Ontology highlight
ABSTRACT:
SUBMITTER: Smeekens SP
PROVIDER: S-EPMC3237610 | biostudies-literature | 2011
REPOSITORIES: biostudies-literature
PloS one 20111214 12
We recently reported the genetic cause of autosomal dominant chronic mucocutaneous candidiasis (AD-CMC) as a mutation in the STAT1 gene. In the present study we show that STAT1 Arg274Trp mutations in the coiled-coil (CC) domain is the genetic cause of AD-CMC in three families of patients. Cloning and transfection experiments demonstrate that mutated STAT1 inhibits IL12R/IL-23R signaling, with hyperphosphorylation of STAT1 as the likely underlying molecular mechanism. Inhibition of signaling thro ...[more]