Human perforin gene variation is geographically distributed

Human perforin gene variation is geographically distributed INTRODUCTIONPerforin is a pore‐forming protein expressed by cytotoxic CD8 T cells and natural killer (NK) cells and is required for cell‐mediated cytotoxicity and effective control of pathogens (van Dommelen et al., ; Tschopp & Nabholz, ; Voskoboinik, Smyth, & Trapani, ). Deleterious mutations in the perforin gene, PRF1, result in a lethal childhood disease called familial hemophagocytic lymphohistiocytosis type 2 (FHL 2) (Stepp et al., ). FHL 2 results in ineffective virus clearance and chronic inflammation that is treated with a bone marrow transplant (Risma & Jordan, ). However, there also are nondeleterious mutations in PRF1 present at measurable frequency, which reduce perforin activity, that do not necessarily result in FHL 2 (Zur Stadt et al., ). The biological relevance of the natural heterogeneity in the human perforin gene is not understood. One leading hypothesis is that specific nondeleterious perforin mutations predispose individuals to other immunodeficient or autoimmune diseases called perforinopathies (Brennan, Chia, Trapani, & Voskoboinik, ; Voskoboinik & Trapani, ; Voskoboinik et al., ). Currently, perforin mutations are being investigated in the onset of lymphomas, autoimmune lymphoproliferative syndrome (ALPS), and acquired aplastic anemia (Brennan et al., ; Buttini et al., ; Cappellano et al., ; Clementi et al., ; Feldmann et al., ; Revelo et al., ; Voskoboinik http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Molecular Genetics & Genomic Medicine Wiley

Human perforin gene variation is geographically distributed

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Publisher
Wiley Subscription Services, Inc., A Wiley Company
Copyright
Copyright © 2018 John Wiley & Sons Ltd.
ISSN
2324-9269
eISSN
2324-9269
D.O.I.
10.1002/mgg3.344
Publisher site
See Article on Publisher Site

Abstract

INTRODUCTIONPerforin is a pore‐forming protein expressed by cytotoxic CD8 T cells and natural killer (NK) cells and is required for cell‐mediated cytotoxicity and effective control of pathogens (van Dommelen et al., ; Tschopp & Nabholz, ; Voskoboinik, Smyth, & Trapani, ). Deleterious mutations in the perforin gene, PRF1, result in a lethal childhood disease called familial hemophagocytic lymphohistiocytosis type 2 (FHL 2) (Stepp et al., ). FHL 2 results in ineffective virus clearance and chronic inflammation that is treated with a bone marrow transplant (Risma & Jordan, ). However, there also are nondeleterious mutations in PRF1 present at measurable frequency, which reduce perforin activity, that do not necessarily result in FHL 2 (Zur Stadt et al., ). The biological relevance of the natural heterogeneity in the human perforin gene is not understood. One leading hypothesis is that specific nondeleterious perforin mutations predispose individuals to other immunodeficient or autoimmune diseases called perforinopathies (Brennan, Chia, Trapani, & Voskoboinik, ; Voskoboinik & Trapani, ; Voskoboinik et al., ). Currently, perforin mutations are being investigated in the onset of lymphomas, autoimmune lymphoproliferative syndrome (ALPS), and acquired aplastic anemia (Brennan et al., ; Buttini et al., ; Cappellano et al., ; Clementi et al., ; Feldmann et al., ; Revelo et al., ; Voskoboinik

Journal

Molecular Genetics & Genomic MedicineWiley

Published: Jan 1, 2018

Keywords: ; ; ;

References

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