中国实用儿科杂志

中国实用儿科杂志 ›› 2024, Vol. 39 ›› Issue (6): 432-438.DOI: 10.19538/j.ek2024060606

• 专题笔谈 • 上一篇    下一篇

炎症小体相关自身炎症性疾病研究进展

  

  1. 重庆医科大学附属儿童医院风湿免疫科  国家儿童健康与疾病临床医学研究中心  儿童发育疾病研究教育部重点实验室  儿童感染与免疫罕见病重庆市重点实验室，重庆  400014
  • 出版日期:2024-06-06 发布日期:2024-07-11
  • 通讯作者: 唐雪梅，电子信箱：tangxuemei2008@163.com
  • 基金资助:
    国家重点研发计划（2021YFC2702003）；重庆市教委科学技术研究项目（KJQN202200418）；国家儿童健康与疾病临床医学研究中心临床医学研究一般项目（NCRCCHD-2022-YP-07）

Research progress of inflammasome-associated autoinflammatory diseases

  1. Department of Rheumatology，Immunology and Allergy，the Children's Hospital of Chongqing Medical University；National Clinical Research Center for Child Health and Disorders，Ministry of Education Key Laboratory of Child Development and Disorders；Chongqing Key Laboratory of Child Rare Diseases in Infection and Immunity，Chongqing 400014，China
  • Online:2024-06-06 Published:2024-07-11

摘要： 炎症小体是细胞内一种大分子多蛋白复合物， 通过激活调节半胱氨酸天冬氨酸特异蛋白酶-1（caspase-1，CASP1）的活化， 促进白介素（IL）-1β、 IL-18 分泌，引起机体炎症反应。近年来，对不同炎症小体的分子组成和激活机制进行了广泛研究，已对多种炎症小体进行了分子表征，其中4种炎症小体的自激活突变可导致人类单基因自身炎症性疾病。文章主要对NLRP1、CARD8、NLRP3、NLRC4 和Pyrin炎症小体相关自身炎症性疾病的致病机制及临床表现、治疗研究进展进行综述。

关键词: 自身炎症性疾病, 炎症小体, 炎症小体病

Abstract: The inflammasome is a macromolecular multi-protein complex in cells， and its activation can regulate the activation of cysteine aspartic protease-1 （CASP1）， promote the activation and secretion of IL-1β and IL-18， and cause inflammation in the body. In recent years， researchers have conducted extensive studies on the molecular composition and activation mechanisms of different inflammasomes， and a variety of inflammasome molecules have been characterized， among which the self-activating mutations of four inflamm-asome can lead to single-gene autoinflammatory diseases in humans. This review focuses on the research progress of the pathogenesis， clinical manifestations and treatment of NLRP1， CARD8， NLRP3， NLRC4 and Pyrin inflammasome-related autoinflammatory diseases.

Key words: autoinflammatory diseases, inflammasome, infla-mmasomapathies