The possible heterozygote advantage of MEFV mutations against brucellosis may therefore be a balanced polymorphism, analogous to the protective effect against malaria that maintains high levels of sickle cell trait in sub-Saharan Africa.
To date, there is no study in the literature about how to follow-up Mediterranean fever (MEFV) heterozygotes who do not fulfil FMF criteria in the paediatric age group.
The diagnostic value of molecular analysis of the familial Mediterranean fever (FMF) gene (Mediterranean fever (MEFV)) has been well established only in patients selected on the basis of ethnic background or clinical criteria.
The frequency of MEFV gene mutation in patients admitted to hospital with preliminary diagnosis of familian mediterranean fever who undergone a prior appendectomy.
This study assessed whether a rare variant, found in Japanese children showing atypical autoinflammatory syndrome, located in the leucine-rich repeat domain of Nod-like receptor family, pyrin domain containing 3 (NLRP3) with co-existence of Mediterranean fever (MEFV) haplotype variants may contribute to a proinflammatory phenotype using a systematic approach.
Here, we show that 243 bp of the 5'-flanking region of the human MEFV gene are sufficient to direct high level expression of MEFV in TNFalpha-treated cells.
To test the hypothesis that alterations in the Mediterranean fever (MEFV) gene are a susceptibility factor for the development of polyarteritis nodosa (PAN) we investigated the prevalence of MEFV mutations in patients with PAN without any symptoms of familial Mediterranean fever (FMF).
The gene responsible for familial Mediterranean Fever (FMF), MEditerranean FeVer (MEFV), was identified two decades ago; however, only recent studies have shed light on its pathogenesis.
Odds ratio (OR) with 95% confidence interval (CI) was calculated to assess the association between MEFV gene polymorphisms and AS incidence.The frequency of the G allele of MEFV polymorphism rs3743930 in the AS group was significantly higher than that in the healthy control group (36.64% vs 28.35%, P < .05).
Mutated pyrin is associated with the loss of delicate control of the inflammatory pathways, which results in a prolonged or augmented inflammation that predisposes these patients and carriers of the MEFV mutation to a pro-inflammatory state.
A mutation search was performed in the MEFV (Mediterranean fever) and tumor necrosis factor receptor 1 (TNFR1 or TNFRSF1A) genes causing familial Mediterranean fever (FMF) and tumor necrosis factor receptor-associated periodic syndrome (TRAPS), respectively.
We aimed to define the characteristics of FMF patients heterozygous for MEFV (MEditerranean FeVer) mutations in whom colchicine was stopped after a period of treatment, with close follow-up.
Familial Mediterranean fever (FMF) is an IL-1β-dependent autoinflammatory disease caused by mutations of Mediterranean fever (MEFV) encoding pyrin and characterized by inflammatory attacks induced by physical or psychological stress.
Brucellosis, known as Malta fever or Mediterranean fever, is one of the most common bacterial zoonotic diseases caused by Brucella spp. which can result in serious health issues.