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, Marco Bregni

Risultato della ricerca: Contributo in rivistaArticolo in rivista

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.
Lingua originaleEnglish
pagine (da-a)1419-1424
Numero di pagine4
RivistaTHE NEW ENGLAND JOURNAL OF MEDICINE
Volume351
DOI
Stato di pubblicazionePubblicato - 2004

Keywords

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