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

Human inborn errors of immunity underlying superficial or invasive candidiasis

(2020) Anne Puel   HUMAN GENETICS

Human STAT1 gain-of-function iPSC line from a patient suffering from chronic mucocutaneous candidiasis

(2020) Kathrin Haake et al.   Stem Cell Research

A novel TRAF3IP2 variant causing familial scarring alopecia with mixed features of discoid lupus erythematosus and folliculitis decalvans

(2020) Georges Nemer et al.   CLINICAL GENETICS

Ruxolitinib treatment of a patient with steroid-dependent severe autoimmunity due to STAT1 gain-of-function mutation

(2020) Kunihiko Moriya et al.   INTERNATIONAL JOURNAL OF HEMATOLOGY

Ruxolitinib Response in an Infant with Very-Early-Onset Inflammatory Bowel Disease and Gain-of-Function STAT1 Mutation

(2020) Karen P. Acker et al.   JOURNAL OF PEDIATRIC GASTROENTEROLOGY AND NUTRITION

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

(2019) Epp Kaleviste et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

Gain-of-Function STAT1 Mutation With Familial Lymphadenopathy and Hodgkin Lymphoma

(2019) Sarah E. Henrickson et al.   Frontiers in Pediatrics

Chronic Mucocutaneous Candidiasis in an Adolescent Boy Due to a Novel Mutation in TRAF3IP2

(2019) Sagar Bhattad et al.   JOURNAL OF CLINICAL IMMUNOLOGY

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

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

Whole exome sequencing in childhood-onset lupus frequently detects single gene etiologies

(2019) Irit Tirosh et al.   Pediatric Rheumatology

Impaired STAT3-Dependent Upregulation of IL2Rα in B Cells of a Patient With a STAT1 Gain-of-Function Mutation

(2019) Menno C. van Zelm et al.   Frontiers in Immunology

STAT1 Gain-of-Function Mutations Cause High Total STAT1 Levels With Normal Dephosphorylation

(2019) Ofer Zimmerman et al.   Frontiers in Immunology

Interleukin-17 in Antifungal Immunity

(2019) Florian Sparber et al.   Pathogens

The activating p.Ser466Arg change in STAT1 causes a peculiar phenotype with features of interferonopathies

(2019) Emilia Stellacci et al.   CLINICAL GENETICS

Application of Flow Cytometry in the Diagnostics Pipeline of Primary Immunodeficiencies Underlying Disseminated Talaromyces marneffei Infection in HIV-Negative Children

(2019) Pamela P. Lee et al.   Frontiers in Immunology

Expanding the Clinical and Genetic Spectra of Primary Immunodeficiency-Related Disorders With Clinical Exome Sequencing: Expected and Unexpected Findings

(2019) Francesc Rudilla et al.   Frontiers in Immunology

Candidose cutanéo-muqueuse chronique avec mutation gain-de-fonction du gène STAT1 associée à des infections herpétiques et à mycobactérie

(2019) B. Baghad et al.   ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE

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

(2019) Xuemei Chen et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Identification of a distinct subset of disease-associated gain-of-function missense mutations in the STAT1 coiled-coil domain as system mutants

(2019) Jana Petersen et al.   MOLECULAR IMMUNOLOGY

STAT1 gain‐of‐function and chronic demodicosis

(2019) Vered Molho‐Pessach et al.   PEDIATRIC DERMATOLOGY

Human gain-of-function STAT1 mutation disturbs IL-17 immunity in mice

(2019) Moe Tamaura et al.   INTERNATIONAL IMMUNOLOGY

Germline gain-of-function mutation of STAT1 rescued by somatic mosaicism in immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like disorder

(2019) Jeong Seok Lee et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

PopViz: a webserver for visualizing minor allele frequencies and damage prediction scores of human genetic variations

(2018) Peng Zhang et al.   BIOINFORMATICS

Baricitinib treatment in a patient with a gain-of-function mutation in signal transducer and activator of transcription 1 ( STAT1 )

(2018) Kornvalee Meesilpavikkai et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Novel signal transducer and activator of transcription 1 mutation disrupts small ubiquitin-related modifier conjugation causing gain of function

(2018) Elizabeth P. Sampaio 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

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

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

Chronic mucocutaneous candidiasis due to gain-of-function mutation in STAT1

(2018) Barbara Carey et al.   ORAL DISEASES

Human genetics of infectious diseases: Unique insights into immunological redundancy

(2018) Jean-Laurent Casanova et al.   SEMINARS IN IMMUNOLOGY

Mendelian susceptibility to mycobacterial disease: 2014-2018 update

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

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

Double Trouble? CMC with a Mutation in both AIRE and STAT1

(2018) Huda Al Dhanhani et al.   JOURNAL OF CLINICAL IMMUNOLOGY

A Brief Historical Perspective on the Pathological Consequences of Excessive Type I Interferon Exposure In vivo

(2018) Yanick J. Crow et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Bronchiectasis and Recurrent Respiratory Infections with a De Novo STAT1 Gain-of-Function Variant: First Case in Korea

(2018) Hee Jae Huh et al.   YONSEI MEDICAL JOURNAL

Two different STAT1 gain-of-function mutations lead to diverse IFN-γ-mediated gene expression

(2018) Adi Ovadia et al.   npj Genomic Medicine

STAT1 gain-of-function compromises skin host defense in the context of interferon-γ signaling

(2018) Hanna Niehues et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

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

Novel STAT1 Gain-of-Function Mutation Presenting as Combined Immunodeficiency

(2018) Stella P. Hartono et al.   JOURNAL OF CLINICAL IMMUNOLOGY

Hematopoietic Stem Cell Transplantation in Patients with Heterozygous STAT1 Gain-of-Function Mutation

(2018) Ayca Kiykim et al.   JOURNAL OF CLINICAL IMMUNOLOGY

An Adult Fatal Case with a STAT1 Gain-of-function Mutation Associated with Multiple Autoimmune Diseases

(2018) Keisuke Maeshima et al.   JOURNAL OF RHEUMATOLOGY

Impaired natural killer cell functions in patients with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations

(2017) Giovanna Tabellini 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

Molecular mechanism and structural basis of gain-of-function of STAT1 caused by pathogenic R274Q mutation

(2017) Ryoji Fujiki et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Rosacea and demodicidosis associated with gain-of-function mutation in STAT1

(2017) J. Second et al.   JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY

Autosomal dominant gain of function STAT1 mutation and severe bronchiectasis

(2017) Oded Breuer et al.   RESPIRATORY MEDICINE

Disseminated Tuberculosis and Chronic Mucocutaneous Candidiasis in a Patient with a Gain-of-Function Mutation in Signal Transduction and Activator of Transcription 1

(2017) Sigifredo Pedraza-Sánchez et al.   Frontiers in Immunology

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

Autoimmune Regulator Deficiency Results in a Decrease in STAT1 Levels in Human Monocytes

(2017) Ofer Zimmerman et al.   Frontiers in Immunology

A 3-Year-Old Girl with Recurrent Infections and Autoimmunity due to a STAT1 Gain-of-Function Mutation: The Expanding Clinical Presentation of Primary Immunodeficiencies

(2017) Juan Carlos Aldave Becerra et al.   Frontiers in Pediatrics

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

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

Clinical heterogeneity of dominant chronic mucocutaneous candidiasis disease: presenting as treatment-resistant candidiasis and chronic lung disease

(2016) Laura Dotta et al.   CLINICAL IMMUNOLOGY

Progressive Multifocal Leukoencephalopathy in Primary Immune Deficiencies: Stat1 Gain of Function and Review of the Literature

(2016) Christa S. Zerbe et al.   CLINICAL INFECTIOUS DISEASES

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

(2016) Rotraut Mössner et al.   CLINICAL INFECTIOUS DISEASES

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

New and recurrentSTAT1mutations in seven Chinese patients with chronic mucocutaneous candidiasis

(2016) Xiaowen Wang et al.   INTERNATIONAL JOURNAL OF DERMATOLOGY

Bone marrow transplantation for monoallelic signal transducer and activator of transcription 1 deficiency

(2016) Eyal Grunebaum et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Extrapulmonary tuberculosis mimicking Mendelian susceptibility to mycobacterial disease in a patient with signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation

(2016) Shinsuke Kataoka et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Chronic mucocutaneous candidiasis associated with an SH2 domain gain-of-function mutation that enhances STAT1 phosphorylation

(2016) Ali Sobh et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

IL-17 receptor A and adenosine deaminase 2 deficiency in siblings with recurrent infections and chronic inflammation

(2016) Florence Fellmann et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

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

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

Unique and shared signaling pathways cooperate to regulate the differentiation of human CD4+T cells into distinct effector subsets

(2016) Cindy S. Ma et al.   JOURNAL OF EXPERIMENTAL MEDICINE

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

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

A human inborn error connects the α's

(2016) Isabelle Meyts et al.   NATURE IMMUNOLOGY

Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency

(2016) Romain Lévy et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Oesophageal candidiasis and squamous cell cancer in patients with gain-of-function STAT1 gene mutation

(2016) Sara Koo et al.   United European Gastroenterology Journal

DisseminatedTalaromyces marneffeiandMycobacterium abscessusin a Patient With Anti-Interferon-γ Autoantibodies

(2016) Nattapol Pruetpongpun et al.   Open Forum Infectious Diseases

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

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

Immunotherapy with G-CSF in patients with chronic mucocutaneous candidiasis

(2015) Frank L. van de Veerdonk et al.   IMMUNOLOGY LETTERS

Recurrent inflammatory aortic aneurysms in chronic mucocutaneous candidiasis with a gain-of-function STAT1 mutation

(2015) Muneyoshi Tanimura et al.   INTERNATIONAL JOURNAL OF CARDIOLOGY

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

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

Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis

(2015) Yun Ling et al.   JOURNAL OF EXPERIMENTAL MEDICINE

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

Novel STAT1 gain-of-function mutation and suppurative infections

(2015) Giuliana Giardino et al.   PEDIATRIC ALLERGY AND IMMUNOLOGY

Impairment of immunity to Candida and Mycobacterium in humans with bi-allelic RORC mutations

(2015) S. Okada et al.   SCIENCE

Gain-of-function mutations in signal transducer and activator of transcription 1 (STAT1): Chronic mucocutaneous candidiasis accompanied by enamel defects and delayed dental shedding

(2014) Glynis Frans et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation–related primary immunodeficiency is associated with disseminated mucormycosis

(2014) Nilay Kumar et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Orf Infection in a Patient with Stat1 Gain-of-Function

(2014) Sara Sebnem Kilic et al.   JOURNAL OF CLINICAL 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

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

Primary immunodeficiencies underlying fungal infections

(2013) Fanny Lanternier et al.   CURRENT OPINION IN PEDIATRICS

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

(2013) O. Hirata et al.   HAEMATOLOGICA

An ACT1 Mutation Selectively Abolishes Interleukin-17 Responses in Humans with Chronic Mucocutaneous Candidiasis

(2013) Bertrand Boisson et al.   IMMUNITY

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

Gain-of-function STAT1 mutations are associated with PD-L1 overexpression and a defect in B-cell survival

(2013) Neil Romberg et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

RETRACTED: Continuous G-CSF therapy for isolated chronic mucocutaneous candidiasis: Complete clinical remission with restoration of IL-17 secretion

(2013) Gizi Wildbaum 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

A 1-Year-Old Girl with a Gain-of-Function STAT1 Mutation Treated with Hematopoietic Stem Cell Transplantation

(2013) Juan Carlos Aldave et al.   JOURNAL OF CLINICAL IMMUNOLOGY

IL-17 T Cells’ Defective Differentiation In Vitro Despite Normal Range Ex Vivo in Chronic Mucocutaneous Candidiasis Due to STAT1 Mutation

(2013) Najla Mekki et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

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

Autosomal Dominant Cases of Chronic Mucocutaneous Candidiasis Segregates with Mutations of Signal Transducer and Activator of Transcription 1, But Not of Toll-Like Receptor 3

(2013) Maysoun Al Rushood et al.   JOURNAL OF PEDIATRICS

Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis

(2012) Anne Puel et al.   Current Opinion in Allergy and Clinical Immunology

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

Immunity to infection in IL-17-deficient mice and humans

(2012) Sophie Cypowyj et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

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

(2012) Miyuki Tsumura et al.   HUMAN MUTATION

Inborn Errors of Human JAKs and STATs

(2012) Jean-Laurent Casanova et al.   IMMUNITY

Exome sequencing reveals a signal transducer and activator of transcription 1 (STAT1) mutation in a child with recalcitrant cutaneous fusariosis

(2012) Xiaowen Wang et al.   JOURNAL OF ALLERGY AND CLINICAL 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

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

Herpes in STAT1 gain-of-function mutation

(2012) Beáta Tóth et al.   LANCET

Adult-Onset Immunodeficiency in Thailand and Taiwan

(2012) Sarah K. Browne et al.   NEW ENGLAND JOURNAL OF MEDICINE

Type I interferonopathies: a novel set of inborn errors of immunity

(2011) Yanick J. Crow   Annals of the New York Academy of Sciences

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

(2011) D. Vairo et al.   BLOOD

Frequent and Widespread Vascular Abnormalities in Human Signal Transducer and Activator of Transcription 3 Deficiency

(2011) Marie-Olivia Chandesris et al.   Circulation-Cardiovascular Genetics

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

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

Interleukin-27-Mediated Suppression of Human Th17 Cells Is Associated with Activation of STAT1 and Suppressor of Cytokine Signaling Protein 1

(2011) Hong Liu et al.   JOURNAL OF INTERFERON AND CYTOKINE RESEARCH

Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature

(2011) Tracy A Briggs et al.   NATURE GENETICS

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

Inborn errors of anti-viral interferon immunity in humans

(2011) Vanessa Sancho-Shimizu et al.   Current Opinion in Virology

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

B cell–intrinsic signaling through IL-21 receptor and STAT3 is required for establishing long-lived antibody responses in humans

(2010) Danielle T. Avery et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I

(2010) Anne Puel et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Chronic mucocutaneous candidiasis in APECED or thymoma patients correlates with autoimmunity to Th17-associated cytokines

(2010) Kai Kisand et al.   JOURNAL OF EXPERIMENTAL MEDICINE

IL-23 and IL-17A, but Not IL-12 and IL-22, Are Required for Optimal Skin Host Defense against Candida albicans

(2010) S. Kagami et al.   JOURNAL OF IMMUNOLOGY

Refractory Disseminated Coccidioidomycosis and Mycobacteriosis in Interferon‐γ Receptor 1 Deficiency

(2009) Donald C. Vinh et al.   CLINICAL INFECTIOUS DISEASES

A partial form of recessive STAT1 deficiency in humans

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

Th17 cells and IL-17 receptor signaling are essential for mucosal host defense against oral candidiasis

(2009) Heather R. Conti et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Deficiency of Th17 cells in hyper IgE syndrome due to mutations inSTAT3

(2008) Cindy S. Ma et al.   JOURNAL OF EXPERIMENTAL MEDICINE