Introduction Pyrin protein is the product of the MEFV gene, mutations in which cause the manifestation of Familial Mediterranean Fever (FMF). Complete tertiary structure of pyrin and the effects of mutations on it are still experimentally not studied. Mutations E148Q, M680I, M694V, M694I, V726A, A744S and R761H of pyrin induce manifestation of the most widespread and severe forms of FMF. One st...

Familial Mediterranean fever (FMF) is an autosomal recessive disorder characterized by fever and serosal inflammation. The reasons for the disorder are mutations in the Mediterranean fever (MEFV) gene; the most common of which are M694V, M680I, M694I and V726A. In this study, we aimed to screen these common mutations of the MEFV gene and then determine the prevalence of FMF according to these m...

Background Familial Mediterranean fever (FMF) is an autoinflammatory disorder that mostly affects people of Middle Eastern and descent, characterized by recurrent self-limiting episodes fever, serositis, arthritis etc. Although many studies in scope the connection MEFV gene variants clinical manifestation have been carried out since discovery gene, there not yet detail data about Armenian popul...

BACKGROUND Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurring attacks of fever and serositis. The definition of the mutated gene has allowed molecular diagnosis of the disease. The most important complication of FMF is the development of AA type secondary amyloidosis. In a group of patients clinically designated as phenotype II amyloidosis patients, ...

OBJECTIVE To describe the spectrum of genetic mutations in patients with clinical diagnosis of Familial Mediterranean Fever. METHOD This is a retrospective study of 3359 sera samples for patient with clinical diagnosis of FMF, over a period of 6 years. The samples were tested for 12 mutations of the MEFV gene by PCR& hybridization of the PCR product with Probes immobilized as an array of pane...

OBJECTIVE The aim of this study was to investigate the spectrum of Mediterranean fever (MEFV) gene mutations and genotype-phenotype correlation in children with familial Mediterranean fever (FMF) in southeast Turkey. METHODS A total of 507 children (274 females) with FMF and MEFV gene mutation(s) were included. A 15-year retrospective evaluation was conducted; parameters analyzed were: age, s...

OBJECTIVES To identify the frequency and distribution of familial Mediterranean fever (FMF) gene (MEFV) mutations among Azeri Turkish patients from northwestern Iran. METHODS One hundred ninety unrelated patients were referred by specialists to the Molecular-Medical Genetic Center of Tabriz. A clinical diagnosis of FMF was made according to published criteria. Mutation screening of the MEFV g...

Results Among 317 patients; 18 (7 females, 11 males) were enrolled. Consanguinity and family history of FMF were present in 28% and 56% of the patients, respectively. Clinical features seemed to be similar to general FMF patients; however, 50% of the patients were fussy children. The diagnosis of FMF was significantly delayed; the mean age at onset of therapy was 65.44 + 43.75 months. 38% of th...

Results A 4 years old girl was admitted because of right hip pain. When she was 1 year old was diagnosed with Crohn’s disease and taken sulfasalazine and corticosteroid. She had septic arthritis in her right hip one year ago. On admission, we have found pain and limitation in right hip. Also she was growth retardation. In her laboratory findings, acute phase reactants were elevated (white blood...

Results The median age of onset was 12 months, with a maleto-female ratio of 1,6:1. The length of fever attacks ranged between 2-8 days, and symptom-free intervals between 10-45 days. The most common associated symptoms were pharyngitis (100%), abdominal pain (45,1%), aphthous stomatitis (43,7%), and cervical lymphadenitis (32,4%). During fever flares, the leukocyte count and acute phase reacta...