Familial Mediterranean fever is the result of mutations in the MEFV
gene encoding pyrin that is a regulatory component of the intracellular inflammasome complex required for the conversion of pro-interleukin (IL)-1[beta] into active IL-1[beta].
First, it establishes a functional consequence of A744S, a rare MEFV
mutation previously not linked to disease and second, it strengthens the dogma of nonfounder pyrin mutations producing a distinct clinical and prognostic disease.
One milliliter of venous blood sample was needed to evaluate MEFV
gene mutation with Vienna Lab FMF Strip Assay kit.
AAA hastalarinin Incelenen MBL geni polimorfizmleri ile cesitli klinik ozellikleri ve MEFV
mutasyonlari arasinda anlamli iliskiler bulunamadi.
Sahin et al., "A case of henoch-schonlein purpura with P369S mutation in MEFV
gene," Iranian Journal of Pediatrics, vol.
In addition to ELANE mutation, our patient had positive finding of familial Mediterranean fever (MEFV
Korkmaz, "The frequency of sacroiliitis in familial Mediterranean fever and the role of HLA-B27 and MEFV
mutations in the development of sacroiliitis," Clinical Rheumatology, vol.
gene was independently cloned by American and French groups in 1997.
Ailevi Akdeniz Atesi (FMF) MEFV
geninde mutasyon saptanmadi Serolojik tetkiklerde kompleman C3, C4 seviyesi normal, ELISA'da (Enzyme-linked immunosorbent assay) anti DS DNA sonucu, mantle!
Ishigatsubo et al., "Targeted resequencing implicates the familial Mediterranean fever gene MEFV
and the toll-like receptor 4 gene TLR4 in Behcet disease," Proceedings of the National Academy of Sciences of the United States of America, vol.
Wasslavik et al., "Reduced expression of NLRP3 and MEFV
in human ischemic heart tissue," Biochemical and Biophysical Research Communications, vol.
Pyrin, product of the MEFV
locus, interacts with the proapoptotic protein, Siva.