Molecular and Phenotypic Characterization of Nine Patients with STAT1 GOF Mutations in China

Reference values for peripheral blood lymphocyte subsets of healthy children in China

(2018) Yuan Ding et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Exaggerated follicular helper T-cell responses in patients with LRBA deficiency caused by failure of CTLA4-mediated regulation

(2018) Fayhan J. Alroqi et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Hematopoietic stem cell transplantation in patients with gain-of-function signal transducer and activator of transcription 1 mutations

(2018) Jennifer W. Leiding et al.   JOURNAL OF ALLERGY AND 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

STAT1 Gain-of-Function and Dominant Negative STAT3 Mutations Impair IL-17 and IL-22 Immunity Associated with CMC

(2018) Julia Hiller et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Increased STAT1 Amounts Correlate with the Phospho-STAT1 Level in STAT1 Gain-of-function Defects

(2018) Andrea R. Bernasconi et al.   JOURNAL OF 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

PD-L1 up-regulation restrains Th17 cell differentiation in STAT3 loss- and STAT1 gain-of-function patients

(2017) Yuan Zhang et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Cellular and Molecular Defects Underlying Invasive Fungal Infections—Revelations from Endemic Mycoses

(2017) Pamela P. Lee et al.   Frontiers in Immunology

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

(2016) J. Toubiana et al.   BLOOD

Common variable immunodeficiency, impaired neurological development and reduced numbers of T regulatory cells in a 10-year-old boy with a STAT1 gain-of-function mutation

(2016) Robin Kobbe et al.   GENE

Severe Early-Onset Combined Immunodeficiency due to Heterozygous Gain-of-Function Mutations in STAT1

(2016) Safa Baris et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Treatment options for chronic mucocutaneous candidiasis

(2016) Frank L. van de Veerdonk et al.   JOURNAL OF INFECTION

Gain-of-function STAT1 mutations impair STAT3 activity in patients with chronic mucocutaneous candidiasis (CMC)

(2015) Jie Zheng et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

Distal regulatory element of the STAT1 gene potentially mediates positive feedback control of STAT1 expression

(2015) Katsutoshi Yuasa et al.   GENES TO CELLS

Monogenic mutations differentially affect the quantity and quality of T follicular helper cells in patients with human primary immunodeficiencies

(2015) Cindy S. Ma et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1

(2015) Mark Depner et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Human TCR  / + CD4-CD8- Double-Negative T Cells in Patients with Autoimmune Lymphoproliferative Syndrome Express Restricted V  TCR Diversity and Are Clonally Related to CD8+ T Cells

(2014) A. Bristeau-Leprince et al.   JOURNAL OF IMMUNOLOGY

Two Novel Gain-of-Function Mutations ofSTAT1Responsible for Chronic Mucocutaneous Candidiasis Disease: Impaired Production of IL-17A and IL-22, and the Presence of Anti–IL-17F Autoantibody

(2014) Yasuhiro Yamazaki et al.   JOURNAL OF IMMUNOLOGY

Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation–polyendocrinopathy–enteropathy–X-linked–like syndrome

(2013) Gulbu Uzel et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis

(2013) Elizabeth P. Sampaio et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Fatal combined immunodeficiency associated with heterozygous mutation in STAT1

(2013) Nigel Sharfe et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Penicillium marneffei infection and impaired IFN-γ immunity in humans with autosomal-dominant gain-of-phosphorylation STAT1 mutations

(2013) Pamela P.W. Lee et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis

(2013) Y. Mizoguchi et al.   JOURNAL OF LEUKOCYTE BIOLOGY

New and recurrent gain-of-functionSTAT1mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe

(2013) Beáta Soltész et al.   JOURNAL OF MEDICAL GENETICS

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

Autosomal-Dominant Chronic Mucocutaneous Candidiasis with STAT1-Mutation can be Complicated with Chronic Active Hepatitis and Hypothyroidism

(2012) Tomohiro Hori et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Follicular helper T cells in immunity and systemic autoimmunity

(2012) Joseph E. Craft   Nature Reviews Rheumatology

A regulatory effect of IL-21 on T follicular helper-like cell and B cell in rheumatoid arthritis

(2012) Rui Liu et al.   ARTHRITIS RESEARCH & THERAPY

Increased Frequency of Follicular Helper T Cells in Patients with Autoimmune Thyroid Disease

(2011) Chenlu Zhu et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

Expansion of circulating T cells resembling follicular helper T cells is a fixed phenotype that identifies a subset of severe systemic lupus erythematosus

(2009) Nicholas Simpson et al.   ARTHRITIS AND RHEUMATISM

Functional Delineation and Differentiation Dynamics of Human CD4+ T Cells Expressing the FoxP3 Transcription Factor

(2009) Makoto Miyara et al.   IMMUNITY

Analysis of T cell receptor Vβ diversity in peripheral CD4+and CD8+T lymphocytes in patients with autoimmune thyroid diseases

(2008) M. Okajima et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

Hashimoto’s thyroiditis: TGAb, TPOAb, TRAb and recovery from hypothyroidism

(2008) Nobuyuki Takasu et al.   Expert Review of Clinical Immunology