A de novo PACSIN1 gene variant found in childhood lupus reveals a role for PACSIN1-TRAF4 complex in TLR7 activation.
Chengmei XieHaibo ZhouVicki AthanasopoulosQian ShenYaoyuan ZhangXiangpeng MengGaetan BurgioTodor ArsovAdrian C LunguPingjing ZhangYuting QinJiangyang MaXiaoqian WuXiaoyue JiangHuihua DingYao MengNan ShenYuke HeCarola G VinuesaPublished in: Arthritis & rheumatology (Hoboken, N.J.) (2023)
PACSIN1 Q59K increases IFN-β activity via impairing TRAF4-mediated inhibition of TLR7 signaling, possibly contributing to SLE risk. This article is protected by copyright. All rights reserved.