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.

Clementi, R., Dagna, L., Dianzani, U., Dupré, 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., Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma, <<THE NEW ENGLAND JOURNAL OF MEDICINE>>, 2004; 351 (14): 1419-1424. [doi:10.1056/NEJMoa041432] [https://hdl.handle.net/10807/260370]

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

Locatelli, Franco;
2004

Abstract

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.
2004
Inglese
Clementi, R., Dagna, L., Dianzani, U., Dupré, 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., Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma, <<THE NEW ENGLAND JOURNAL OF MEDICINE>>, 2004; 351 (14): 1419-1424. [doi:10.1056/NEJMoa041432] [https://hdl.handle.net/10807/260370]
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/260370
Citazioni
  • ???jsp.display-item.citation.pmc??? 23
  • Scopus ND
  • ???jsp.display-item.citation.isi??? 51
social impact