It is known that various MEFV
mutations are associated with PFMS, but the specific mechanisms that precipitate this syndrome are unclear.
Descriptive findings of the patients with spondylitis No Age/gender Arthritis HLA-B27 MEFV
gene Medication mutation 1 35/M + ?
Presentation of familial Mediterranean fever in a heterozygous MEFV
mutation triggered by immunosuppressive therapy for myelodysplastic syndrome.
A severe autosomal-dominant periodic inflammatory disorder with renal AA amyloidosis and colchicine resistance associated to the MEFV
H478Y variant in a Spanish kindred: an unusual familial Mediterranean fever phenotype or another MEFV
-associated periodic inflammatory disorder?
Association of clinical and genetical features in FMF with focus on MEFV
strip assay sensitivity in 452 children from western Anatolia, Turkey.
Non-founder mutations in the MEFV
gene establish this gene as the cause of familial Mediterranean fever (FMF).
They, therefore, suggested that MEFV
mutation might contribute to the development of BD.
To date, 142 mutations have been identified in the MEFV
gene, most of which are substitutions (78 of them are missense, one nonsense, 39 silent mutations, 17 are located in introns, two in UTS), one is duplication, two are insertions and two are deletions.
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.
She has been taking colchicine to treat familial Mediterranean fever (FMF) since she was 14 (a MEFV
gene mutation was present).
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
Pyrin, product of the MEFV
locus, interacts with the proapoptotic protein, Siva.