MEFV mutations - therapeutic guides or red herrings?

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MEFV mutations - therapeutic guides or red herrings?

Background/question Familial Mediterranean Fever (FMF) is a hereditary inflammatory disorder characterised by self-resolving attacks of fever and serositis common in populations from Mediterranean ancestry [1]. Mutations affecting MEFV gene is believed to be responsible for the disease phenotype[1]. The correlation between the genotype and phenotype is not very strong, indicating the presence o...

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Red herrings and rotten fish

Geoffrey B. West ∗, Van M. Savage, James Gillooly, Brian J. Enquist, William. H. Woodruff, James H. Brown 1 Los Alamos National Laboratory, Los Alamos, NM 87545, USA. 2 The Santa Fe Institute, 1399 Hyde Park Road, Santa Fe, NM 87501, USA. 3 Department of Biology, University of New Mexico, Albuquerque, NM 87131, USA. 4 Department of Ecology and Evolutionary Biology, University of Arizona, Tucson...

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MEFV mutations in systemic JIA

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 ...

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MEFV mutations in Northwest of Iran: a cross sectional study

Objective(s):Familial Mediterranean Fever (FMF) is an autosomal recessive disorder characterized by recurrent episodes of fever accompanied by peritonitis, pleurisy, and arthritis. FMF affects mainly Mediterranean populations and is caused by mutations in the familial Mediterranean fever (MEFV) gene. The aim of this study was to identify the frequency and distribution of MEFV mutations in Irani...

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ژورنال

عنوان ژورنال: Pediatric Rheumatology

سال: 2015

ISSN: 1546-0096

DOI: 10.1186/1546-0096-13-s1-p129