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- Title
A case of Muckle–Wells syndrome caused by a novel H312P mutation in NALP3 (cryopyrin).
- Authors
Koike, Ryuji; Kubota, Tetsuo; Hara, Yukichi; Ito, Sayaka; Suzuki, Kyoko; Yanagisawa, Kayoko; Uchibori, Ken; Miyasaka, Nobuyuki
- Abstract
Here, we report a case of Muckle–Wells syndrome (MWS) caused by a novel mutation in the CIAS1/NALP3 gene. A 23-year-old woman had recurrent self-limited inflammatory episodes from childhood, with headache, abdominal pain, arthritis, and urticarial rash, associated with profound sensorineural hearing loss. The diagnosis was established on the basis of a typical clinical picture together with a missense mutation, which replaced an amino acid adjacent to one in an earlier reported case of MWS resembling this one.
- Subjects
CASE studies; GENES; HEADACHE; ABDOMINAL pain; ARTHRITIS; DEAFNESS; DIAGNOSIS
- Publication
Modern Rheumatology, 2007, Vol 17, Issue 6, p496
- ISSN
1439-7595
- Publication type
Article
- DOI
10.3109/s10165-007-0616-5