MEFV


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MEFV

A gene on chromosome 16p13.3 of the RetRo gene family that encodes pyrin or marenostrin, an important modulator of innate immunity, which is thought to control the inflammatory response in myelomonocytic cells at the level of the cytoskeleton.

Molecular pathology
Defects in MEFV cause Familial Mediterranean fever, both the autosomal dominant and autosomal recessive forms.
References in periodicals archive ?
8) that investigated the potential causes of FMF attacks, they found a relationship between the MEFV mutations and the triggering factors in which the M694V allele was associated with starvation while the V726A allele was associated with long-duration travel.
The MEFV gene is localized at the lesser arm of the 16th chromosome, and mutations in this gene have been reported.
Clinical and subclinical inflammation in patients with familial Mediterranean fever and in heterozygous carriers of MEFV mutations.
1] It is, however, still a matter of debate whether MEFV mutations have a role in the development of BD.
By definition, anyone with two copies of MEFV mutations is considered to have FMF.
An additional advantage of plotting tidal breaths over the MEFV curve is that dynamic hyperinflation can be detected as a decreasing IC with exercise ([V.
FMF is caused by mutations in the MEFV gene which encodes the anti-inflammatory pyrin protein.
MEFV provides instructions for the cellular production of a protein named pyrin, also known as marenostrin.
However, as said, the seeding work of two consortia from the United States and Europe did not include diseased controls, (16,17) and it shortly became apparent that MEFV mutations were not specific for FMF.
Yalnizca Israil'de yapilan bir calismada PFAPA'li hastalarda MEFV geninde heterozigot mutasyonlarin yuksek oranda goruldugu bildirilmistir (9).
An improved electronic microarray-based diagnostic assay for identification of MEFV mutations.