Characterization of a Novel Pathogenic PLCG2 Variant Leading to APLAID Syndrome Responsive to a TNF Inhibitor.
Zhaohui YangPanfeng TaoXu HanAnna KozlovaTingyan HeEgor VolchkovZoya NesterenkoDmitryi PershinElena RaykinaTimur FatkhudinovAnastasia KorobeynikovaIvona AksentijevichJun YangAnna ShcherbinaQing ZhouXiaomin YuPublished in: Arthritis & rheumatology (Hoboken, N.J.) (2024)
Our findings demonstrated that the PLCG2 D993Y variant is a gain-of-function mutation via impairing its autoinhibition, activating multiple inflammatory signaling pathways, thus leading to APLAID syndrome. This study further broadens the molecular underpinnings and phenotypic spectrum of PLCγ2-related disorders.