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.
国家科技期刊平台
NSTL
万方数据
维普
