Published in:
Open Access
01-11-2013 | Meeting abstract
PW01-024 – Phenotypic analysis of a MEFV negative FMF cohort
Authors:
A Soriano, D Rigante, L Cerrito, C Fonnesu, L Sicignano, A Gallegos, R Manna
Published in:
Pediatric Rheumatology
|
Special Issue 1/2013
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Excerpt
Familial Mediterranean fever (FMF) is an inherited autosomal recessive disorder, ethnically restricted and commonly found among individuals of Mediterranean descent, caused by MEditerranean FeVer gene (MEFV) mutations on the chromosome 16. It is the most frequent periodic febrile syndrome among autoinflammatory syndromes. Eighty % of patients with FMF have MEFV mutations, while around 20% do not have mutations. …