Abstract: NOD-like receptor family caspase activation and recruitment domain（CARD）- containing 4 protein associated autoinflammatory disorders（NLRC4-AIDs）are a kind of early-onset auto-inflammatory disease with NLRC4 gene gain-of -mutation. NLRC4 is a main component of cytoplasmic NLRC4 inflammasome.Because of NLRC4 mutaion，over activation of NLRC4 inflammasome leads to active caspase-1，causes the increase of IL-1 and IL-18， and induces systemic inflamatory. NLRC4-AIDs have various clinical phenotypes，with a spectrum of clinical manifestations ranging from familial cold-induced urticaria to neonatal-onset multisystem infammatory disease（NOMID），life-threatening macrophage activation syndrome（MAS）and autoinflammation with infantile enterocolitis（AIFEC）.NLRC4-AIDs are characterized by high levels of free IL-18 in the serum of patients and invasion of lymphocytes in skin biopsy. Early and rapid identification of diseases by specific biomarkers，timely clinical and genetic diagnosis，and early intervention with targeted immunomodulatory therapy are the key strategies to improve the prognosis of NLRC4-AIDs patients. The aim of this article is to review the research progress of NLRC4-AIDS.

Key words: autoinflammation diseases, macrophage activation syndrome, familial cold autoinflammatory syndrome 4, NLRC4 gene

摘要： NLRC4相关自身炎症性疾病（NLRC4-AIDs）是一种NLRC4基因功能获得性突变的早发自身炎症性疾病。NLRC4是胞浆内NLRC4炎症小体的主要组成成分，其突变会导致炎症小体过度活化，导致胱天蛋白酶（caspase-1）活化，引起炎症因子白介素（IL）-1、IL-18产生增加，导致全身炎性反应。NLRC4-AIDs的临床表型多样，涵盖了家族性寒冷性自身炎症综合征（FCAS4）、新生儿多系统炎性疾病（NOMID）以及致命的巨噬细胞活化综合征（NLRC4-MAS）和自身炎症性疾病合并婴儿小肠结肠炎（AIFEC）等。其主要的特征是血清中游离 IL-18水平增高、皮肤活检以淋巴组织细胞浸润为主等，通过特异性生物标记物进行早期快速病例识别，及时的临床及基因诊断，以及采用靶向免疫调节疗法进行早期干预，是改善NLRC4-AIDs患者预后的关键。文章就NLRC4-AIDs的研究进展进行综述。

关键词: 自身炎症性疾病, 巨噬细胞活化综合征, 家族性寒冷性自身炎症综合征4, NLRC4基因