| Literature DB >> 15459303 |
Rita Clementi1, 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, Marco Bregni.
Abstract
A 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 SocietyEntities:
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Year: 2004 PMID： 15459303 DOI： 10.1056/NEJMoa041432
Source DB: PubMed Journal: N Engl J Med ISSN： 0028-4793 Impact factor: 91.245