Figure S4.

Adenosine deaminase activity of variants F355L, T360A, and N370K in ADA2 in the homozygous or heterozygous state. (A and E) Adenosine deaminase activity in the whole-cell lysate of HEK293T cells transfected with WT and ADA2 variants F355L, T360A, and N370K in homozygous conditions. Bar graphs represent the percentage of enzymatic activity relative to WT100% ADA2. (B and F) Adenosine deaminase activity in the supernatant of HEK293T cells transfected with WT and ADA2 variants F355L, T360A, and N370K in homozygous conditions. Bar graphs represent the percentage of enzymatic activity relative to WT100% ADA2. (C and G) Adenosine deaminase activity in the whole-cell lysate of HEK293T cells transfected with WT and/or ADA2 variants F355L, T360A, and N370K in heterozygous conditions. Bar graphs represent the percentage of enzymatic activity relative to WT50% ADA2. (D and H) Adenosine deaminase activity in the supernatant of HEK293T cells transfected with WT and/or ADA2 variants F355L, T360A, and N370K in heterozygous conditions. Bar graphs represent the percentage of enzymatic activity relative to WT50% ADA2. (A–H) Data represents the mean ± SD from three independent experiments. EV, empty vector; DN, dominant negative effect.

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