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 

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