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A variant Muckle-Wells syndrome with a novel mutation inCIAS1gene responding to anakinra

✍ Scribed by Buket Dalgic; Odul Egritas; Sinan Sari; Laurence Cuisset

Book ID
106160661
Publisher
Springer
Year
2007
Tongue
English
Weight
125 KB
Volume
22
Category
Article
ISSN
0931-041X

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✍ Takashi Yamazaki; Junya Masumoto; Kazunaga Agematsu; Nobukuni Sawai; Shinji Koba 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 148 KB

## Abstract Muckle‐Wells syndrome (MWS) is a dominantly inherited autoinflammatory syndrome. Patients with MWS have a mutation in __CIAS1__, the gene encoding cryopyrin, a component of the inflammasome that regulates the processing of interleukin‐1β (IL‐1β). In this report we describe an 8‐year‐old