免疫肌动蛋白病及致病基因研究进展  

Progress Research in the Immune-Actinopathies and Pathogenic Genes

作　　者：马诗韵 周丽娜[1] 安云飞[1] 赵晓东[1] MA Shiyun;ZHOU Lina;AN Yunfei;ZHAO Xiaodong(Department of Rheumatology and Immunology,Children′s Hospital of Chongqing Medical University,National Clinical Research Center for Child Health and Disorders,Ministry of Education Key Laboratory of Child Development and Disorders,China International Science and Technology Cooperation Base of Child Development and Critical Disorders,Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity,Chongqing 400014,China)

机构地区：[1]重庆医科大学附属儿童医院风湿免疫科,国家儿童健康与疾病临床医学研究中心,儿童发育疾病研究教育部重点实验室,儿童发育重大疾病国家国际科技合作基地,儿童感染与免疫罕见病重庆市重点实验室,重庆400014

出　　处：《罕见病研究》2024年第4期416-422,共7页Journal of Rare Diseases

摘　　要：免疫肌动蛋白病是一类主要由肌动蛋白重构相关调控基因突变导致的以免疫缺陷和免疫失调为主要表现的单基因遗传性疾病。肌动蛋白相关调控基因发生变异可导致肌动蛋白活化、延伸、分支、转录等功能缺陷,影响细胞骨架及伪足形成,进一步影响免疫细胞变形、运动、吞噬和黏附等功能,从而表现为感染、自身炎症、自身免疫、易患肿瘤等多种临床表现,临床识别及诊断困难。免疫肌动蛋白病的临床表现多样,包括反复感染、自身免疫、肿瘤倾向等,部分疾病的致病机制已初步阐明。新的免疫肌动蛋白病致病基因鉴定与机制研究、精准治疗靶点发现和药物研发、造血干细胞移植策略改进以及基因治疗是未来研究的重点。免疫肌动蛋白病发病率低,临床表现多样,容易误诊、漏诊。本文详细阐述肌动蛋白的致病基因缺陷及其临床表现,以期为临床提供参考价值。Immuno-actinopathies are hereditary diseases characterized by immunodeficiency and immune dysregulation due to the mutations in single genes which are regulating actin remodeling.Mutations in actin-related regulatory genes can lead to functional defects in actin activation,extension,branching,transcription and others.The mutations also affect the cytoskeleton and pseudopod formation;then they further affect the functions of immune cell,resulting in cell deformation,motility,phagocytosis,and adhesion.The clinical manifestations vary,including infection,autoimmunity,autoinflammatory,and susceptibility to tumors,making the detection and diagnosis difficult.The pathogenic mechanisms of some of the related diseases have been preliminarily elucidated.Future research will focus on the identification of new immunoactinopathy-caused genes and its mechanism,discovery of new precision therapeutic target,development of drugs,improvement of hematopoietic stem cell transplantation strategies,and discovery of new gene therapy.Immuno-actinopathies have a low incidence rate with diversified clinical manifestations so that they are easy to be misdiagnosed and missed.This article reviews the pathogenic gene defects of actinopathies and their clinical manifestations in detail that are valuable to clinical reference.

关 键 词：原发性免疫缺陷病 免疫肌动蛋白病 肌动蛋白 

分 类 号：R725.5[医药卫生—儿科]