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Human perforin mutations and susceptibility to multiple primary cancers

1 Apr 2013

Abstract excerpt

Loss-of-function mutations in the gene coding for perforin (PRF1) markedly reduce the ability of cytotoxic T lymphocytes and natural killer cells to kill target cells, causing immunosuppression and impairing immune regulation. In humans, nearly half of the cases of type 2 familial hemophagocytic lymphohistiocytosis are due to bi-allelic PRF1 mutations. The partial inactivation of PRF1 due to mutations that...

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PMID: 23734337
DOI: 10.4161/onci.24185

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