自身炎症性疾病的诊疗进展

Advances in the Diagnosis and Treatment of Autoinflammatory Diseases

摘要: 自身炎症性疾病(autoinflammatory dieases, AIDs)是由于固有免疫系统缺陷或功能紊乱，进而引起全身炎症反应的一组疾病。它多以复发性全身炎症反应和多系统受累为特征，临床上可表现为周期性的发热、皮疹或关节炎等多种形式。近年来，临床医师对该类疾病的认识不断加深，AIDs已成为一组涵盖范围广泛的疾病谱。目前广义的AIDs不仅包括50余种单基因疾病，还包含了一些尚未发现致病基因的多基因病，如全身型幼年特发性关节炎、白塞病、炎症性肠病等。而狭义的AIDs主要指基因突变引起固有免疫失调的单基因遗传病。本综述将着重阐述单基因AIDs的定义、发病机制、分类、临床表现、诊断和治疗。

Abstract: Autoinflammatory diseases (AIDs) are a group of diseases that cause systemic inflammatory re-sponses due to defects or dysfunction of the innate immune system. It is mostly characterized by recurrent systemic inflammatory response and multi-system involvement, and clinically it can be manifested in various forms such as periodic fever, rash or arthritis. In recent years, clinicians have deepened their understanding of such diseases, and AIDs have become a group of diseases covering a wide range of spectrum. At present, AIDs in a broad sense include not only more than 50 single gene diseases, but also some polygenic diseases for which no causative gene has been found, such as systemic juvenile idiopathic arthritis, Behcet’s disease, and inflammatory bowel disease. In the narrow sense, AIDs mainly refer to monogenic genetic diseases in which gene mutations cause in-nate immune disorders. This review will focus on the definition, pathogenesis, classification, clinical manifestations, diagnosis and treatment of monogenic AIDs.