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Article

Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis.

Arthritis and rheumatism - 1 Sept 2002

Aganna Ebun, Martinon Fabio, Hawkins Philip N, Ross John B, Swan Daniel C, Booth David R, Lachmann Helen J, Bybee Alison, Gaudet Roxanne, Woo Patricia, Feighery Conleth, Cotter Finbarr E, Thome Margot, Hitman Graham A, Tschopp Jürg, McDermott Michael F

Abstract excerpt

OBJECTIVE: Familial cold urticaria (FCU) and Muckle-Wells syndrome (MWS) are dominantly inherited autoinflammatory disorders that cause rashes, fever, arthralgia, and in some subjects, AA amyloidosis, and have been mapped to chromosome 1q44. Sensorineural deafness in MWS, and provocation of symptoms by cold in FCU, are distinctive features. This study was undertaken to characterize the genetic basis of FCU, MWS,...

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Share to Amyloidosis
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to NLR Family, Pyrin Domain-Containing 3 Protein

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Source

Identifiers

PMID: 12355493
DOI: 10.1002/art.10509

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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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