Familial Mediterranean fever (FMF) is an inherited auto-inflammatory disorder. Secondary AA amyloidosis is the most devastating complication of FMF. Nonamyloid renal involvements have also been reported in association with FMF, including vasculitis, focal and diffuse glomerulonephritis, and IgA nephropathy. We describe a patient with FMF and E148Q mutation who presented with massive proteinuria...

A G to T transversion at the fifth nucleotide of the first intervening sequence (IVS-1 ) of the $-globin gene has been identified in cloned fi-thalassemia genes of two unrelated individuals. one of Mediterranean and the other of Anglo Saxon ancestry. In each patient the mutation was present in a different globin gene framework. defined by intragenic restriction site polymorphisms. thereby sugge...

This study presents a compilation of results obtained by several research groups on the mutational analysis of β thalassemia in Portugal and in Morocco, and compares the mutation/haplotype associations in both countries. We use the β thal mutations and haplotypes as genetic markers to address the question of gene flows through the Mediterranean basin area into the Iberian Peninsula and Portugal...

Introduction The inflammasome complex and the inflammatory pathway have been implicated in the pathogenesis of familial Mediterranean fever (FMF), and recently ASC (apoptosis-associated speck-like protein containing a CARD) mRNA expression was found to be up-regulated in patients carrying MEFV mutations independent of the mutation type. Gene-expression profiling has the capacity to reveal trans...

Introduction Familial mediterranean fever (FMF) is a rare monogenic disease and the prototype of autoinflammatory disorders. It is caused by mutations in the MEFV gene and is autosomal recessively inherited. Most mutations are missense substitutions, small deletions are quite rare, and only three nonsense mutation has been described (http://fmf.igh.cnrs. fr/ISSAID/infevers/). Large rearrangemen...

OBJECTIVE This study aimed to investigate the frequency in which familial Mediterranean fever (FMF) coexists with other diseases and determine whether Mediterranean fever (MEFV) gene mutations are involved in such coexistence. MATERIAL AND METHODS In total, 142 consecutive patients with FMF investigated for MEFV mutation were enrolled in this study [Female: 87; Male: 55, mean age 32±12 years ...

Familial Mediterranean fever (FMF) is an inherited disorder characterized by recurrent episodes of fever accompanied by sterile peritonitis, arthritis, and pleuritis. Many mutations in the MEFV gene have been identified as causing FMF. However, accompanying epidemiological information remains quite scarce except in some Mediterranean countries, and the degree of penetrance has been a subject of...

In northern provinces of Iran high rates of incidence of glucose-6-phosphate dehydrogenase (G6PD) enzyme deficiency have been reported and most of these patients carry one of the three common G6PD gene mutations: Mediterranean, Chatham or Cosenza. The aim of this study was to investigate prevalence of each of these mutations among neonates in Mazandaran, a northern province of Iran. Four hundre...