Clinical presentation and genotypic classification of 194 WAS patients who underwent HCT from 1980 to 2009
| Patient characteristics/group . | N (%) . |
|---|---|
| Clinical score at HSCT (N = 194) | |
| < 3 | 27 (13.9) |
| 3 or 4 | 110 (56.7) |
| 5 | 57 (29.4) |
| Mutations identified (N = 135) | |
| Frameshift/nonsense | 81 (60.0) |
| Missense | 26 (19.3) |
| Splice sites | 19 (14.1) |
| Large deletions | 6 (4.4) |
| In-frame ins/del | 3 (2.2) |
| Age at transplantation, y (N = 194) | |
| Younger than 2 | 119 (61.3) |
| 2-5 | 43 (22.2) |
| Older than 5 | 32 (16.5) |
| Patient characteristics/group . | N (%) . |
|---|---|
| Clinical score at HSCT (N = 194) | |
| < 3 | 27 (13.9) |
| 3 or 4 | 110 (56.7) |
| 5 | 57 (29.4) |
| Mutations identified (N = 135) | |
| Frameshift/nonsense | 81 (60.0) |
| Missense | 26 (19.3) |
| Splice sites | 19 (14.1) |
| Large deletions | 6 (4.4) |
| In-frame ins/del | 3 (2.2) |
| Age at transplantation, y (N = 194) | |
| Younger than 2 | 119 (61.3) |
| 2-5 | 43 (22.2) |
| Older than 5 | 32 (16.5) |