نتایج جستجو برای: ژن mefv
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Sirs, We read with interest the article by Granel et al. (1) who described an overlap syndrome between familial Mediterranean fever (FMF) and tumor necrosis factor (TNF)-receptor associated periodic syndrome (TRAPS) in a patient carrying a mutation in both the MEFV and TNFRSF1A genes, In his report Granel advocated the importance of a better evaluation of the role of the R92Q mutation in TNFRSF...
Results 2 carrier for M694V and two patients who were homozygote for MEFV mutations. Both of these patients were among the most severe patients in the group. One had an excellent response to etanercept whereas the other was resistant to anti-TNF and other conventional treatments and had only a partial response to thalidomide. Although the number of severe mutations were increased in this small ...
Purpose: Mutations in the Mediterranean FeVer (MEFV) gene, which causes familial fever (FMF), may also cause emergence of other specific rheumatic diseases. This study aims to determine frequency rheumatologic diseases paediatric FMF patients, evaluate whether there are clinical and genetic differences between those with without concomitant diseases, compare data previous studies.
 Materia...
Background Systemic autoinflammatory diseases (SAIDs) are a group of diseases characterized by episodes of inflammation, usually manifested with fever and a variety of symptoms, including skin-rash, arthritis and abdominal pain. A clinical overlap between different SAIDs, may cause diagnosis uncertainty. Familial Mediterranean fever (FMF), the prototype of the autoinflammatory syndrome, is mani...
Sirs, It is now being recognised that familial Mediterranean fever (FMF) also occurs in non-Mediterranean populations, including Japanese (1). The arthritis of FMF consists of acute attacks of pain and swelling of one articulation at a time, most frequently affecting the large joints of the lower extremities within 2-3 days duration (2). In some cases, however, protracted arthritis develops, mo...
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