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- W2473052510 abstract "A 41-year-old patient was referred to our rheumatology ward due to a long history of urticaria, joint pain and fever. These symptoms appeared during the evening and then resolved during the night. Extensive testing in the past failed to provide a diagnosis and treatment with high-dose corticosteroids, methotrexate and colchicine was ineffective. Based on clinical criteria, including bilateral sensorineural hearing loss, we diagnosed Muckle-Wells syndrome, a rare auto-inflammatory disease considered one of the hereditary periodic fever syndromes and caused by a mutation in the CIAS1 gene. There was a remarkable response to anakinra, an interleukin-1 receptor antagonist. The favourable results suggest that interleukin-1 plays an important role in the development of this syndrome." @default.
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- W2473052510 date "2006-07-22" @default.
- W2473052510 modified "2023-09-26" @default.
- W2473052510 title "[Muckle-Wells syndrome: a rare periodic fever syndrome]." @default.
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