Article
Variations of the perforin gene in patients with multiple sclerosis.
Genes and immunity - 1 Jul 2008
Cappellano G, Orilieri E, Comi C, Chiocchetti A, Bocca S, Boggio E, Bernardone I S, Cometa A, Clementi R, Barizzone N, D'Alfonso S, Corrado L, Galimberti D, Scarpini E, Guerini F R, Caputo D, Paolicelli D, Trojano M, Figà-Talamanca L, Salvetti M, Perla F, Leone M, Monaco F, Dianzani U
Abstract excerpt
Perforin is involved in cell-mediated cytotoxicity and mutations of its gene (PRF1) cause familial hemophagocytic lymphohistiocytosis (FLH2). PRF1 sequencing in 190 patients with multiple sclerosis and 268 controls detected two FLH2-associated variations (A91V, N252S) in both groups and six novel mutations (C999T, G1065A, G1428A, A1620G, G719A, C1069T) in patients. All together, carriers of these variations were...
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