A case of Muckle-Wells syndrome caused by a novel H312P mutation in NALP3 (cryopyrin).

A case of Muckle-Wells syndrome caused by a novel H312P mutation in NALP3 (cryopyrin). Research Abstract Details 

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A case of Muckle-Wells syndrome caused by a novel H312P mutation in NALP3 (cryopyrin). Abstract Text:

Ryuji Koike,Tetsuo Kubota,Yukichi Hara,Sayaka Ito,Kyoko Suzuki,Kayoko Yanagisawa,Ken Uchibori,Nobuyuki Miyasaka,Ryuji Koike,Tetsuo Kubota,Yukichi Hara,Sayaka Ito,Kyoko Suzuki,Kayoko Yanagisawa,Ken Uchibori,Nobuyuki Miyasaka,Ryuji Koike,Tetsuo Kubota,Yukichi Hara,Sayaka Ito,Kyoko Suzuki,Kayoko Yanagisawa,Ken Uchibori,Nobuyuki Miyasaka,

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.

A case of Muckle-Wells syndrome caused by a novel H312P mutation in NALP3 (cryopyrin). Publishing Authors By Initials

R Koike,T Kubota,Y Hara,S Ito,K Suzuki,K Yanagisawa,K Uchibori,N Miyasaka,R Koike,T Kubota,Y Hara,S Ito,K Suzuki,K Yanagisawa,K Uchibori,N Miyasaka,R Koike,T Kubota,Y Hara,S Ito,K Suzuki,K Yanagisawa,K Uchibori,N Miyasaka,

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A case of Muckle-Wells syndrome caused by a novel H312P mutation in NALP3 (cryopyrin). Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Modern rheumatology / the Japan Rheumatism Associa

VOLUME: 17

Page Numbers: 496-9

Journal Abbreviation: Mod Rheumatol

ISSN: 1439-7595

DAY: 20

MONTH: 12

YEAR: 2007

A case of Muckle-Wells syndrome caused by a novel H312P mutation in NALP3 (cryopyrin). Information

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LANGUAGE: eng

NlmUniqueID: 100959226

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AFFILIATION: Department of Pharmacovigilance, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8519, Japan.

Country: Japan

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MEDLINETA: Mod Rheumatol

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