自身炎症和PLCγ2相关的抗体缺乏和免疫失调

Autoinflammation with PLCγ2 associated antibody deficiency and immune dysregulation

自身炎症和磷脂酶Cγ2(PLCγ2)相关的抗体缺乏和免疫失调(APLAID)是一种由PLCG2基因突变引起的罕见自身炎症性疾病(AIDs),其临床特点复杂多样,多不具有特异性,发病机制尚未达成统一共识,临床工作中难以鉴别,明确诊断往往需要综合病史、临床表现和基因检测等多方面分析。本文就APLAID的发病机制与临床表型进行综述,以期为APLAID的诊断和治疗提供参考。

Autoinflammation with phospholipase C gamma 2(PLCγ2)associated antibody deficiency and immune dysregulation(APLAID)is a rare autoinflammatory disease caused by variants in the PLCG2 gene.Its clinical characteristics are complex and diverse,often without specificity,and the pathogenesis has not yet reached a unified consensus.It is often difficult to distinguish in clinical work.A clear diagnosis depends on comprehensive analysis of medical history,clinical manifestations,and genetic testing.This article reviews the progress in pathogenesis and clinical phenotypes of APLAID.