Ontology highlight
ABSTRACT:
SUBMITTER: Depner M
PROVIDER: S-EPMC4718942 | biostudies-literature | 2016 Jan
REPOSITORIES: biostudies-literature
Depner Mark M Fuchs Sebastian S Raabe Jan J Frede Natalie N Glocker Cristina C Doffinger Rainer R Gkrania-Klotsas Effrossyni E Kumararatne Dinakantha D Atkinson T Prescott TP Schroeder Harry W HW Niehues Tim T Dückers Gregor G Stray-Pedersen Asbjørg A Baumann Ulrich U Schmidt Reinhold R Franco Jose L JL Orrego Julio J Ben-Shoshan Moshe M McCusker Christine C Jacob Cristina Miuki Abe CM Carneiro-Sampaio Magda M Devlin Lisa A LA Edgar J David M JD Henderson Paul P Russell Richard K RK Skytte Anne-Bine AB Seneviratne Suranjith L SL Wanders Jennifer J Stauss Hans H Meyts Isabelle I Moens Leen L Jesenak Milos M Kobbe Robin R Borte Stephan S Borte Michael M Wright Dowain A DA Hagin David D Torgerson Troy R TR Grimbacher Bodo B
Journal of clinical immunology 20151125 1
<h4>Purpose</h4>Gain-of-function (GOF) mutations in the signal transducer and activator of transcription 1 (STAT1) result in unbalanced STAT signaling and cause immune dysregulation and immunodeficiency. The latter is often characterized by the susceptibility to recurrent Candida infections, resulting in the clinical picture of chronic mucocutaneous candidiasis (CMC). This study aims to assess the frequency of GOF STAT1 mutations in a large international cohort of CMC patients.<h4>Methods</h4>ST ...[more]