Ontology highlight
ABSTRACT:
SUBMITTER: Ovadia A
PROVIDER: S-EPMC6102291 | biostudies-other | 2018
REPOSITORIES: biostudies-other
Ovadia Adi A Sharfe Nigel N Hawkins Cynthia C Laughlin Suzanne S Roifman Chaim M CM
NPJ genomic medicine 20180820
Signal transducer and activator of transcription 1 (STAT1) regulates multiple biological processes downstream of a variety of cytokine receptors in many cell types. Heterozygous gain-of-function (GOF) mutations in STAT1 have been associated with a diverse phenotype encompassing chronic mucocutaneous candidiasis (CMCC) and declining immunity. There is no clear correlation between STAT1 domain-specific mutations and phenotype, and it remains unclear why GOF mutations in STAT1 result in such a wide ...[more]