Figure 3.
Intracellular perforin expression in patient-derived A91V/pLOF CD3−CD56+ NK cells. (A) Flow cytometry dot plots of perforin expression levels in CD3−CD56+ NK cells with different PRF1 genotypes. First row: PRF1 WT, A91V/WT, and A91V/A91V carriers. Second row: homozygous PRF1 “null” variants (pLOF/pLOF null). Third row: PRF1 A91V/pLOF genotypes. Fourth row: homozygous PRF1 hypomorphic variants (pLOF/pLOF hypomorphic). Perforin mean fluorescence intensity (MFI) is shown in blue, age of onset of clinical manifestations and phenotype is shown in red below the panels. (B) Perforin MFI for different PRF1 genotypes. Percentile 5, 25, 75, and 95 of perforin expression in 120 nonsequenced healthy controls are indicated by gray areas. Filled circles, asymptomatic individuals; empty circles, symptomatic individuals. Ordinary 1-way analysis of variance of perforin MFI between healthy controls and PRF1 variant carriers (∗∗P < .01; ∗∗∗P < .001; ∗∗∗∗P < .0001).

Intracellular perforin expression in patient-derived A91V/pLOF CD3−CD56+ NK cells. (A) Flow cytometry dot plots of perforin expression levels in CD3−CD56+ NK cells with different PRF1 genotypes. First row: PRF1 WT, A91V/WT, and A91V/A91V carriers. Second row: homozygous PRF1 “null” variants (pLOF/pLOF null). Third row: PRF1 A91V/pLOF genotypes. Fourth row: homozygous PRF1 hypomorphic variants (pLOF/pLOF hypomorphic). Perforin mean fluorescence intensity (MFI) is shown in blue, age of onset of clinical manifestations and phenotype is shown in red below the panels. (B) Perforin MFI for different PRF1 genotypes. Percentile 5, 25, 75, and 95 of perforin expression in 120 nonsequenced healthy controls are indicated by gray areas. Filled circles, asymptomatic individuals; empty circles, symptomatic individuals. Ordinary 1-way analysis of variance of perforin MFI between healthy controls and PRF1 variant carriers (∗∗P < .01; ∗∗∗P < .001; ∗∗∗∗P < .0001).

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