Clinical and hematologic features of AD DC
Generation . | UPN . | Age, y . | Skin/nail findings . | WBC/(mm3) . | ANC/(mm3) . | Hemoglobin level, g/dL . | MCV, fL . | Platelet count, × 103/μL . |
---|---|---|---|---|---|---|---|---|
I | 12 | 68* | +/+ | 8000 | NA | 14.7 | 100† | 69‡ |
II | 1 | 45* | +/+ | 2200 | 1056‡ | 10.6‡ | 117† | 16‡ |
II | 2 | 50 | +/+ | 3910 | 1900 | 13.0 | 91 | 293 |
II | 3 | 46 | +/+ | 3900 | 2391 | 12.3‡ | 104† | 140‡ |
II | 4 | 41 | +/+ | 5100 | 2820 | 12.7‡ | 103† | 196 |
II | 5 | 37 | +/+ | 5300 | 2760 | 14.7 | 95† | 210 |
II | 6 | 30 | +/+ | 5000 | 3220 | 12.5‡ | 104† | 94‡ |
III | 7 | 22* | +/+ | 4400 | 2068 | 11.4‡ | 118† | 38‡ |
III | 8 | 18 | +/+ | 3220 | 1420 | 14.6 | 99† | 83‡ |
III | 9 | 15 | –/+ | 5300 | 2690 | 13.0 | 90 | 255 |
III | 10 | 8 | –/– | 5400 | 2376 | 12.1‡ | 89 | 147‡ |
III | 11 | 4 | –/– | 9900 | 5500 | 12.5 | 81 | 228 |
Generation . | UPN . | Age, y . | Skin/nail findings . | WBC/(mm3) . | ANC/(mm3) . | Hemoglobin level, g/dL . | MCV, fL . | Platelet count, × 103/μL . |
---|---|---|---|---|---|---|---|---|
I | 12 | 68* | +/+ | 8000 | NA | 14.7 | 100† | 69‡ |
II | 1 | 45* | +/+ | 2200 | 1056‡ | 10.6‡ | 117† | 16‡ |
II | 2 | 50 | +/+ | 3910 | 1900 | 13.0 | 91 | 293 |
II | 3 | 46 | +/+ | 3900 | 2391 | 12.3‡ | 104† | 140‡ |
II | 4 | 41 | +/+ | 5100 | 2820 | 12.7‡ | 103† | 196 |
II | 5 | 37 | +/+ | 5300 | 2760 | 14.7 | 95† | 210 |
II | 6 | 30 | +/+ | 5000 | 3220 | 12.5‡ | 104† | 94‡ |
III | 7 | 22* | +/+ | 4400 | 2068 | 11.4‡ | 118† | 38‡ |
III | 8 | 18 | +/+ | 3220 | 1420 | 14.6 | 99† | 83‡ |
III | 9 | 15 | –/+ | 5300 | 2690 | 13.0 | 90 | 255 |
III | 10 | 8 | –/– | 5400 | 2376 | 12.1‡ | 89 | 147‡ |
III | 11 | 4 | –/– | 9900 | 5500 | 12.5 | 81 | 228 |
Complete blood counts and physical examinations were performed on all subjects except UPN 12 and UPN 1, where information was extracted from medical records. Skin findings included hypopigmentation or hyperpigmentation, while nail findings included ridging and dystrophic changes. WBC indicates white blood cell count; ANC, absolute neutrophil count; and MCV, mean corpuscular volume.
Dead
Value greater than 2 standard deviations above age-matched population
Value greater than 2 standard deviations below age-matched population