Introduction Familial Mediterranean fever (FMF) is an autosomal recessive disease, mainly affecting Jews, Armenians, Turks, Arabs and other groups living around Mediterranean basin. Major symptoms of disease are recurrent periodic fever accompained by serositis. The disease is usually diagnosed at ages less than 20 years. Onset of the disease atolder age can rarely occur. Symptoms related to FM...

Background: Familial Mediterranean fever (FMF) is an autoinflammatory genetic disorder that associated with different mutations. Frequency of clinical manifestation differs according to age group, geographic region and ethnic population. Objectives: To study the FMF in relation genotype (M680I, M694V, M694I V726A). Result: The main presentation studied group was abdominal pain 65.9% (203), foll...

Introduction Familial Mediterranean Fever ( FMF ) is an autosomal recessive inherited disease mostly wide spread in the Mediterranean basin. It is manifested by a fever associated with paroxystic painful attacks. The prognosis is determined by the occurrence of renal amyloidosis. The purpose of our work is to establish a genotypephenotype correlation between the MEFV gene mutation and the expre...

Sir, Familial Mediterranean fever (FMF) is an auto-inflammatory disease with an autosomal recessive inheritance. Defects in the protein pyrin cause the characteristic attacks of the disease. 1,2 More than 20 mutations have been identified in the gene coding pyrin. Booth et al. 3 recently presented their studies in an interesting mutation, the E148Q mutation, in different populations. They have ...

Glucose-6-phosphate dehydrogenase deficiency is a common hemolytic genetic disorder, particularly in the areas endemic to malaria. The risk of drug induced Glucose-6-phosphate dehydrogenase deficiency related hemolysis depends on a number of factors including the Glucose-6-phosphate dehydrogenase variant. Aims: To know the G6PD deficiency and identify its variants in drug induced hemolysis in m...

INTRODUCTION Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease characterized by recurrent self-limiting fever and serositis that mainly affects Mediterranean populations. Many patients with FMF have been reported in Japan due to increasing recognition of this condition and the availability of genetic analysis for the gene responsible, MEFV. The present study was perfor...

Background. Eosinophilic esophagitis is an inflammatory condition where there is a dense infiltration of eosinophils typically exceeding fifteen cells per high power field. Familial Mediterranean fever is an autosomal recessive disorder characterized by brief, acute, and self-limited episodes of fever and polyserositis that recur at irregular intervals. Case Presentation. A three-year-and-nine-...

glucose-6-phosphate dehydrogenase (g6pd) is a cytosolic enzyme which its main function is to produce nadph in the red blood cells by controlling the step from glucose-6-phosphate to 6-phospho gluconate in the pentose phosphate pathway. g6pd deficiency is the most common x-chromosome linked hereditary enzymopathy in the world, that result in reduced enzyme activity and more than 125 different mu...

INTRODUCTION Familial Mediterranean fever (FMF) is the most common auto-inflammatory disease with monogenic (MEditerranean FeVer -MEFV- gene) inherited pattern. It mainly affects ethnic groups living along the eastern Mediterranean Sea: Turks, Sephardic Jews, Armenians, and Arabs [1]. Today FMF is not rare disease in other Mediterranean ethnicities, such as Greeks, Italians, and Iranians. CAS...