Ultra-Rare BRD9 Loss-of-Function Variants Limit the Antiviral Action of Interferon.

ABSTRACT: The human type I interferon (IFN) system is central to innate immune defense, and is essential to protect individuals against severe viral disease. Consequently, genetic disruption of IFN signaling or effector mechanisms is extremely rare, as affected individuals typically suffer life-threatening infections at an early age. While loss-of-function (LOF) mutations in canonical JAK-STAT signaling genes (such as IFNAR2, TYK2, STAT1, STAT2 and IRF9) have previously been characterized, little is known about the consequences of mutations in other human factors required for IFN signaling. Here, we studied the impact of rare human genetic variants in the recently identified contributor to IFN-stimulated gene expression and antiviral activity, bromodomain-containing protein 9 (BRD9). Using a cell-ba

SUBMITTER: Mair NK 

PROVIDER: S-EPMC9468519 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature