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
Molecular Genetics & Genomic Medicine – Wiley
Published: Jan 1, 2018
Keywords: ; ; ;
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