P02-030 - Unusual CNS manifestation
نویسندگان
چکیده
Introduction Cryopyrin-associated periodic syndrome (CAPS) is a rare systemic, monogenetic inherited autoinflammatory condition caused by NLRP3/CIAS 1 gene mutations encoding for cryopyrin, a major component of the inflammasome, leading to an excessive production of interleukin-1beta (IL-1ß). The clinical picture of genetic variations of the NLRP3 inflammasome is characterized by recurrent episodes of systemic inflammation involving skin, joints, eyes and the central nervous system and shows variable penetrance regarding disease severity and symptoms.
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