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Article

Identification of a variant in NLRP3 gene in a patient with Muckle-Wells syndrome: a case report and review of literature.

Pediatric rheumatology online journal - 10 Feb 2023

Liu Jia, Zhang Ranran, Yi Zhi, Lin Yi, Chang Hong, Zhang Qiuye

Abstract excerpt

BACKGROUND: 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 (NLRP3) gene. At present, there is no report about the variation...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36765385
DOI: 10.1186/s12969-023-00795-x
PMCID: PMC9918341

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Identification of a variant in NLRP3 gene in a patient with Muckle-Wells syndrome: a case report and review of literature.PMID 36765385Read ↗

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