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Article

A three-generation Muckle-Wells syndrome family: Detailed family history, physical examination, and inter-departmental collaboration.

Modern rheumatology case reports - 24 Jun 2022

Kato Daigo, Yamaide Fumiya, Kida Issei, Takasaki Yoshinari, Sato Noriko, Nakano Taiji, Yamaide Akiko, Shimojo Naoki

Abstract excerpt

Cryopyrin-associated periodic syndrome (CAPS) is a rare inherited autoinflammatory disease caused by gain-of-function mutations in the NLRP3 gene, with a genotype-phenotype correlation. The clinical presentation of each mutation has been previously studied. However, very few studies have reported on the clinical characteristics and treatment effectiveness across different generations within a family with the same...

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PMID: 34979568
DOI: 10.1093/mrcr/rxab037

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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