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

作　　者：王天骄 吴丽芳 刘晓琳 王华 刘珏 应勤来 滕懿群[1] 范宜佳 WANG Tian-jiao;WU Li-fang;LIU Xiao-lin;WANG Hua;LIU Jue;YING Qin-lai;TENG Yi-qun;FAN Yi-jia(Department of Pediatrics,The Second Affiliated Hospital of Jiaxing University,Jiaxing 314000,China;Department of General surgery,The Second Affiliated Hospital of Jiaxing University,Jiaxing 314000,China;Department of Pediatrics,Pinghu Maternal and Child Health Center,Pinghu 314200,China)

机构地区：[1]嘉兴学院附属第二医院儿科,浙江嘉兴314000 [2]嘉兴学院附属第二医院普外科,浙江嘉兴314000 [3]平湖市妇幼保健院儿科,浙江平湖314200

出　　处：《中华临床免疫和变态反应杂志》2024年第1期57-62,共6页Chinese Journal of Allergy & Clinical Immunology

基　　金：浙江省医药卫生科技计划项目(2022KY1255,2023RC283);嘉兴市科技计划项目(2022AD30023,2021AD30089)。

摘　　要：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.

关 键 词：APLAID 磷脂酶Cγ2 自身炎症性疾病 发病机制 临床表型 

分 类 号：R593.2[医药卫生—内科学]