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Missense mutations in the perforin (<i>PRF1</i>) gene as a cause of hereditary cancer predisposition

2 Jun 2016

Abstract excerpt

Perforin, a pore-forming toxin released from secretory granules of NK cells and CTLs, is essential for their cytotoxic activity against infected or cancerous target cells. Bi-allelic loss-of-function mutations in the perforin gene are invariably associated with a fatal immunoregulatory disorder, familial haemophagocytic lymphohistiocytosis type 2 (FHL2), in infants. More recently, it has also been recognized that...

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PMID: 27622035
DOI: 10.1080/2162402x.2016.1179415

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