Ⅰ型干扰素病研究进展

Research progress of type Ⅰ interferonopathy

型干扰素病(type I interferonopathy)是一组新型疾病,是由特定基因突变引起Ⅰ型干扰素的过度上调,从而导致全身多系统炎症反应。文章综述了近年来在Ⅰ型干扰素病发病机制、疾病种类和治疗进展方面的研究。重点介绍了核酸感知通路的异常等关键发病机制和ARF1缺陷、STAT2功能丧失突变、JAK1功能获得突变、ATAD3A突变和RELA突变等多种新的Ⅰ型干扰素病。尽管目前尚缺乏有循证医学证据的治疗方案,但糖皮质激素、抗白介素(IL)-1、抗IL-6、抗干扰素受体等疗法和JAK抑制剂等药物可部分缓解疾病进展。

Type I interferonopathy is a group of novel diseases characterized by excessive upregulation of type I interferons due to specific gene mutations,leading to systemic multi-systemic inflammatory reactions.This article reviews recent research progress in the pathogenesis,disease types,and therapeutic advances of type 1 interferonopathy.It highlights key pathogenic mechanisms such as abnormalities in nucleic acid sensing pathways and various new type 1 interferonopathies including ARF1 defects,STAT2 loss-offunction mutations,JAK1 gain-of-function mutations,ATAD3Amutations,and RELAAmutations.Although evidence-based therapeutic strategies are currently lacking,treatments such as glucocorticoids,anti-IL-1,anti-IL-6,anti-interferon receptor therapies,and JAK inhibitors can partially alleviate disease progression.