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

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

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

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

Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery

(2016) Eric M Scott et al.   NATURE GENETICS

The mutation significance cutoff: gene-level thresholds for variant predictions

(2016) Yuval Itan et al.   NATURE METHODS

Reply to Saliou et al

(2015) Hajime Kanamori et al.   CLINICAL 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

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

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

A Young Adult Male with Chronic Mucocutaneous Candidiasis (CMC) with Signal Transduction and Activator of Transcription 1 (STAT 1) Mutation and Progressive Multifocal Leukoencephalopathy (PML)

(2015) Kathryn Marie Ruda Wessell et al.   JOURNAL OF ALLERGY AND CLINICAL 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

Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy

(2015) Kai Kisand et al.   JOURNAL OF 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

Signaling through IL-17C/IL-17RE Is Dispensable for Immunity to Systemic, Oral and Cutaneous Candidiasis

(2015) Heather R. Conti et al.   PLoS One

Human genetic basis of interindividual variability in the course of infection

(2015) Jean-Laurent Casanova   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Severe infectious diseases of childhood as monogenic inborn errors of immunity

(2015) Jean-Laurent Casanova   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2015) S. Okada et al.   SCIENCE

Directing traffic: IL-17 and IL-22 coordinate pulmonary immune defense

(2014) Jeremy P. McAleer et al.   IMMUNOLOGICAL REVIEWS

Fungal Granuloma and Chronic Mucocutaneous Candidiasis Due To Autosomal Dominant Gain Of Function STAT1 Mutation

(2014) Nauman Salim et al.   JOURNAL OF ALLERGY AND CLINICAL 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

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

A Young Boy With a Novel, Autosomal-Dominant Signal Transducer and Activator Of Transcription 1 (STAT1) Hypermorphic Mutation Presenting With Pneumocystis Jirovecii Pneumonia (PJP), Chronic Mucocutaneous Candidiasis (CMC), and Combined Immunodeficiency

(2014) Matthew C. Altman et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Sporadic Case Of Chronic Mucocutaneous Candidiasis (CMC) Due To a Gain-Of-Function Mutation In STAT1 In a 13 Year Old Female

(2014) Aimee E. Baer Ellington 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

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

The Critical Role of Epithelial-Derived Act1 in IL-17- and IL-25-Mediated Pulmonary Inflammation

(2014) S. Swaidani 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

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

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

(2013) Bertrand Boisson et al.   IMMUNITY

Interleukin-25 (IL-25) Promotes Efficient Protective Immunity against Trichinella spiralis Infection by Enhancing the Antigen-Specific IL-9 Response

(2013) Pornpimon Angkasekwinai et al.   INFECTION AND 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

Exome sequencing identifies novel compound heterozygous mutations of IL-10 receptor 1 in neonatal-onset Crohn's disease

(2012) H Mao et al.   GENES AND 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

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

Autosomal Dominant STAT3 Deficiency and Hyper-IgE Syndrome

(2012) Marie-Olivia Chandesris et al.   MEDICINE

Defective IL10 Signaling Defining a Subgroup of Patients With Inflammatory Bowel Disease

(2011) Bernadette Begue et al.   AMERICAN JOURNAL OF GASTROENTEROLOGY

Interleukin-17C Promotes Th17 Cell Responses and Autoimmune Disease via Interleukin-17 Receptor E

(2011) Seon Hee Chang 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

IL-17RE is the functional receptor for IL-17C and mediates mucosal immunity to infection with intestinal pathogens

(2011) Xinyang Song et al.   NATURE IMMUNOLOGY

IL-17C regulates the innate immune function of epithelial cells in an autocrine manner

(2011) Vladimir Ramirez-Carrozzi et al.   NATURE IMMUNOLOGY

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

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

SEF/IL-17R (SEFIR) Is Not Enough

(2010) Reiko M. Onishi et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Critical Role of IL-25 in Nematode Infection-Induced Alterations in Intestinal Function

(2010) A. Zhao et al.   JOURNAL OF IMMUNOLOGY

Molecular explanation for the contradiction between systemic Th17 defect and localized bacterial infection in hyper-IgE syndrome

(2009) Yoshiyuki Minegishi et al.   JOURNAL OF EXPERIMENTAL MEDICINE

Structure–function relationships in the IL-17 receptor: Implications for signal transduction and therapy

(2008) Fang Shen et al.   CYTOKINE

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

Complementation of a pathogenicIFNGR2misfolding mutation with modifiers of N-glycosylation

(2008) Guillaume Vogt 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

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