Interferon signature in patients with STAT1 gain-of-function mutation is epigenetically determined

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

Aortic Calcification in a Patient with a Gain-of-Function STAT1 Mutation

(2018) Anna E. Smyth et al.   JOURNAL OF 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

The Potential Role of Trained Immunity in Autoimmune and Autoinflammatory Disorders

(2018) Rob J. W. Arts et al.   Frontiers in 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

Detection of interferon alpha protein reveals differential levels and cellular sources in disease

(2017) Mathieu P. Rodero et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Genome-wide Analysis of STAT3-Mediated Transcription during Early Human Th17 Cell Differentiation

(2017) Subhash K. Tripathi et al.   Cell Reports

A Novel Heterozygous Mutation in the STAT1 SH2 Domain Causes Chronic Mucocutaneous Candidiasis, Atypically Diverse Infections, Autoimmunity, and Impaired Cytokine Regulation

(2017) Kornvalee Meesilpavikkai et al.   Frontiers in 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

AIRE-Deficient Patients Harbor Unique High-Affinity Disease-Ameliorating Autoantibodies

(2016) Steffen Meyer et al.   CELL

Chronic mucocutaneous candidiasis: characterization of a family with STAT-1 gain-of-function and development of anex-vivoassay for Th17 deficiency of diagnostic utility

(2016) F. Dhalla et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

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

(2016) Rotraut Mössner et al.   CLINICAL INFECTIOUS DISEASES

Innate immune memory: Implications for host responses to damage-associated molecular patterns

(2016) Tania O. Crișan et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

Type I interferon–mediated monogenic autoinflammation: The type I interferonopathies, a conceptual overview

(2016) Mathieu P. Rodero et al.   JOURNAL OF EXPERIMENTAL MEDICINE

g:Profiler—a web server for functional interpretation of gene lists (2016 update)

(2016) Jüri Reimand et al.   NUCLEIC ACIDS RESEARCH

Trained immunity: A program of innate immune memory in health and disease

(2016) M. G. Netea et al.   SCIENCE

ChIPseeker: an R/Bioconductor package for ChIP peak annotation, comparison and visualization

(2015) Guangchuang Yu et al.   BIOINFORMATICS

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

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

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

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

A novel gain-of-function STAT1 mutation resulting in basal phosphorylation of STAT1 and increased distal IFN-γ-mediated responses in chronic mucocutaneous candidiasis

(2015) Laura Martinez-Martinez et al.   MOLECULAR IMMUNOLOGY

Integrative analysis of 111 reference human epigenomes

(2015) Anshul Kundaje et al.   NATURE

Opposing roles of STAT1 and STAT3 in IL-21 function in CD4+T cells

(2015) Chi-Keung Wan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Innate Immune Activity Is Detected Prior to Seroconversion in Children With HLA-Conferred Type 1 Diabetes Susceptibility

(2014) H. Kallionpaa et al.   DIABETES

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

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy and other primary immunodeficiency diseases help to resolve the nature of protective immunity against chronic mucocutaneous candidiasis

(2013) Kai Kisand et al.   CURRENT OPINION IN PEDIATRICS

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

Naive and memory human B cells have distinct requirements for STAT3 activation to differentiate into antibody-secreting plasma cells

(2013) Elissa K. Deenick et al.   JOURNAL OF EXPERIMENTAL MEDICINE

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

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

Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study

(2013) Gillian I Rice et al.   LANCET NEUROLOGY

The UCSC Genome Browser database: 2014 update

(2013) Donna Karolchik et al.   NUCLEIC ACIDS RESEARCH

STATs Shape the Active Enhancer Landscape of T Cell Populations

(2012) Golnaz Vahedi et al.   CELL

Differential oestrogen receptor binding is associated with clinical outcome in breast cancer

(2012) Caryn S. Ross-Innes et al.   NATURE

Fast gapped-read alignment with Bowtie 2

(2012) Ben Langmead et al.   NATURE METHODS

Fast Computation and Applications of Genome Mappability

(2012) Thomas Derrien et al.   PLoS One

An Interleukin-21- Interleukin-10-STAT3 Pathway Is Critical for Functional Maturation of Memory CD8+ T Cells

(2011) Weiguo Cui et al.   IMMUNITY

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

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

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

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

Discrete Roles of STAT4 and STAT6 Transcription Factors in Tuning Epigenetic Modifications and Transcription during T Helper Cell Differentiation

(2010) Lai Wei et al.   IMMUNITY

GREAT improves functional interpretation of cis-regulatory regions

(2010) Cory Y McLean et al.   NATURE BIOTECHNOLOGY

Hepatitis C and interferon induced thyroiditis

(2009) Yaron Tomer   JOURNAL OF AUTOIMMUNITY