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.
Immunodeficiency with autoinflammation in inborn errors of immunity
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.
inborn errors of immunitymonogenic autoinflam-matory diseasesrecurrent infectionhyperinflammationgenetic mutation
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