Expression and secretion of ADA2 dimers in the homozygous or heterozygous state on a nondenaturing gel. (A) ADA2 dimer expression of HEK293T cells transfected with WT and/or ADA2 variants. Cells were collected 48 h after transfection. A protein smear indicative of ADA2-containing aggregates is observed across the blot lane. (B) ADA2 dimer secretion of HEK293T cells transfected with WT and/or ADA2 variants. The supernatant was collected 48 h after transfection. (C) Quantification of ADA2 secretion in the supernatant of HEK293T cells transfected with WT ADA2 or ADA2 variants in homozygous conditions. Bar graphs represent the percentage of ADA2 protein secretion relative to WT100% ADA2. (D) Quantification of ADA2 secretion of cotransfected HEK293T cells of ADA2 variants together with WT ADA2 in heterozygous conditions. Bar graphs represent the percentage of ADA2 secretion relative to WT50% ADA2 experiments. (A–D) Image shown represents three independent experiments. EV, empty vector. Source data are available for this figure: SourceData F4.