Table 2.
Genetics and ADA2 enzymatic activity for the 30 DADA2 patients
| Patient ID | ADA2 allele 1 | ADA2 allele 2 | ADA2 activity pre-HCT | ADA2 activity post-HCT |
|---|---|---|---|---|
| P1* | c.506G > A (p.R169Q) | c.506G > A (p.R169Q) | NA | 22.07a |
| P2 | c.(753 + 168_754-229)del | c.(1081 + 139_1082-92)del | 2b | 490b at 1y |
| P3 | c.680-681del (p.Y227fs*27) | c.680-681del (p.Y227fs*27) | NA | NA |
| P4 | c.1445 A > G (p.Y482C) | c.1445 A > G (p.Y482C) | NA | 44.38a |
| P5 | c.144del (p.R49fs) | c.47 + 2 T > C (splice site) | 0.2a | 11.7a |
| P6 | c.506G > A (p.R169Q) | c.139G > T (p.G47W) | 0.37a | 1.67 of normal |
| P7 | c.506C > T (p.R169Q) | c.2 T > C (p.M1T) | NA | NA |
| P8 | c.144delG (p.R49fs) | c.506G > A (p.R169Q) | NA | NA |
| P9 | c.506G > A (p.R169Q) | c.506G > A (p.R169Q) | 0.0a | NA |
| P10 | c.660C > A (p.Y220X) | c.660C > A (p.Y220X) | 2.5b | 403.6b at 2y |
| P11 | c.3936delG (p.R131Sfs) | c.3936delG (p.R131Sfs) | 1.2b | NA |
| P12* | c.506G > A (p.R169Q) | c.506G > A (p.R169Q) | 0.11a | 76.5b |
| P13 | c.506G > A (p.R169Q) | c.506G > A (p.R169Q) | 0b | 77.8b at 2.5 m |
| P14 | c.506G > A (p.R169Q) | c.506G > A (p.R169Q) | 0.09a | NA |
| P15 | c.1110C > A (p.N370K) | c.1072G > A (p.G358R) | 0.6a | 19.7a at 1y |
| P16 | c.506G > A (p.R169Q) | c.506G > A (p.R169Q) | NA | 8.3a at 10y |
| P17 | c.506G > A (p.R169Q) | c.932 T > G (p.L311R) | 0.3a | NA |
| P18 | c.336C > G (p.H112Q) | del exon 7 | 0.4a | 0.4 of normal |
| P19 | c.506G > A (p.R169Q) | c.336C > G (p.H112Q) | NA | NA |
| P20 | c.140G > T (p.G47V) | c.336C > G (p.H112Q) | NA | NA |
| P21 | c.934C > T (p.R312X) | c.709delC (p.Glu237fs) | 0.2a | 35.6a at 2 m |
| P22 | c.794C > G (p.S265X) | c.794C > G (p.S265X) | 0.0a | 10.8a at 1y |
| P23 | c.1367A > G (p.Y456C) | c.1196. G > A (p.W399X) | NA | 21.4a |
| P24 | c.140G > T (p.G47V) | c.140G > T (p.G47V) | NA | NA |
| P25 | c. 1072 G > A (p.G358R) | c. 1072 G > A (p.G358R) | 0.52a | NA |
| P26 | p.Lys188Pro | g.17188016_17188596del | 0a | 6a |
| P27 | c.506G > A (p.R169Q) | c.506G > A (p.R169Q) | 0.8a | 7.0a at 1y |
| P28 | c.144dupG (p.R49fs) | c.506G > A (p.R169Q) | NA | NA |
| P29* | c.506G > A (p.R169Q) | c.1072G > A (p.G358R) | NA | 22.3a |
| P30* | c.506G > A (p.R169Q) | c.1072G > A (p.G358R) | 0.3a | NA |
*Siblings (1 + 12 and 29 + 30)
aPlasma ADA2 (mU per mL): healthy controls (n = 27 + pooled normal plasma), 13.0 ± 5.1 (4.7–27.2). DADA2 patients (n = 55), 0.4 ± 0.5 (0–2.5)
bDried plasma spots ADA2 (mU/g protein): healthy controls (n = 106), 130.0 ± 53.2 (24.9–285). DADA2 patients (n = 78), 4.7 ± 4.8 (0–23.3)