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

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。

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 manifestationssbeing recurrentinfections.Monogenic autoinflammatory diseases(mAID)represent a relatively new subclass of IEI,characterized by non-infectious hyperinflammation.In recent years,an increasing number of complex IEIs 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 IEIs,aiming to update clinicians'understanding of IEIor mAIDand reduce misdiagnosis and under-treatment.