Fig. 3: FAS-mediated apoptosis assay on SEE and CD3/CD28 T blasts generated from included subjects.

Results of FAS-mediated apoptosis assay with optimal dosage (100 ng/ml) of the FAS agonist Apo1.3 was performed both on SEE-stimulated (A, C) and CD3/CD28-stimulated (B, D) T blasts. Results of one independent experiment for each condition performed in triplicate was depicted (A, B) and the global data obtained for each genetic conditions expressed as the percentage of apoptosis in healthy controls were used to calculate the median with interquartile range depicted in C and D. Patients affected by ALPS due to mutations in FAS extracellular (ECD) or intracellular domains (ICD) were used as positive controls of apoptosis defect. Plotted data in C and D are representative of two independent experiments on SEE T and CD3/CD28 T blasts. HMZ homozygous, HTZ heterozygous.