Fig. 8

Diagnostic accuracy of perforin/SAP/XIAP expression for the presence of genetic abnormalities in patients with HLH. Determination of sensitivity, specificity, PPV, and NPV for low or absent (a) perforin expression to distinguish FHL-2 from all other PRF1 sequencing results; (b) perforin expression to distinguish FHL-2 from normal PRF1 sequencing results; (c) SAP expression to distinguish patients with abnormal SH2D1A sequencing results from normal ones; and (d) XIAP expression to distinguish patients with abnormal XIAP/BIRC4 sequencing results from normal ones. PPV, positive predictive value; NPV, negative predictive value