CAPS综合征如何诊断？NLRP3基因突变与2024最新治疗指南解析

Cryopyrin-associated periodic syndromes (CAPS) are a group of rare, inherited inflammatory disorders caused by mutations in the NLRP3 gene, which encodes the cryopyrin protein. These syndromes include familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease (NOMID), also known as chronic infantile neurologic cutaneous articular (CINCA) syndrome. CAPS are characterized by recurrent episodes of fever, rash, joint pain, and other systemic symptoms.