Search

Your search keyword '"Ferrarini, Marina"' showing total 3 results
Start Over Author "Ferrarini, Marina" Journal new england journal of medicine
3 results on '"Ferrarini, Marina"'

2. Inherited Perforin andFasMutations in a Patient with Autoimmune Lymphoproliferative Syndrome and Lymphoma

Author

Clementi, Rita, primary, Dagna, Lorenzo, additional, Dianzani, Umberto, additional, Dupré, Loïc, additional, Dianzani, Irma, additional, Ponzoni, Maurilio, additional, Cometa, Angela, additional, Chiocchetti, Annalisa, additional, Sabbadini, Maria Grazia, additional, Rugarli, Claudio, additional, Ciceri, Fabio, additional, Maccario, Rita, additional, Locatelli, Franco, additional, Danesino, Cesare, additional, Ferrarini, Marina, additional, and Bregni, Marco, additional

Published
2004
Full Text
View/download PDF

3. Inherited Perforin and Fas Mutations in a Patient with Autoimmune Lymphoproliferative Syndrome and Lymphoma.

Author

Clementi, Rita, Dagna, Lorenzo, Dianzani, Umberto, Dupré, Loïc, Dianzani, Irma, Ponzoni, Maurilio, Cometa, Angela, Chiocchetti, Annalisa, Sabbadini, Maria Grazia, Rugarli, Claudio, Ciceri, Fabio, Maccario, Rita, Locatelli, Franco, Danesino, Cesare, Ferrarini, Marina, and Bregni, Marco

Subjects
*LYMPHOPROLIFERATIVE disorders, *LYMPHOMAS, *GENETICS of autoimmune diseases, *GENETIC disorders, *GENETIC mutation, *GENES, *GENETICS
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. N Engl J Med 2004;351:1419-24. [ABSTRACT FROM AUTHOR]

Published
2004
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results