sequencing

(2022) Christina A. Austin-Tse et al.   npj Genomic Medicine

Clinical Exome Sequencing of 1000 Families with Complex Immune Phenotypes: Towards comprehensive genomic evaluations

(2022) Morgan N. Similuk et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

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

(2022) Stuart G. Tangye et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiency

(2022) Tessa Mollie Campbell et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Added Value of Reanalysis of Whole Exome- and Whole Genome Sequencing Data From Patients Suspected of Primary Immune Deficiency Using an Extended Gene Panel and Structural Variation Calling

(2022) Sara Bohnstedt Mørup et al.   Frontiers in Immunology

The 2022 Update of IUIS Phenotypical Classification for Human Inborn Errors of Immunity

(2022) Aziz Bousfiha et al.   JOURNAL OF CLINICAL IMMUNOLOGY

STING-Mediated Lung Inflammation and Beyond

(2021) Marie-Louise Frémond et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Genetic Mosaicism as a Cause of Inborn Errors of Immunity

(2021) Jahnavi Aluri et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Type I Interferonopathies in Children: An Overview

(2021) Debora M. d'Angelo et al.   Frontiers in Pediatrics

TACI deficiency — a complex system out of balance

(2021) Ulrich Salzer et al.   CURRENT OPINION IN IMMUNOLOGY

Inborn errors of STAT1 immunity

(2021) Yoko Mizoguchi et al.   CURRENT OPINION IN IMMUNOLOGY

The monogenic basis of human tuberculosis

(2020) Stephanie Boisson-Dupuis   HUMAN GENETICS

Incomplete penetrance in primary immunodeficiency: a skeleton in the closet

(2020) Conor Gruber et al.   HUMAN GENETICS

Conversations with Founders of the Field of Human Inborn Errors of Immunity

(2020) Rebecca H. Buckley   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

Lethal Infectious Diseases as Inborn Errors of Immunity: Toward a Synthesis of the Germ and Genetic Theories

(2020) Jean-Laurent Casanova et al.   Annual Review of Pathology-Mechanisms of Disease

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

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

Systemic Type I IFN Inflammation in Human ISG15 Deficiency Leads to Necrotizing Skin Lesions

(2020) Marta Martin-Fernandez et al.   Cell Reports

Complex Autoinflammatory Syndrome Unveils Fundamental Principles of JAK1 Kinase Transcriptional and Biochemical Function

(2020) Conor N. Gruber et al.   IMMUNITY

Low IgA Associated With Oropharyngeal Microbiota Changes and Lung Disease in Primary Antibody Deficiency

(2020) Roos-Marijn Berbers et al.   Frontiers in Immunology

Adult-Onset ANCA-Associated Vasculitis in SAVI: Extension of the Phenotypic Spectrum, Case Report and Review of the Literature

(2020) Frederik Staels et al.   Frontiers in Immunology

Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain-of-function

(2020) Jahnavi Aluri et al.   BLOOD

Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease

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

PTC-bearing mRNA elicits a genetic compensation response via Upf3a and COMPASS components

(2019) Zhipeng Ma et al.   NATURE

Genetic compensation triggered by mutant mRNA degradation

(2019) Mohamed A. El-Brolosy et al.   NATURE

Genomics of disease risk in globally diverse populations

(2019) Deepti Gurdasani et al.   NATURE REVIEWS GENETICS

Impaired CpG Demethylation in Common Variable Immunodeficiency Associates With B Cell Phenotype and Proliferation Rate

(2019) Lucía del Pino-Molina et al.   Frontiers in Immunology

Using the Data We Have: Improving Diversity in Genomic Research

(2019) Teri A. Manolio   AMERICAN JOURNAL OF HUMAN GENETICS

Bacterial but Not Fungal Gut Microbiota Alterations Are Associated With Common Variable Immunodeficiency (CVID) Phenotype

(2019) Kristýna Fiedorová et al.   Frontiers in Immunology

A New Patient with Inherited TYK2 Deficiency

(2019) Shokouh Azam Sarrafzadeh et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Regulatory genome variants in human susceptibility to infection

(2019) Amalio Telenti et al.   HUMAN GENETICS

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

(2018) Marianna Parlato et al.   EMBO Molecular Medicine

Microbial ecology perturbation in human IgA deficiency

(2018) Jehane Fadlallah et al.   Science Translational Medicine

Mendelian susceptibility to mycobacterial disease: 2014-2018 update

(2018) Jérémie Rosain et al.   IMMUNOLOGY AND CELL BIOLOGY

Unexpected Relevant Role of Gene Mosaicism in Primary Immunodeficiency Diseases

(2018) Anna Mensa-Vilaró et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

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

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

Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons

(2018) Alexandre Bolze et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Cryopyrin-associated Periodic Syndromes in Italian Patients: Evaluation of the Rate of Somatic NLRP3 Mosaicism and Phenotypic Characterization

(2017) Denise Lasigliè et al.   JOURNAL OF RHEUMATOLOGY

Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism—UK Single Center Experience

(2017) Dorota M. Rowczenio et al.   Frontiers in Immunology

Tyrosine kinase 2 is not limiting human antiviral type III interferon responses

(2016) Sebastian Fuchs et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

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

(2016) Qi Li et al.   GASTROENTEROLOGY

Mutation and Human Exceptionalism: Our Future Genetic Load

(2016) M. Lynch   GENETICS

Exome and genome sequencing for inborn errors of immunity

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

Ligase-4 Deficiency Causes Distinctive Immune Abnormalities in Asymptomatic Individuals

(2016) Kerstin Felgentreff et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome

(2016) Marije E.C. Meuwissen et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Altered gut microbiota profile in common variable immunodeficiency associates with levels of lipopolysaccharide and markers of systemic immune activation

(2016) S F Jørgensen et al.   Mucosal Immunology

Brief Report: Late-Onset Cryopyrin-Associated Periodic Syndrome Due to Myeloid-Restricted Somatic NLRP3 Mosaicism

(2016) Anna Mensa-Vilaro et al.   Arthritis & Rheumatology

Biased Allelic Expression in Human Primary Fibroblast Single Cells

(2015) Christelle Borel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Identification of a gain-of-function STAT3 mutation (p.Y640F) in lymphocytic variant hypereosinophilic syndrome

(2015) S. Walker et al.   BLOOD

Host Genetic Susceptibility to Enteric Viruses: A Systematic Review and Metaanalysis

(2015) Anita Kambhampati et al.   CLINICAL INFECTIOUS DISEASES

Late-Onset Combined Immunodeficiency with a Novel IL2RG Mutation and Probable Revertant Somatic Mosaicism

(2015) Yusuke Okuno et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome

(2015) Alexandra Y. Kreins et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Random monoallelic expression of autosomal genes: stochastic transcription and allele-level regulation

(2015) Björn Reinius et al.   NATURE REVIEWS GENETICS

Life-threatening influenza and impaired interferon amplification in human IRF7 deficiency

(2015) M. J. Ciancanelli et al.   SCIENCE

Monozygotic twins discordant for common variable immunodeficiency reveal impaired DNA demethylation during naïve-to-memory B-cell transition

(2015) Virginia C. Rodríguez-Cortez et al.   Nature Communications

Epidemiologic Association BetweenFUT2Secretor Status and Severe Rotavirus Gastroenteritis in Children in the United States

(2015) Daniel C. Payne et al.   JAMA Pediatrics

Both Lewis and Secretor Status Mediate Susceptibility to Rotavirus Infections in a Rotavirus Genotype–Dependent Manner

(2014) Johan Nordgren et al.   CLINICAL INFECTIOUS DISEASES

Mutations in Tetratricopeptide Repeat Domain 7A Result in a Severe Form of Very Early Onset Inflammatory Bowel Disease

(2014) Yaron Avitzur et al.   GASTROENTEROLOGY

Early-onset inflammatory bowel disease and common variable immunodeficiency–like disease caused by IL-21 deficiency

(2014) Elisabeth Salzer et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Defective removal of ribonucleotides from DNA promotes systemic autoimmunity

(2014) Claudia Günther et al.   JOURNAL OF CLINICAL INVESTIGATION

Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation

(2014) Xianqin Zhang et al.   NATURE

Activated STING in a Vascular and Pulmonary Syndrome

(2014) Yin Liu et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mendelian susceptibility to mycobacterial disease: Genetic, immunological, and clinical features of inborn errors of IFN-γ immunity

(2014) Jacinta Bustamante et al.   SEMINARS IN IMMUNOLOGY

Random or Stochastic Monoallelic Expressed Genes Are Enriched for Neurodevelopmental Disorder Candidate Genes

(2013) Aaron R. Jeffries et al.   PLoS One

Brief Report: Whole-Exome Sequencing Revealing SomaticNLRP3Mosaicism in a Patient With Chronic Infantile Neurologic, Cutaneous, Articular Syndrome

(2013) Ebun Omoyinmi et al.   Arthritis & Rheumatology

History of primary immunodeficiency diseases

(2012) Hans D. Ochs et al.   Current Opinion in Allergy and Clinical Immunology

Dominant-negative STAT1 SH2 domain mutations in unrelated patients with mendelian susceptibility to mycobacterial disease

(2012) Miyuki Tsumura et al.   HUMAN MUTATION

A Novel STAT1 Mutation Associated with Disseminated Mycobacterial Disease

(2012) Elizabeth P. Sampaio et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Impaired intrinsic immunity to HSV-1 in human iPSC-derived TLR3-deficient CNS cells

(2012) Fabien G. Lafaille et al.   NATURE

Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency

(2012) Bertrand Boisson et al.   NATURE IMMUNOLOGY

Cold Urticaria, Immunodeficiency, and Autoimmunity Related toPLCG2Deletions

(2012) Michael J. Ombrello et al.   NEW ENGLAND JOURNAL OF MEDICINE

Copy Number Variations Due to Large Genomic Deletion in X-Linked Chronic Granulomatous Disease

(2012) Takashi Arai et al.   PLoS One

Mycobacterial Disease and Impaired IFN-  Immunity in Humans with Inherited ISG15 Deficiency

(2012) D. Bogunovic et al.   SCIENCE

Stochastic Choice of Allelic Expression in Human Neural Stem Cells

(2012) Aaron R. Jeffries et al.   STEM CELLS

High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: Results of an international multicenter collaborative study

(2011) Naoko Tanaka et al.   ARTHRITIS AND RHEUMATISM

Severe impairment of IFN-  and IFN-  responses in cells of a patient with a novel STAT1 splicing mutation

(2011) D. Vairo et al.   BLOOD

Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome

(2011) A. P. Hsu et al.   BLOOD

FAS Haploinsufficiency Is a Common Disease Mechanism in the Human Autoimmune Lymphoproliferative Syndrome

(2011) H. S. Kuehn et al.   JOURNAL OF IMMUNOLOGY

A somatic NLRP3 mutation as a cause of a sporadic case of chronic infantile neurologic, cutaneous, articular syndrome/neonatal-onset multisystem inflammatory disease: Novel evidence of the role of low-level mosaicism as the pathophysiologic mechanism unde

(2010) Juan I. Aróstegui et al.   ARTHRITIS AND RHEUMATISM

Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome

(2010) K. C. Dowdell et al.   BLOOD

A novel form of human STAT1 deficiency impairing early but not late responses to interferons

(2010) X.-F. Kong et al.   BLOOD

Somatic mosaicism in the Wiskott–Aldrich syndrome: Molecular and functional characterization of genotypic revertants

(2010) Brian R. Davis et al.   CLINICAL IMMUNOLOGY

Determination of the deletion breakpoints in two patients with contiguous gene syndrome encompassing CYBB gene

(2010) Masafumi Yamada et al.   European Journal of Medical Genetics

Novel STAT1 Alleles in a Patient with Impaired Resistance to Mycobacteria

(2010) Ines Ackerl Kristensen et al.   JOURNAL OF CLINICAL IMMUNOLOGY

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

A partial form of recessive STAT1 deficiency in humans

(2009) Ariane Chapgier et al.   JOURNAL OF CLINICAL INVESTIGATION

Inflammatory Bowel Disease and Mutations Affecting the Interleukin-10 Receptor

(2009) Erik-Oliver Glocker et al.   NEW ENGLAND JOURNAL OF MEDICINE

Combined Immunodeficiency Associated withDOCK8Mutations

(2009) Qian Zhang et al.   NEW ENGLAND JOURNAL OF MEDICINE