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Question CAPS are autoinflammatory diseases characterized by recurrent episodes of fever and systemic inflammation, subdivides into three different severity phenotypes (FCAS, MWS, CINCA). These syndromes are caused by mutations of NLRP3 gene coding for an intracellular multiprotein complex that mediates IL-1b processing and secretion. These mutations are gain-of-function, resulting in an inflammasome hyperactivity and IL-1b hypersecretion. We aimed to: increase the knowledge on pathologic consequences of NLRP3 mutations in CAPS patients; understand the molecular and regulatory mechanisms of CAPS disease; identify novel molecular targets for the treatment of cryopyrin/NLRP3 related disorders.

pediatric rheumatology online journal

Cryopyrin associated periodic syndromes (CAPS): immunological characterization of knock-in mouse model to exploit novel approaches for the modulation of the NLRP3 inflammasome.