Figure 5.
The process starts with 48 patients. Two patients are separated out: one with no variant and one with a monoallelic variant. Of the remaining 46 patients with biallelic ADA2 variants, 20 have variant ADA2 activity not described in Lee et al. 2020. The other 26 patients have biallelic ADA2 variants classifiable according to Lee et al. 2020. Out of these, 10 patients have unavailable ADA2 activity measurements. The final group consists of 16 patients with biallelic ADA2 variants classifiable according to Lee et al. 2020 and available ADA2 enzymatic activity measurements.
Classification algorithm for the correlation of patient and variant ADA2 activity. Allele classification according to Lee et al. (13) and correlation to patients’ (ex vivo) ADA2 enzymatic activity. The 16 final patients could be analyzed for correlation of their (ex vivo) ADA2 activity and the ADA2 activity of their genetic variants (13).