• N. Engl. J. Med. · Sep 2004

    Case Reports

    Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma.

    • Rita Clementi, Lorenzo Dagna, Umberto Dianzani, Loïc Dupré, Irma Dianzani, Maurilio Ponzoni, Angela Cometa, Annalisa Chiocchetti, Maria Grazia Sabbadini, Claudio Rugarli, Fabio Ciceri, Rita Maccario, Franco Locatelli, Cesare Danesino, Marina Ferrarini, and Marco Bregni.
    • Department of Biology and Medical Genetics, University of Pavia, Pavia, Italy.
    • N. Engl. J. Med. 2004 Sep 30; 351 (14): 1419-24.

    AbstractA 27-year-old man with the autoimmune lymphoproliferative syndrome and a large-B-cell lymphoma had heterozygous mutations in the Fas and perforin (Prf1) genes. The Fas mutation was inherited from his healthy father and was also carried by his healthy brother, whereas the Prf1 mutation was inherited from his healthy mother. The combined effect of the two mutant genes may have contributed to the development of the autoimmune lymphoproliferative syndrome and lymphoma in this patient.Copyright 2004 Massachusetts Medical Society

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