2024 05 v.54 811-821
自身炎症性疾病的致病基因概述
基金项目(Foundation):
国家杰出青年科学基金项目(82225022)
邮箱(Email):
zhouq2@zju.edu.cn;
DOI:
10.16152/j.cnki.xdxbzr.2024-05-004
中文作者单位:
浙江大学生命科学研究院;
摘要(Abstract):
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。
关键词(KeyWords):
自身炎症性疾病;生殖系突变;体细胞突变;单基因疾病
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参考文献
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基本信息:
DOI:10.16152/j.cnki.xdxbzr.2024-05-004
中图分类号:R593.2
引用信息:
[1]韩旭,周青.自身炎症性疾病的致病基因概述[J].西北大学学报(自然科学版),2024,54(05):811-821.DOI:10.16152/j.cnki.xdxbzr.2024-05-004.
基金信息:
国家杰出青年科学基金项目(82225022)
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