Table 3.
Patient characteristics
| Patient ID a | Ageb/sex | SBDS mutations |
|---|---|---|
| 1 | 6/M | c.183_184delTAinsCT/c.258 + 2 T > C |
| 2 | 4/M | c.258 + 2 T > C/c.258 + 2 T > C |
| 3 | 20/F | c.183_184delTAinsCT/c.258 + 2 T > C |
| 4 | 5/M | c.183_184delTAinsCT/c.258 + 2 T > C |
| 5 | 11/M | c.170 T > C/258 + 2 T > C |
| 6 | 14/M | c.258 + 2 T > C/c.258 + 2 T > C |
| 7 | 29/M | c.183_184delTAinsCT/c.258 + 2 T > C |
| 8 | 16/M | c.183_184delTAinsCT/c.258 + 2 T > C |
| 9 | 11, 19/M | c.183_184delTAinsCT + 258 + 2 T > C/258 + 2 T > C |
| 10 | 13, 16/F | c.183_184delTAinsCT/c.258 + 2 T > C |
| 11 | 15/F | c.183_184delTAinsCT/c.258 + 2 T > C |
| 12 | M | c.183_184delTAinsCT/c.258 + 2 T > C |
| 13 | 13, 14/M | c.183_184delTAinsCT + 258 + 2 T > C/c.258 + 2 T > C |
| 14 | 3, 5/M | c.183_184delTAinsCT + 258 + 2 T > C/c.258 + 2 T > C |
aPatients 1–8 from the cohort of the North American Shwachman-Diamond Syndrome Registry (SDSR); patients 9–14 from the cohort of the Registro Italiano per la Sindrome di Shwachman-Diamond (RI-SDS)
bAge (years) at time or times of BM sampling