Inborn errors of STAT1 immunity

Mendelian susceptibility to mycobacterial disease: recent discoveries

(2020) Jacinta Bustamante   HUMAN GENETICS

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

Inherited human IFN-γ deficiency underlies mycobacterial disease

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

Recurrent, Severe Aphthous Stomatitis and Mucosal Ulcers as Primary Manifestations of a Novel STAT1 Gain-of-Function Mutation

(2020) Melinda Erdős et al.   Frontiers in Immunology

A Novel Complete Autosomal-Recessive STAT1 LOF Variant Causes Immunodeficiency with Hemophagocytic Lymphohistiocytosis–Like Hyperinflammation

(2020) Daniel F.R. Boehmer et al.   Journal of Allergy and Clinical Immunology-In Practice

Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy

(2020) Satoshi Okada et al.   JOURNAL OF CLINICAL IMMUNOLOGY

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

(2020) Rui Yang et al.   CELL

Current Status of the Management of Mendelian Susceptibility to Mycobacterial Disease in Mainland China

(2019) Wenjing Ying et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Ruxolitinib partially reverses functional natural killer cell deficiency in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations

(2018) Alexander Vargas-Hernández et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Utility of Ruxolitinib in a Child with Chronic Mucocutaneous Candidiasis Caused by a Novel STAT1 Gain-of-Function Mutation

(2018) Markéta Bloomfield et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Jakinibs for the treatment of immune dysregulation in patients with gain-of-function signal transducer and activator of transcription 1 (STAT1) or STAT3 mutations

(2018) Lisa R. Forbes et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants

(2017) Reiko Kagawa et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

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

(2017) Katja G. Weinacht et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Risks of Ruxolitinib in STAT1 Gain-of-Function-Associated Severe Fungal Disease

(2017) Ofer Zimmerman et al.   Open Forum Infectious Diseases

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

(2016) J. Toubiana et al.   BLOOD

Ruxolitinib Induces Interleukin 17 and Ameliorates Chronic Mucocutaneous Candidiasis Caused by STAT1 Gain-of-Function Mutation

(2016) Rotraut Mössner et al.   CLINICAL INFECTIOUS DISEASES

Use of ruxolitinib to successfully treat chronic mucocutaneous candidiasis caused by gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation

(2015) Eleanor Higgins et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis

(2013) O. Hirata et al.   HAEMATOLOGICA

Inborn errors of human STAT1: allelic heterogeneity governs the diversity of immunological and infectious phenotypes

(2012) Stephanie Boisson-Dupuis et al.   CURRENT OPINION IN 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

Chronic Mucocutaneous Candidiasis Caused by a Gain-of-Function Mutation in the STAT1 DNA-Binding Domain

(2012) S. Takezaki et al.   JOURNAL OF IMMUNOLOGY

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

(2011) D. Vairo et al.   BLOOD

Gain-of-function humanSTAT1mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

(2011) Luyan Liu et al.   JOURNAL OF EXPERIMENTAL MEDICINE

STAT1Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis

(2011) Frank L. van de Veerdonk et al.   NEW ENGLAND JOURNAL OF MEDICINE

STAT1 Hyperphosphorylation and Defective IL12R/IL23R Signaling Underlie Defective Immunity in Autosomal Dominant Chronic Mucocutaneous Candidiasis

(2011) Sanne P. Smeekens et al.   PLoS One

Chronic Mucocutaneous Candidiasis in Humans with Inborn Errors of Interleukin-17 Immunity

(2011) A. Puel et al.   SCIENCE

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

(2010) X.-F. Kong et al.   BLOOD

Novel STAT1 Alleles in a Patient with Impaired Resistance to Mycobacteria

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

A partial form of recessive STAT1 deficiency in humans

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