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

• Published in: Modern rheumatology Vol. 17; no. 6; p. 496
• Main Authors: Koike, Ryuji, Kubota, Tetsuo, Hara, Yukichi, Ito, Sayaka, Suzuki, Kyoko, Yanagisawa, Kayoko, Uchibori, Ken, Miyasaka, Nobuyuki
• Format: Journal Article
• Language: English
• Published: Tokyo Informa Healthcare 01.12.2007
• Subjects: Case studies; Genetic disorders; Medical diagnosis; Mutation

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...