免疫缺陷与自身炎症,免疫系统的“阴”与“阳”  

Immune Deficiency and Autoinflammation,the"Yin"and"Yang"of the Immune System

作　　者：周煜 宋红梅[1] ZHOU Yu;SONG Hongmei(Department of Pediatrics,Peking Union Medical College Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China)

机构地区：[1]中国医学科学院北京协和医院儿科,北京100730

出　　处：《罕见病研究》2024年第4期411-415,共5页Journal of Rare Diseases

基　　金：国家重点研发计划(2021YFC2702001);中央高水平医院临床科研业务费(2022-PUMCH-B-079)。

摘　　要：免疫出生缺陷(IEI)是由于基因变异导致的免疫系统疾病,通常表现为不同程度的感染、免疫失调、淋巴增殖和肿瘤倾向等。尽管最早的IEI通常是在表现为异常、反复感染的患者中诊断,但诸多研究表明,非感染表现也可能是IEI的首发甚至主要表现。在过去的10余年中,越来越多引起自身炎症的IEI被发现。尽管这些疾病很少见,但对这些疾病的研究提示免疫缺陷与自身炎症并不是截然对立的,而是作为免疫系统的阴阳两面相互影响。本文回顾了引起自身炎症的IEI涉及的机制,同时提出识别表现为自身炎症的IEI一些线索,总结目前对于表现为自身炎症的IEI的诊治进展,并对未来IEI的相关研究提出展望。Inborn errors of immunity(IEI)are immune system disorders caused by genetic mutations,often presenting with varying degrees of infection,immune dysregulation,lymphoproliferation,and tumor susceptibility.Initially,IEIs were typically diagnosed in patients with recurrent and unusual infections.However increasing research has shown that noninfectious manifestations can also be the initial or even primary presentation of IEI.Over the past ten years,more and more IEIs associated with autoinflammatory symptoms have been identified.Although these diseases are rare,relevant research suggests that immune deficiency and autoinflammation are not opposing conditions but rather interconnected aspects of the immune system,influencing each other in a complementary and inseparable manner.This article reviews the mechanisms involved in IEI with autoinflammation,and proposes some clues for identifying IEI manifested as autoinflammation.It also summarizes the current progress in the diagnosis and treatment of IEI manifested as autoinflammation,and presents prospects for future research on IEI.

关 键 词：免疫出生缺陷 自身炎症 免疫失调 

分 类 号：R725[医药卫生—儿科]