title: [Familial Mediterranean Fever: a case of dominant transmission with variable penetrance].
abstract: Familial Mediterranean Fever is an autosomal recessive disease occurring in Mediterranean and Middle Eastern populations. It is caused by mutations affecting both alleles of MEFV, a gene that encodes a neutrophil protein called pyrin. We describe a case of dominant transmission with variable penetrance.
authors.affiliation: U.O. Pediatria, Azienda Ospedaliera OCR, Sciacca (AG). mporrello@libero.it
authors.forename: M
authors.initials: M
authors.lastname: Porrello
authors.forename: C
authors.initials: C
authors.lastname: Ciaccio
authors.forename: P
authors.initials: P
authors.lastname: Gallerano
authors.forename: M
authors.initials: M
authors.lastname: Gesù
authors.forename: G
authors.initials: G
authors.lastname: Forni
authors.forename: A
authors.initials: A
authors.lastname: Mancuso
mesh_terms: D010505:Familial Mediterranean Fever / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D019683:Penetrance