Journal article

Perforinopatly: a spectrum of human immune disease caused by defective perforin delivery or function

Ilia Voskoboinik, Joseph A Trapani

FRONTIERS IN IMMUNOLOGY | FRONTIERS MEDIA SA | Published : 2013

Abstract

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 scattered over the coding sequences, up to 10% of Caucasians carry the severely hypomorphic PRF1 allele C272 > T (leading to A91V mutation) and the overall prevalence of the homozygous state for A91V is a..

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Grants

Funding Acknowledgements

This work was supported by Program, Project, and Fellowship grants from the National Health and Medical Research Council (NHMRC) of Australia, and a project grant from the Cancer Council Victoria. We thank Kevin Thia for technical assistance in preparation of this manuscript.