Perforinopathy: A Spectrum of Human Immune Disease Caused by Defective Perforin Delivery or Function

@inproceedings{Voskoboinik2013PerforinopathyAS,
  title={Perforinopathy: A Spectrum of Human Immune Disease Caused by Defective Perforin Delivery or Function},
  author={Ilia Voskoboinik and Joseph A. Trapani},
  booktitle={Front. Immunol.},
  year={2013}
}
Congenital perforin deficiency is considered a rare cause of human immunopathology and immune dysregulation, and classically presents as a fatal illness early in infancy. However, we propose that a group of related disorders in which killer lymphocytes deliver only partially active perforin or a reduced quantum of wild-type perforin to the immune synapse should be considered part of an extended syndrome with overlapping but more variable clinical features. Apart from the many rare mutations… CONTINUE READING
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