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

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

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

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

Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kind

(2015) Bertrand Boisson et al.   CURRENT OPINION IN 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

β-Defensin 1 Plays a Role in Acute Mucosal Defense againstCandida albicans

(2015) Jeffrey Tomalka et al.   JOURNAL OF IMMUNOLOGY

Novel Primary Immunodeficiency Candidate Genes Predicted by the Human Gene Connectome

(2015) Yuval Itan et al.   Frontiers in Immunology

The clinical and biological significance of STAT1 in esophageal squamous cell carcinoma

(2014) Ying Zhang et al.   BMC CANCER

Contribution of high-throughput DNA sequencing to the study of primary immunodeficiencies

(2014) Capucine Picard et al.   EUROPEAN JOURNAL OF IMMUNOLOGY

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

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

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

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy: known and novel aspects of the syndrome

(2012) Kai Kisand et al.   Annals of the New York Academy of Sciences

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

Unravelling fungal immunity through primary immune deficiencies

(2012) Desa Lilic   CURRENT OPINION IN MICROBIOLOGY

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

Autosomal Dominant STAT3 Deficiency and Hyper-IgE Syndrome

(2012) Marie-Olivia Chandesris et al.   MEDICINE

Hidden Killers: Human Fungal Infections

(2012) G. D. Brown et al.   Science Translational Medicine

Cutaneous Manifestations of DOCK8 Deficiency Syndrome

(2011) Emily Y. Chu   ARCHIVES OF DERMATOLOGY

IL-22 and TNF-α represent a key cytokine combination for epidermal integrity during infection withCandida albicans

(2011) Stefanie Eyerich 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

STAT1Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis

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

Commercial mouthwashes are more effective than azole antifungals against Candida albicans biofilms in vitro

(2011) Gordon Ramage et al.   ORAL SURGERY ORAL MEDICINE ORAL PATHOLOGY ORAL RADIOLOGY AND ENDODONTICS

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

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

Revisiting the association between candidal infection and carcinoma, particularly oral squamous cell carcinoma

(2011) Marina Mohd Bakri et al.   Journal of Oral Microbiology

Chronic mucocutaneous candidiasis and congenital susceptibility to Candida

(2010) Erik Glocker et al.   Current Opinion in Allergy and Clinical Immunology

Persistent Candida albicans colonization and molecular mechanisms of azole resistance in autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) patients

(2010) E. Siikala et al.   JOURNAL OF ANTIMICROBIAL CHEMOTHERAPY

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

STAT1-Activating Cytokines Limit Th17 Responses through Both T-bet-Dependent and -Independent Mechanisms

(2010) A. V. Villarino et al.   JOURNAL OF IMMUNOLOGY

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

Clinical manifestations and management of patients with autoimmune polyendocrine syndrome type I

(2009) E. S. Husebye et al.   JOURNAL OF INTERNAL MEDICINE

Human Dectin-1 Deficiency and Mucocutaneous Fungal Infections

(2009) Bart Ferwerda et al.   NEW ENGLAND JOURNAL OF MEDICINE

A HomozygousCARD9Mutation in a Family with Susceptibility to Fungal Infections

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

Activity of amphotericin B, anidulafungin, caspofungin, micafungin, posaconazole, and voriconazole against Candida albicans with decreased susceptibility to fluconazole from APECED patients on long-term azole treatment of chronic mucocutaneous candidiasis

(2008) Riina Rautemaa et al.   DIAGNOSTIC MICROBIOLOGY AND INFECTIOUS DISEASE

Immune defence mechanisms and immunoenhancement strategies in oropharyngeal candidiasis

(2008) Cristina Cunha Villar et al.   EXPERT REVIEWS IN MOLECULAR MEDICINE

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