自身炎症、抗体缺乏和免疫失调(APLAID)综合征分子遗传学研究进展  

Research progress on molecular genetics of APLAID syndrome

作　　者：王天骄 吴丽芳 刘晓琳 王华 范宜佳 滕懿群[1] WANG Tianjiao;WU Lifang;LIU Xiaolin;WANG Hua;FAN Yijia;TENG Yiqun(Department of Pediatrics,the Second Affiliated Hospital of Jiaxing University,Jiaxing,Zhejiang 314000,China;Department of Pediatrics,Pinghu Women and Children’s Hospital,Pinghu,Zhejiang 314200,China;Department of General Surgery,the Second Affiliated Hospital of Jiaxing University,Jiaxing,Zhejiang 314000,China)

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

出　　处：《中国优生与遗传杂志》2023年第11期2380-2385,共6页Chinese Journal of Birth Health & Heredity

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(2021AD30089、2022AD30023)。

摘　　要：自身炎症、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(AID),其临床表现复杂,多不具有特异性,与其他AID存在临床表型的相似和重叠,遗传学机制和诊治方案尚未达成统一共识。既往研究考虑为PLCG2基因突变导致PLCγ2超活化,细胞内钙离子释放增加,从而激发下游多通路活动,诱发全身炎症性病变。随着更多APLAID病例的报道以及分子机制的研究不断深入,发现其分子遗传学机制复杂多样,并且不同的遗传突变位点可能伴有不同的临床表型,明确的诊断和治疗需要依赖于病史、临床表型和基因检测结果的综合分析。本文结合国内外相关文献就APLAID综合征分子遗传学进展进行综述,以期为APLAID综合征的诊断和治疗提供参考。Autoinflammation,antibody deficiency,and immune dysregulation(APLAID)is a rare autoinflammatory disease(AID)caused by PLCG2 gene mutation.Its clinical manifestations are complex,mostly non-specific,and its clinical phenotypes are similar and overlap with those of other AID.There is no consensus on the genetic mechanism and diagnosis and treatment.Previous studies considered that PLCG2 gene mutation led to PLCγ2 hyperactivation and increased release of intracellular calcium ions,thus stimulating downstream multi-pathway activities and inducing systemic inflammatory lesions.As more cases of APLAID have been reported and the molecular mechanism of APLAID has been further studied,the molecular genetic mechanism of APLAID has been found to be complex and diverse,and different genetic mutation sites may be associated with different clinical phenotypes.Definitive diagnosis and treatment depend on a comprehensive analysis of the history,clinical phenotype,and genetic test results.In this paper,the advances in molecular genetics of APLAID syndrome were reviewed based on relevant literatures at home and abroad,in order to provide reference for diagnosis and treatment of APLAID syndrome.

关 键 词：APLAID综合征 磷脂酶Cγ2 自身炎症性疾病 遗传学 发病机制 

分 类 号：R725.9[医药卫生—儿科]