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- Title
A variant Muckle-Wells syndrome with a novel mutation in CIAS1 gene responding to anakinra.
- Authors
Dalgic, Buket; Egritas, Odul; Sari, Sinan; Cuisset, Laurence
- Abstract
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 pathophysiology of the disease, and IL-1B blockade may be therapeutic for this syndrome. We report here a Turkish child with MWS treated with anakinra. A novel mutation (I480F) was identified in exon 3 of the CIAS1 gene in this patient. The resolution of inflammatory symptoms, normalization of serological values, and improvement in hearing was noted with anakinra treatment.
- Subjects
URTICARIA; DEAFNESS; AMYLOIDOSIS; FEVER; ABDOMINAL pain; INFLAMMATION; FAMILIAL diseases
- Publication
Pediatric Nephrology, 2007, Vol 22, Issue 9, p1391
- ISSN
0931-041X
- Publication type
Report
- DOI
10.1007/s00467-007-0500-8