Currently, perforin mutations are being investigated in the onset of lymphomas, autoimmune lymphoproliferative syndrome (ALPS), and acquired aplastic anemia (Brennan et al., 2010; Buttini et al., 2015; Cappellano et al., 2008; Clementi et al., 2006; Feldmann et al., 2005; Revelo et al., 2014; Voskoboinik & Trapani, 2013). The gene discussed is PRF1; the disease is autoimmune lymphoproliferative syndrome.