[Familial Mediterranean Fever: a case of dominant transmission with variable penetrance].
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.
Porrello
M
M
U.O. Pediatria, Azienda Ospedaliera OCR, Sciacca (AG). mporrello@libero.it
Ciaccio
C
C
Gallerano
P
P
Gesù
M
M
Forni
G
G
Mancuso
A
A
D010505:Familial Mediterranean Fever / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D019683:Penetrance