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6) described a case of colchicine-responsive CRMO with Mediterranean fever (MEFV) gene mutations and implied that the MEFV gene might be associated with CRMO.
In addition to the clinical and laboratory features, our patient fulfilled other criteria with the presence of the MEFV mutation and his dramatic response to the corticosteroid treatment, both of which led to the diagnosis of PFMS and FMF.
An analysis of the MEFV gene was performed on 27 patients, and the M696V mutation was the one that was most frequently seen (Table 3).
3) analyzed 193 AS patients and 103 healthy controls and concluded that MEFV mutations occur significantly more often in patients with AS.
20] Thereby, any mutation of the MEFV gene leads to the synthesis of abnormal pyrin protein, and inflammation is not efficiently inhibited.
Common MEFV mutation analysis in 36 Iranian patients with familial Mediterranean fever: clinical and demographic significance.
The gene for familial Mediterranean fever, MEFV, is expressed in early leukocyte development and is regulated in response to inflammatory mediators.
Molecular analysis was performed by sequencing of exon 2, 3, 5, and 10 of MEFV gene.
The MEFV gene was independently cloned by American and French groups in 1997.
Previous publications have suggested that mutations of the MEFV gene were involved in the pathogenesis of patients with HLA-B27 negative ankylosing spondylitis (AS).
The first, familial Mediterranean fever (FMF), also known as Armenian disease, results from a mutation in the MEFV gene and occurs among those of Sephardic and Ashkenazi Jewish, Middle Eastern Arab, Armenian, Italian, North African or Turkish ethnicities.