TY - JOUR
T1 - Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma
AU - Clementi, Rita
AU - Dagna, Lorenzo
AU - Dianzani, Umberto
AU - Dupré, Loïc
AU - Dianzani, Irma
AU - Ponzoni, Maurilio
AU - Cometa, Angela
AU - Chiocchetti, Annalisa
AU - Sabbadini, Maria Grazia
AU - Rugarli, Claudio
AU - Ciceri, Fabio
AU - Maccario, Rita
AU - Locatelli, Franco
AU - Danesino, Cesare
AU - Ferrarini, Marina
AU - Bregni, Marco
PY - 2004/9/30
Y1 - 2004/9/30
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=4644229431&partnerID=8YFLogxK
U2 - 10.1056/NEJMoa041432
DO - 10.1056/NEJMoa041432
M3 - Article
SN - 0028-4793
VL - 351
SP - 1419
EP - 1424
JO - New England Journal of Medicine
JF - New England Journal of Medicine
IS - 14
ER -