快速进展的自身炎症性疾病

Autoinflammatory Diseases:a Rapidly Advancing Field

自身炎症性疾病(AIDs)是一组以全身炎症反应和多系统受累为特征,固有免疫起主要致病作用的遗传性疾病。自1999年概念提出以来,AIDs的研究快速进展,已发现至少56种自身炎症性疾病,逐渐深化了对固有免疫与适应性免疫之间相互作用的认识。不同分类的AIDs在临床表现上具有特点,对高度怀疑的病例仍应尽可能进行基因检测。对未分化自身炎症性疾病的诊断、组学驱动的AIDs精准分层、AIDs靶向治疗将是未来重要的研究方向。本文介绍AIDs概念、机制、分类的快速进展,总结其临床表型特点、诊断挑战及治疗经验,以期提高大众对此病的认识。

Autoinflammatory diseases(AIDs)are a group of genetic disorders characterized by general⁃ized inflammatory responses and multiorgan involvement primarily caused by dysregulated innate immunity.Since the introduction of this concept,AIDs has been a rapidly advancing research field including at least 56 diseases,deepening the understanding of the interaction between innate and adaptive immunity.Despite distinct features displayed by AIDs of different categories,genetic testing remains essential for highly suspected cases.The diagnosis of undifferentiated systemic autoinflammatory diseases,omics⁃powered precision stratification and targeted therapy for AIDs are promising research areas in the future.This article introduces the rapid progresses in AIDs concept,mechanism,and classification.We present a summary of the characteristic clinical phenotype,as well as the current diagnostic challenges and treatment experiences,in the hope of raising the awareness of these disorders.