中华临床免疫和变态反应杂志2025，Vol.19Issue(6)：448-454,7.DOI:10.3969∕j.issn.1673-8705.2025.06.009
自身炎症性疾病机制及诊疗研究新进展
Recent advances in the mechanisms,diagnosis,and treatment of autoinflammatory diseases
摘要
Abstract
Autoinflammatory diseases(AIDs)are a group of hereditary disorders characterized by ab-normal activation of the innate immune system.In recent years,fundamental research has deepened the under-standing of classical signaling pathways such as the tumor necrosis factor receptor-nuclear factor κB(TNFR-NF-κB)axis and the interferon signaling in regulating newly identified pathogenic genes.Emerging mecha-nisms,including protein transport disorders and mitochondrial homeostasis imbalance,have also been system-atically explored.In clinical therapy,as diagnostic classification systems are continuously refined,targeted therapies have achieved notable breakthroughs,especially in type Ⅰ interferonopathies.Updated guidelines based on evidence-based medicine emphasize the necessity of multidisciplinary collaboration.Future directions in AID research include the establishment of a unified disease nomenclature and stratified diagnostic criteria,construction of multicenter prospective registry platforms,dynamic assessment of biomarkers,accelerated clini-cal validation of novel targeted therapies,and integration of real-world data to realize the implementation of pre-cision medicine.This review systematically summarizes key breakthroughs in basic mechanisms and recent pro-gress in clinical research,providing insights into the field's core achievements and development prospects.关键词
自身炎症性疾病/肿瘤坏死因子受体/核因子κB/Ⅰ型干扰素病/靶向治疗Key words
autoinflammatory diseases/TNFR/NF-κB/interferonopathies/Targeted therapy引用本文复制引用
张婧元,沈敏..自身炎症性疾病机制及诊疗研究新进展[J].中华临床免疫和变态反应杂志,2025,19(6):448-454,7.基金项目
中国医学科学院医学与健康科技创新工程项目(2024-I2M-C&T-B-014) （2024-I2M-C&T-B-014）
中央高水平医院临床科研业务费(2022-PUMCH-D-002) （2022-PUMCH-D-002）
疑难重症及罕见病全国重点实验室开放研究课题(2025-O-ZD-005) CAMS Innovation Fund for Medical Sciences(CIFMS)(2024-I2M-C&T-B-014) （2025-O-ZD-005）
National High Level Hospital Clinical Research Funding(2022-PUMCH-D-002) （2022-PUMCH-D-002）
Open Research Fund of the State Key Laboratory of Complex,Severe,and Rare Diseases(2025-O-ZD-005) （2025-O-ZD-005）
