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Article

A case of cryopyrin-associated periodic syndrome due to somatic mosaic mutation complicated with recurrent circinate erythematous psoriasis.

Modern rheumatology case reports - 8 Jul 2024

Ando Taiki, Abe Yoshiyuki, Yamaji Ken, Nishikomori Ryuta, Tamura Naoto

Abstract excerpt

Cryopyrin-associated periotic syndrome (CAPS) is a rare autoinflammatory disease caused by genetic variants in innate immunity genes. Autoinflammatory diseases, including CAPS, mediate proinflammatory cytokines such as interleukin (IL)-1 and IL-18 and result in severe systemic inflammation. A gain-of-function mutation in the NLR family pyrin domain-containing 3 (NLRP3) gene, which encodes the protein cryopyrin,...

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Source

Identifiers

PMID: 38036300
DOI: 10.1093/mrcr/rxad067

Genes

CAPS
NLRP3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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