Genetic and biochemical basis for diagnosis of the 14 DADA2 patients
| Patient ID . | CECR1 allele 1 . | CECR1 allele 2 . | ADA2 activity pre-HSCT . | ADA2 activity post-HSCT . |
|---|---|---|---|---|
| P001 | c.1110C>A (p.N370K) | c.1072G>A (p.G358R) | 0.6* | 19.7 at 1 y* |
| P002 | c.794C>G (p.S265X) | c.794C>G (p.S265X) | 0.0* | 10.8 at 1 y* |
| P003 | c.660C>A (p.Y220X) | c.660C>A (p.Y220X) | 2.5† | NA |
| P004 | c.506G>A (p.R169Q) | c.506G>A (p.R169Q) | 0.8* | 7.0 at 1 y* |
| P005 | c.144delG (p.R49fs) | c.506G>A (p.R169Q) | NA | NA |
| P006 | c.144dupG (p.R49fs) | c.506G>A (p.R169Q) | NA | NA |
| P007 | c.506G>A (p.R169Q) | c.506G>A (p.R169Q) | NA | 15.3 at 3 mo* |
| P008‡ | c.506G>A (p.R169Q) | c.506G>A (p.R169Q) | NA | 22.07* |
| P009‡ | c.506G>A (p.R169Q) | c.506G>A (p.R169Q) | 0.11* | NA |
| P010 | c.506C>T (p.R169Q) | c.2T>C (p.M1T) | NA | NA |
| P011 | c.506G>A (p.R169Q) | c.506G>A (p.R169Q) | NA | NA |
| P012 | c.140G>T (p.G47V) | c.336C>G (p.H112Q) | NA | NA |
| P013 | c.144del (p.R49fs) | c.47+2T>C (splice site) | 0.2* | 11.7* |
| P014 | c.506G>A (p.R169Q) | c.1072G>A (p.G358R) | NA | 22.3* |
| Patient ID . | CECR1 allele 1 . | CECR1 allele 2 . | ADA2 activity pre-HSCT . | ADA2 activity post-HSCT . |
|---|---|---|---|---|
| P001 | c.1110C>A (p.N370K) | c.1072G>A (p.G358R) | 0.6* | 19.7 at 1 y* |
| P002 | c.794C>G (p.S265X) | c.794C>G (p.S265X) | 0.0* | 10.8 at 1 y* |
| P003 | c.660C>A (p.Y220X) | c.660C>A (p.Y220X) | 2.5† | NA |
| P004 | c.506G>A (p.R169Q) | c.506G>A (p.R169Q) | 0.8* | 7.0 at 1 y* |
| P005 | c.144delG (p.R49fs) | c.506G>A (p.R169Q) | NA | NA |
| P006 | c.144dupG (p.R49fs) | c.506G>A (p.R169Q) | NA | NA |
| P007 | c.506G>A (p.R169Q) | c.506G>A (p.R169Q) | NA | 15.3 at 3 mo* |
| P008‡ | c.506G>A (p.R169Q) | c.506G>A (p.R169Q) | NA | 22.07* |
| P009‡ | c.506G>A (p.R169Q) | c.506G>A (p.R169Q) | 0.11* | NA |
| P010 | c.506C>T (p.R169Q) | c.2T>C (p.M1T) | NA | NA |
| P011 | c.506G>A (p.R169Q) | c.506G>A (p.R169Q) | NA | NA |
| P012 | c.140G>T (p.G47V) | c.336C>G (p.H112Q) | NA | NA |
| P013 | c.144del (p.R49fs) | c.47+2T>C (splice site) | 0.2* | 11.7* |
| P014 | c.506G>A (p.R169Q) | c.1072G>A (p.G358R) | NA | 22.3* |