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Article

Inherited Perforin and<i>Fas</i>Mutations in a Patient with Autoimmune Lymphoproliferative Syndrome and Lymphoma

30 Sept 2004

Abstract excerpt

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...

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Identifiers

PMID: 15459303
DOI: 10.1056/nejmoa041432

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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