Case Reports
doi: 10.1056/NEJMoa041432.
Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma
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- PMID: 15459303
- DOI: 10.1056/NEJMoa041432
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Case Reports
Inherited perforin and Fas mutations in a patient with autoimmune lymphoproliferative syndrome and lymphoma
N Engl J Med.
.
Free article
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.
Copyright 2004 Massachusetts Medical Society
Comment in
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Autoimmune lymphoproliferative syndrome and perforin.N Engl J Med. 2005 Jan 20;352(3):306-7; author reply 306-7. doi: 10.1056/NEJM200501203520319. N Engl J Med. 2005. PMID: 15659737 No abstract available.
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