Ontology highlight
ABSTRACT:
SUBMITTER: Trapani JA
PROVIDER: S-EPMC3654607 | biostudies-literature | 2013 Apr
REPOSITORIES: biostudies-literature
Trapani Joseph A JA Thia Kevin Y T KY Andrews Miles M Davis Ian D ID Gedye Craig C Parente Philip P Svobodova Suzanne S Chia Jenny J Browne Kylie K Campbell Ian G IG Phillips Wayne A WA Voskoboinik Ilia I Cebon Jonathan S JS
Oncoimmunology 20130401 4
Loss-of-function mutations in the gene coding for perforin (<i>PRF1</i>) 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 <i>PRF1</i> mutations. The partial inactivation of PRF1 due to mutations that promote protein misfolding or the common hypomorphic allele coding for the A ...[more]