The M694V mutation in Armenian-Americans: a 10-year retrospective study ofMEFVmutation testing for familial Mediterranean fever at UCLA

The M694V mutation in Armenian-Americans: a 10-year retrospective study of MEFV mutation testing for familial Mediterranean fever at UCLA.

Familial Mediterranean fever (FMF), inherited in an autosomal recessive manner, is a systemic auto-inflammatory disorder characterized by recurrent attacks of fever with peritonitis, pleuritis, synovitis and erysipeloid rash. The marenostrin-encoding fever (MEFV) gene, located on chromosome 16p13.3, is the only gene in which mutations are currently known to cause FMF. To correlate specific geno...

FAMILIAL MEDITERRANEAN FEVER: A STUDY OF 32 CASES

From April 1983 to September 1990, 32 patients with familial mediterranean fever (FMF) were studied. FMF is characterized by short, self-limited, febrile episodes that occur with inflammation of serosal surfaces. Major symptoms include fever and abdominal pain, presenting as acute surgical abdomen. These attacks are associated with considerable morbidity and in some patients lead to unnece...

Pyrin Q148 mutation and familial Mediterranean fever.

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 ...

M680I(Arm2)/M694V(Med) mutations in a patient with familial Mediterranean fever and polyarteritis nodosa.

Standardized testing for mutations in familial Mediterranean fever.

Familial Mediterranean fever (FMF) is an autoinflammatory disease mainly affecting populations surrounding the Mediterranean basin, with a genetic prevalence reaching 1–6% (1 ). Patients suffer from seemingly unprovoked bouts of fever, peritonitis, and arthritis, which resolve spontaneously. FMF has long been recognized as the sole “periodic fever”. Diagnosis often took years to establish after...