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

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

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

Genetic, Clinical, and Laboratory Markers for DOCK8 Immunodeficiency Syndrome

(2013) Jeremiah C. Davis et al.   DISEASE MARKERS

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

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

Unravelling fungal immunity through primary immune deficiencies

(2012) Desa Lilic   CURRENT OPINION IN MICROBIOLOGY

Mendelian traits causing susceptibility to mucocutaneous fungal infections in human subjects

(2012) Karin R. Engelhardt et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

TH17 deficiency in human disease

(2012) Douglas R. McDonald   JOURNAL OF ALLERGY AND CLINICAL 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

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

Impaired TH17 responses in patients with chronic mucocutaneous candidiasis with and without autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy

(2010) Wan-Fai Ng et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

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

Inflammatory Effects of Ex Vivo Human Th17 Cells Are Suppressed by Regulatory T Cells

(2010) S. Q. Crome et al.   JOURNAL OF IMMUNOLOGY

Defects along the TH17 differentiation pathway underlie genetically distinct forms of the hyper IgE syndrome

(2009) Shadi Al Khatib et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome

(2009) Karin R. Engelhardt et al.   JOURNAL OF ALLERGY AND CLINICAL IMMUNOLOGY

Combined Immunodeficiency Associated withDOCK8Mutations

(2009) Qian Zhang 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

Human interleukin 17–producing cells originate from a CD161+CD4+T cell precursor

(2008) Lorenzo Cosmi 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

Patients with Chronic Mucocutaneous Candidiasis Exhibit Reduced Production of Th17-Associated Cytokines IL-17 and IL-22

(2008) Kilian Eyerich et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

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

(2008) Joshua D. Milner et al.   NATURE