Research progress of type Ⅰ interferonopathy
YU Zhong-xun
GAO Si-hao
MA Ming-sheng
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.
Keywords：interferonopathyautoinflammationresearch progress
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( 444-448 )