Patient characteristics and SBDS genotypes
Proband . | Sex . | Age, years* . | WBC, × 10-9/L . | Hgb, gm/dL . | Plt, × 10-9/L . | ANC, × 10-9/L† . | IRT, ng/mL‡ . | SDS classification . | SBDS genotype . |
|---|---|---|---|---|---|---|---|---|---|
| 001 | M | 2 | 5 | 12.5 | 315 | 0.169 | 28.7 | Probable | normal × normal |
| 004 | F | 4 | 7.2 | 11.3 | 239 | 0.189 | 8.2 | Probable | 183/184 × 258 + 2 |
| 006 | F | 10 | 2.6 | 11.8 | 105 | 0.816 | 26.9 | Probable | 652C>T × 258 + 2 |
| 019 | M | 12 | 2.6 | 12.1 | 110 | 0.276 | 22.1 | Probable | 505C>T × 258 + 2 |
| 020 | M | 8 | 6.2 | 12.5 | 234 | (G) 3.782 | NA | Probable | 183/184 × 258 + 2 |
| 022 | F | 3 | 4.6 | 11.8 | 176 | 0.156 | 24.3 | Probable | 183/184 × 258 + 2 |
| 023 | M | 10 | 5.5 | 11.5 | 197 | 1.776 | NA | Probable | 183/184 × 258 + 2 |
| 026 | M | 6 | 4.8 | 11.7 | 325 | (G) 12.097 | 17.4 | Probable | normal × normal |
| 028 | F | 3 | 5 | 11.6 | 130 | 1.655 | 5.6 | Probable | 183/184 × 258 + 2 |
| 048 | M | 13 | 2.7 | 12.2 | 90 | 0.251 | NA | Probable | 183/184 × 258 + 2 |
| 050 | F | 35 | 1.7 | 11.6 | 118 | (G) 0.262 | 0.6 | Probable | 183/184 × 258 + 2 |
| 053 | F | 6 | 4.8 | 12.6 | 145 | 0.379 | 15.4 | Probable | 183/184 × 258 + 2 |
| 058 | F | 8 | 3.8 | 11.4 | 198 | 0.901 | 3.8 | Probable | 183/184 × 258 + 2 |
| 060 | M | 8 | 3 | 12.5 | 134 | 1.035 | NA | Probable | 183/184 × 258 + 2 |
| 075 | M | 9 | 2.3 | 12.4 | 72 | 0.619 | 0 | Probable | 183/184 × 258 + 2 |
| 076 | M | 15 | 4.4 | 13.4 | 217 | 2.182 | 0.8 | Probable | 183/184 × 258 + 2 |
| 077 | M | 5 | 7.7 | 11.7 | 234 | 0.400 | 42.2 | Probable | 183/184 × 258 + 2 |
| 078 | M | 24 | 1.3 | 6.8 | 20 | NA | 14.4 | Probable | 183/184 × 258 + 2 |
| 042 | M | 3 | 5.2 | 12.1 | 367 | 1.550 | 26.4 | Possible | normal × normal |
| 056 | F | 5 | 4.4 | 12.9 | 224 | 4.488 | 3.8 | Possible | 183/184 × 258 + 2 |
| 059 | M | 14 | 3.4 | 12.7 | 194 | 1.486 | 2.4 | Possible | 183/184 × 258 + 2 |
| 073 | F | 7 | 5.9 | 12.4 | 265 | NA | 1.8 | Possible | normal × normal |
| 074 | F | 2 | 5.8 | 11.6 | 385 | 1.334 | 22.7 | Possible | normal × normal |
| 082 | M | 10 | 5.2 | 13.3 | 96 | 1.976 | 12.8 | Possible | 258 + 1 × 258 + 2 |
| 017 | M | 8 | 2.9 | 12.8 | 255 | 1.450 | 11.3 | Not | normal × normal |
| 055 | M | 7 | 4.5 | 13.2 | 363 | 2.349 | 20.1 | Not | normal × normal |
| 057 | M | 2 | 3.6 | 9.9 | 323 | 0.788 | 17 | Not | normal × normal |
| 079 | M | 10 | 3.1 | 10.9 | 121 | 0.738 | NA | Unclassified | 183/184 × 258 + 2 |
| 081 | F | 29 | 3 | 12.5 | 136 | 0.951 | NA | Unclassified | 183/184 × 258 + 2 |
Proband . | Sex . | Age, years* . | WBC, × 10-9/L . | Hgb, gm/dL . | Plt, × 10-9/L . | ANC, × 10-9/L† . | IRT, ng/mL‡ . | SDS classification . | SBDS genotype . |
|---|---|---|---|---|---|---|---|---|---|
| 001 | M | 2 | 5 | 12.5 | 315 | 0.169 | 28.7 | Probable | normal × normal |
| 004 | F | 4 | 7.2 | 11.3 | 239 | 0.189 | 8.2 | Probable | 183/184 × 258 + 2 |
| 006 | F | 10 | 2.6 | 11.8 | 105 | 0.816 | 26.9 | Probable | 652C>T × 258 + 2 |
| 019 | M | 12 | 2.6 | 12.1 | 110 | 0.276 | 22.1 | Probable | 505C>T × 258 + 2 |
| 020 | M | 8 | 6.2 | 12.5 | 234 | (G) 3.782 | NA | Probable | 183/184 × 258 + 2 |
| 022 | F | 3 | 4.6 | 11.8 | 176 | 0.156 | 24.3 | Probable | 183/184 × 258 + 2 |
| 023 | M | 10 | 5.5 | 11.5 | 197 | 1.776 | NA | Probable | 183/184 × 258 + 2 |
| 026 | M | 6 | 4.8 | 11.7 | 325 | (G) 12.097 | 17.4 | Probable | normal × normal |
| 028 | F | 3 | 5 | 11.6 | 130 | 1.655 | 5.6 | Probable | 183/184 × 258 + 2 |
| 048 | M | 13 | 2.7 | 12.2 | 90 | 0.251 | NA | Probable | 183/184 × 258 + 2 |
| 050 | F | 35 | 1.7 | 11.6 | 118 | (G) 0.262 | 0.6 | Probable | 183/184 × 258 + 2 |
| 053 | F | 6 | 4.8 | 12.6 | 145 | 0.379 | 15.4 | Probable | 183/184 × 258 + 2 |
| 058 | F | 8 | 3.8 | 11.4 | 198 | 0.901 | 3.8 | Probable | 183/184 × 258 + 2 |
| 060 | M | 8 | 3 | 12.5 | 134 | 1.035 | NA | Probable | 183/184 × 258 + 2 |
| 075 | M | 9 | 2.3 | 12.4 | 72 | 0.619 | 0 | Probable | 183/184 × 258 + 2 |
| 076 | M | 15 | 4.4 | 13.4 | 217 | 2.182 | 0.8 | Probable | 183/184 × 258 + 2 |
| 077 | M | 5 | 7.7 | 11.7 | 234 | 0.400 | 42.2 | Probable | 183/184 × 258 + 2 |
| 078 | M | 24 | 1.3 | 6.8 | 20 | NA | 14.4 | Probable | 183/184 × 258 + 2 |
| 042 | M | 3 | 5.2 | 12.1 | 367 | 1.550 | 26.4 | Possible | normal × normal |
| 056 | F | 5 | 4.4 | 12.9 | 224 | 4.488 | 3.8 | Possible | 183/184 × 258 + 2 |
| 059 | M | 14 | 3.4 | 12.7 | 194 | 1.486 | 2.4 | Possible | 183/184 × 258 + 2 |
| 073 | F | 7 | 5.9 | 12.4 | 265 | NA | 1.8 | Possible | normal × normal |
| 074 | F | 2 | 5.8 | 11.6 | 385 | 1.334 | 22.7 | Possible | normal × normal |
| 082 | M | 10 | 5.2 | 13.3 | 96 | 1.976 | 12.8 | Possible | 258 + 1 × 258 + 2 |
| 017 | M | 8 | 2.9 | 12.8 | 255 | 1.450 | 11.3 | Not | normal × normal |
| 055 | M | 7 | 4.5 | 13.2 | 363 | 2.349 | 20.1 | Not | normal × normal |
| 057 | M | 2 | 3.6 | 9.9 | 323 | 0.788 | 17 | Not | normal × normal |
| 079 | M | 10 | 3.1 | 10.9 | 121 | 0.738 | NA | Unclassified | 183/184 × 258 + 2 |
| 081 | F | 29 | 3 | 12.5 | 136 | 0.951 | NA | Unclassified | 183/184 × 258 + 2 |
WBC indicates white blood cell count; Hgb, hemoglobin; Plt, platelets.
Age at time of entry into registry and laboratory evaluation.
The absolute neutrophil count (ANC) for patients receiving G-CSF is indicated by G.
Normal value for immunoreactive serum trypsinogen (IRT) is greater than 16.7 ng/mL. Not available (NA), 183-184CT>TA (183/184), 258 + 2T>C (258 + 2), 258 + 1G>C (258 + 1).