自身炎症性疾病的致病基因概述  

Review of autoinflammatory diseases pathogenic genes

作　　者：韩旭 周青 HAN Xu;ZHOU Qing(Life Science Institute,Zhejiang University,Hangzhou 310058,China)

机构地区：[1]浙江大学生命科学研究院,浙江杭州310058

出　　处：《西北大学学报（自然科学版）》2024年第5期811-821,共11页Journal of Northwest University（Natural Science Edition）

基　　金：国家杰出青年科学基金项目(82225022)。

摘　　要：自身炎症性疾病(autoinflammatory disease,AIDs)是一类因先天性免疫系统过度激活而引发的疾病,主要表现为全身的炎症反应和多系统多器官的受累。在AIDs中,遗传因素发挥着重要作用。自首个单基因AIDs被发现以来,目前系统性自身炎症性疾病的致病基因已超过50个。随着免疫学和基因组学研究的进展,AIDs的致病基因谱被不断拓展,对AIDs的认识也逐渐加深。从AIDs的致病基因和临床表型出发,总结了AIDs的致病机制,有助于以更全面的视角了解这一类疾病。Autoinflammatory diseases(AIDs)is a group of inflammatory disease caused by excessive activation of innate immune system,with ubiquitous inflammation and involvement of multiple systems and organs.Genetics plays an important role in the pathogenesis of AIDs.So far,there are more than 50 monogenic AIDs causal genes have been described since the discovery of the first autoinflammatory disease.With the progress of immunological and genomic research,the spectrum of AIDs pathogenic genes was expanded with better interpretation of AIDs.With the introduction to AIDs causal genes and clinical phenotypes,we provide a comprehensive review of the pathogenesis of AIDs to better understand this group of disorders.

关 键 词：自身炎症性疾病 生殖系突变 体细胞突变 单基因疾病 

分 类 号：R394[医药卫生—医学遗传学]