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19) Moreover, they may influence disease course as well as disease activity, and so it is important to investigate the rate of MEFV mutations and the impact of these mutations on AS.
Several Mediterranean populations have been studied extensively for MEFV mutations, whereas data on Egyptian patients are scarce [6,7].
Familial Mediterranean fever; association of elevated IgD plasma levels with specific MEFV mutations.
Since FMF is due to the presence of the MEFV gene, PCR can be used to identify some of the more frequent mutations, these mutations are listed in Table 3.
The spectrum of MEFV clinical presentations--is it familial Mediterranean fever only?
MEFV, TNF1 rA, CARD15 and NLRP3 mutation analysis in PFAPA.
Centola M, Wood G, Frucht DM, Galon J, Aringer M, Farrell C, Kingma DW, Horwitz ME, Mansfield E, Holland SM, O'Shea JJ, Rosenberg HF, Malech, HL, Kastner DL (2000) The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators.
The identification of the MEFV gene and its various mutations has led to the application of an accessible, noninvasive, and sensitive molecular genetic test for an accurate diagnosis of FMF.