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

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

Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies

(2014) Jean-Laurent Casanova et al.   JOURNAL OF EXPERIMENTAL MEDICINE

The Human IL-17F/IL-17A Heterodimeric Cytokine Signals through the IL-17RA/IL-17RC Receptor Complex

(2014) J. F. Wright et al.   JOURNAL OF IMMUNOLOGY

Identification of Functional Roles for Both IL-17RB and IL-17RA in Mediating IL-25-Induced Activities

(2014) E. A. Rickel 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

IL-17-mediated antifungal defense in the oral mucosa is independent of neutrophils

(2014) K Trautwein-Weidner et al.   Mucosal Immunology

The Genetic Theory of Infectious Diseases: A Brief History and Selected Illustrations

(2013) Jean-Laurent Casanova et al.   Annual Review of Genomics and Human Genetics

Clinical Features of Candidiasis in Patients With Inherited Interleukin 12 Receptor β1 Deficiency

(2013) Monia Ouederni et al.   CLINICAL INFECTIOUS DISEASES

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

Inherited IL-12p40 Deficiency

(2013) Carolina Prando et al.   MEDICINE

Deep Dermatophytosis and Inherited CARD9 Deficiency

(2013) Fanny Lanternier et al.   NEW ENGLAND JOURNAL OF MEDICINE

The human gene connectome as a map of short cuts for morbid allele discovery

(2013) Y. Itan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Mendelian traits causing susceptibility to mucocutaneous fungal infections in human subjects

(2012) Karin R. Engelhardt 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

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

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

Differential effects of interleukin-17 receptor signaling on innate and adaptive immunity during central nervous system bacterial infection

(2012) Debbie Vidlak et al.   Journal of Neuroinflammation

Herpes in STAT1 gain-of-function mutation

(2012) Beáta Tóth et al.   LANCET

Autosomal Dominant STAT3 Deficiency and Hyper-IgE Syndrome

(2012) Marie-Olivia Chandesris et al.   MEDICINE

Mucocutaneous candidiasis: the IL-17 pathway and implications for targeted immunotherapy

(2012) Anna R Huppler et al.   ARTHRITIS RESEARCH & THERAPY

Mucocutaneous candidiasis and autoimmunity against cytokines in APECED and thymoma patients: Clinical and pathogenetic implications

(2011) Kai Kisand et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

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

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

Insights into human antifungal immunity from primary immunodeficiencies

(2011) Donald C Vinh   LANCET INFECTIOUS DISEASES

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

The IL-17 pathway as a major therapeutic target in autoimmune diseases

(2010) Yan Hu et al.   Annals of the New York Academy of Sciences

Immunodeficiency secondary to anticytokine autoantibodies

(2010) Sarah K Browne et al.   Current Opinion in Allergy and Clinical Immunology

Inborn errors of mucocutaneous immunity to Candida albicans in humans: a role for IL-17 cytokines?

(2010) Anne Puel et al.   CURRENT OPINION IN IMMUNOLOGY

Autoimmune Polyendocrine Syndromes: Clues to Type 1 Diabetes Pathogenesis

(2010) Eystein S. Husebye et al.   IMMUNITY

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-17RC Is Required for Immune Signaling via an Extended SEF/IL-17R Signaling Domain in the Cytoplasmic Tail

(2010) A. W. Ho et al.   JOURNAL OF IMMUNOLOGY

IL-17RC Is Required for IL-17A- and IL-17F-Dependent Signaling and the Pathogenesis of Experimental Autoimmune Encephalomyelitis

(2010) Y. Hu et al.   JOURNAL OF IMMUNOLOGY

Revisiting Human IL-12Rβ1 Deficiency

(2010) Ludovic de Beaucoudrey et al.   MEDICINE

Differential Roles of Interleukin-17A and -17F in Host Defense against Mucoepithelial Bacterial Infection and Allergic Responses

(2009) Harumichi Ishigame et al.   IMMUNITY

Structural basis of receptor sharing by interleukin 17 cytokines

(2009) Lauren K Ely et al.   NATURE IMMUNOLOGY

A HomozygousCARD9Mutation in a Family with Susceptibility to Fungal Infections

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

IL-17RC: a partner in IL-17 signaling and beyond

(2009) Allen W. Ho et al.   Seminars in Immunopathology

Interleukin-17 in host defence against bacterial, mycobacterial and fungal pathogens

(2008) Meredith M. Curtis et al.   IMMUNOLOGY

Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced TH17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome

(2008) Ellen D. Renner et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

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

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

Mutations inSTAT3andIL12RB1impair the development of human IL-17–producing T cells

(2008) Ludovic de Beaucoudrey et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Impaired TH17 cell differentiation in subjects with autosomal dominant hyper-IgE syndrome

(2008) Joshua D. Milner et al.   NATURE