免疫出生错误中的免疫缺陷伴自身炎症现象
Immunodeficiency with autoinflammation in inborn errors of immunity
杜鸿强 1赵晓东1
作者信息
- 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 儿童感染与免疫罕见病重庆市重点实验室,重庆 400014
- 折叠
摘要
免疫出生错误(inborn errors of immunity,IEI)是一类单基因遗传病,由编码免疫分子的基因发生可遗传突变所致,其经典的临床表现是反复感染.单基因自身炎症性疾病(monogenic autoinflammatory diseases,mAID)是 IEI 中一个相对较新的亚类,其经典表现是非感染性的过度炎症.近年来,越来越多的复杂IEI被发现,部分复杂IEI患者同时出现免疫缺陷和自身炎症表现.文章简要总结和介绍这部分IEI的临床表现,以更新临床同仁对IEI或者mAID的认识,减少漏诊漏治.
Abstract
Inborn errors of immunity(IEIs)are a type of monogenic genetic disease caused by heritable mutation in genes encoding immune molecules,with the classic clinical manifestations being recurrent infections.Monogenic autoinflammatory diseases(mAID)represent a relatively new subclass of IEI,characterized by non-infectious hyperin-flammation.In recent years,an increasing number of complex IEls have been discovered,with some patients exhibiting both immunodeficiency and autoinflammatory manifestations.This article provides a brief summary and introduction to the clinical manifestations of these IEls,aiming to update clinicians'understanding of IEI or mAID and reduce misdiagnosis and under-treatment.
关键词
免疫出生错误/单基因自身炎症性疾病/反复感染/过度炎症/基因突变Key words
inborn errors of immunity/monogenic autoinflam-matory diseases/recurrent infection/hyperinflammation/genetic mutation引用本文复制引用
出版年
2024
国家科技期刊平台
NSTL
万方数据