STAT1Mutations in Autosomal Dominant Chronic Mucocutaneous Candidiasis

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

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

De novo mutations of SETBP1 cause Schinzel-Giedion syndrome

(2010) Alexander Hoischen et al.   NATURE GENETICS

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

Autosomal dominant chronic mucocutaneous candidiasis and primary hypothyroidism complicated by oesophageal carcinoma

(2009) D. Koch et al.   CLINICAL AND EXPERIMENTAL DERMATOLOGY

Influence of Signal Transducer and Activator of Transcription-1 Signaling on Thyroid Morphology and Function

(2009) Hiroaki J. Kimura et al.   ENDOCRINOLOGY

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

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

High fidelity of whole-genome amplified DNA on high-density single nucleotide polymorphism arrays

(2008) Jinchuan Xing et al.   GENOMICS

Autoantibodies against Type I Interferons as an Additional Diagnostic Criterion for Autoimmune Polyendocrine Syndrome Type I

(2008) Antonella Meloni et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

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

An integrated model of the recognition of Candida albicans by the innate immune system

(2007) Mihai G. Netea et al.   NATURE REVIEWS MICROBIOLOGY