Immunodeficiency with autoinflammation in inborn errors of immunity
DU Hong-qiang
ZHAO Xiao-dong
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.
Keywords：inborn errors of immunitymonogenic autoinflam-matory diseasesrecurrent infectionhyperinflammationgenetic mutation
Publication Date：2024-06-06
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 462-466 )