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- W2153224863 abstract "Tumour necrosis factor receptor associated periodic syndrome (TRAPS) is an autosomal dominant disorder resulting from mutations in the TNFRSF1A gene,1 characterised by recurrent attacks of fever, abdominal pain, severe myalgia, skin rashes, conjunctivitis, and/or periorbital oedema.2,3 These symptoms, which are partially explained by the unopposed action of tumour necrosis factor (TNF) owing to decreased soluble TNF receptor 1 (sTNFRSF1A) serum levels,4 can be alleviated by administration of etanercept, which is a TNFRSF1B (TNFR2) p75:Fc fusion protein.2,5We describe a family in which one of three affected members with central nervous system (CNS) symptoms developed a demyelinating disorder suspected to be a feature of TRAPS.A 20 year old white man and his 25 year old sister had complained about recurrent attacks of fever, abdominal and loin pain, severe myalgia, skin lesions, sore throat, conjunctivitis, and periorbital oedema since early childhood. These attacks had come at irregular intervals, lasted for 2–3 weeks, and were accompanied by greatly increased acute phase reactants. During childhood both patients had …" @default.
- W2153224863 created "2016-06-24" @default.
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- W2153224863 date "2004-10-01" @default.
- W2153224863 modified "2023-10-18" @default.
- W2153224863 title "Tumour necrosis factor receptor associated periodic syndrome (TRAPS) with central nervous system involvement" @default.
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- W2153224863 doi "https://doi.org/10.1136/ard.2003.016006" @default.
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