Article

Identification of a Variant in NLRP3 Gene in a Patient with Muckle-Wells Syndrome: A Case Report

2022-07-28

Abstract excerpt

<title>Abstract</title> <p><bold>Background:</bold> Cryopyrin-associated periodic syndrome (CAPS), a rare genetic autoimmune disease, is composed of familial cold autoinflammatory syndrome (FCAs), Muckle-Wells syndrome (MWS), and neonatal onset multisystem inflammatory disease (NOMID). MWS is caused by dominantly inherited or de novo gain-of-function mutations in the NOD-like receptor 3 (<italic>NLRP3</italic>) g...

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Literature Corpus work: 51b7b79d-eefc-51e0-b540-9e0b9ae1cb5e
DOI: 10.21203/rs.3.rs-1875943/v1

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