Periodic fever due to a novel TNFRSF1A mutation in a heterozygous Chinese carrier of MEFV E148Q |
| |
| Authors: | Stojanov S Lohse P McDermott M F Renner E D Kéry A Mirakian R Hammond L J Aganna E Hoffmann F Zellerer S Belohradsky B H |
| |
| Affiliation: | 1Departments of Infectious Diseases and Immunology, Children's Hospital and 2Clinical Chemistry-Grosshadern, University of Munich, Germany and Departments of 3Diabetes and Metabolic Medicine and 4Immunology, Barts and the London, Queen Mary's School of Medicine and Dentistry, University of London, London, UK |
| |
| Abstract: | SIR, The hereditary periodic fever syndromes are characterizedby recurrent episodes of fever due to multisystemic inflammation.In the case of autosomal dominantly inherited tumour necrosisfactor (TNF) receptor-associated periodic syndrome (TRAPS),these attacks are associated with severe abdominal pain, localizedmyalgia, painful migratory erythematous skin rash, conjunctivitisand/or periorbital oedema. TRAPS is caused by sequence alterationsin the TNFRSF1A gene, which encodes the 55-kDa TNF receptor[1]. Familial Mediterranean fever (FMF) is the most common autosomalrecessively inherited periodic fever syndrome. Attacks of FMFare of 13 days |
| |
| Keywords: | |
| 本文献已被 PubMed Oxford 等数据库收录！ |
|
