Abstract: 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-of-function mutations， JAK1 gain-of-function mutations， ATAD3A mutations，and RELA mutations. 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.

Key words: interferonopathy, autoinflammation, research progress

摘要： Ⅰ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。

关键词: 干扰素病, 自身炎症, 研究进展