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Article

A variant Muckle-Wells syndrome with a novel mutation in CIAS1 gene responding to anakinra.

Pediatric nephrology (Berlin, Germany) - 1 Sept 2007

Dalgic Buket, Egritas Odul, Sari Sinan, Cuisset Laurence

Abstract excerpt

Muckle-Wells syndrome (MWS) is a subset of autoinflammatory diseases. It is characterized by recurrent inflammatory crises associated with fever, abdominal pain, persistent urticaria, arthralgia, sensorineural deafness, and possible development of multiorgan amyloid A protein (AA)-type amyloidosis. Mutations in the CIAS1 gene have been reported in MWS. Interleukin 1B (IL-1B) probably plays a major role in the...

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PMID: 17486372
DOI: 10.1007/s00467-007-0500-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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