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 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 IEI or mAID and reduce misdiagnosis and under-treatment.

Key words: inborn errors of immunity, monogenic autoinflam-matory diseases, recurrent infection, hyperinflammation, genetic mutation

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。

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