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 Society.
Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma / Clementi, R.; Dagna, L.; Dianzani, U.; Dupre, L.; Dianzani, I.; Ponzoni, M.; Cometa, A.; Chiocchetti, A.; Sabbadini, M. G.; Rugarli, C.; Ciceri, F.; Maccario, R.; Locatelli, F.; Danesino, C.; Ferrarini, M.; Bregni, M.. - In: THE NEW ENGLAND JOURNAL OF MEDICINE. - ISSN 0028-4793. - 351:14(2004), pp. 1419-1424. [10.1056/NEJMoa041432]
Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma
Locatelli F.;
2004
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 Society.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
