ERBIN deficiency links STAT3 and TGF-β pathway defects with atopy in humans.

ABSTRACT: Nonimmunological connective tissue phenotypes in humans are common among some congenital and acquired allergic diseases. Several of these congenital disorders have been associated with either increased TGF-β activity or impaired STAT3 activation, suggesting that these pathways might intersect and that their disruption may contribute to atopy. In this study, we show that STAT3 negatively regulates TGF-β signaling via ERBB2-interacting protein (ERBIN), a SMAD anchor for receptor activation and SMAD2/3 binding protein. Individuals with dominant-negative STAT3 mutations (STAT3^mut ) or a loss-of-function mutation in ERBB2IP (ERBB2IP^mut ) have evidence of deregulated TGF-β signaling with increased regulatory T cells and total FOXP3 expression. Th

SUBMITTER: Lyons JJ 

PROVIDER: S-EPMC5339676 | biostudies-literature | 2017 Mar

REPOSITORIES: biostudies-literature