Inherited Perforin andFasMutations in a Patient with Autoimmune Lymphoproliferative Syndrome and Lymphoma
- 30 September 2004
- journal article
- case report
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 351 (14) , 1419-1424
- https://doi.org/10.1056/nejmoa041432
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.Keywords
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