KONYA BÖLGESİ’NDE MEFV GEN MUTASYONLARININ SIKLIĞI VE DAĞILIMI

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 ...

Genetic analysis of MEFV mutation negative familial Mediterranean fever for non-MEFV mutations is rarely effective

Background Systemic autoinflammatory diseases (SAIDs) are a group of diseases characterized by episodes of inflammation, usually manifested with fever and a variety of symptoms, including skin-rash, arthritis and abdominal pain. A clinical overlap between different SAIDs, may cause diagnosis uncertainty. Familial Mediterranean fever (FMF), the prototype of the autoinflammatory syndrome, is mani...

The MEFV gene and clonal myeloid disorders.

The relationship between the MEFV gene (MEFV), which is mutated in familial Mediterranean fever (FMF) disease and located on 16p13.3, and clonal myeloid disorders has been a subject of concern, and there have been studies undertaken in an effort to explain this situation1-3. In these studies, it was speculated that MEFV is a cancer susceptibility gene because the protein encoded by this gene, p...

P03-001 - PFAPA and MEFV genes

Introduction Marshall Syndrome or PFAPA is an inflammatory periodic disease characterized by periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis. Restless, headache, abdominal pain, vomiting, hepatosplenomegaly and arthralgia are less common symptoms seeing in this disease. The diagnosis is established on the basis of clinical criteria that require the presence of a recurrent...

Familial Mediterranean fever phenotype and MEFV variations.