Demographic and disease characteristics HPC mutation burden cohort
| Characteristic . | Normal (N = 6) . | SCN (N = 11) . | SDS (N = 2) . |
|---|---|---|---|
| Age, y | |||
| Mean ± SD | 17.7 ± 4.4 | 16.6 ± 7.9 | 7.0 ± 7.1 |
| Median (range) | 20 (9-20) | 15.5 (6-36) | 7.0 (2-12) |
| Female sex, n (%) | 2 (33.3) | 5 (45.4) | 1 (50) |
| G-CSF treatment, n (%)* | 0 (0) | 10 (100) | 0 (0) |
| ANC per mm3† | |||
| Mean ± SD | na | 62 ± 99 | 1170 ± 1198 |
| Median (range) | na | 0 (0-300) | 1170 (330-2020) |
| ELANE mutation, n (%)‡ | na | 10 (100) | na |
| SBDS mutation, n (%) | na | na | 2 (100) |
| Characteristic . | Normal (N = 6) . | SCN (N = 11) . | SDS (N = 2) . |
|---|---|---|---|
| Age, y | |||
| Mean ± SD | 17.7 ± 4.4 | 16.6 ± 7.9 | 7.0 ± 7.1 |
| Median (range) | 20 (9-20) | 15.5 (6-36) | 7.0 (2-12) |
| Female sex, n (%) | 2 (33.3) | 5 (45.4) | 1 (50) |
| G-CSF treatment, n (%)* | 0 (0) | 10 (100) | 0 (0) |
| ANC per mm3† | |||
| Mean ± SD | na | 62 ± 99 | 1170 ± 1198 |
| Median (range) | na | 0 (0-300) | 1170 (330-2020) |
| ELANE mutation, n (%)‡ | na | 10 (100) | na |
| SBDS mutation, n (%) | na | na | 2 (100) |
ANC obtained prior to G-CSF therapy is shown. Percentage of patients with germ line heterozygous ELANE or biallelic SBDS mutations is shown.
na, not available; SD, standard deviation.
Data not available for 1 patient with SCN.
Data not available for 2 patients with SCN.
Data not available for 1 patient with SCN.