Human GSD type I patients
| Patient ID . | Age (y) . | Sex . | Gene/mutation . | ANC* (×10−3/μL) . | Total neutrophils CD66b+ (%)† . | Immature neutrophils CD66b+-CD16−/lo (%)† . | Immature neutrophils (%)‡ . |
|---|---|---|---|---|---|---|---|
| GSD-Ib | SLC37A4 | ||||||
| P1 | 13 | M | p.G20D/? | 1.33 | 33.8 | 31.2 | 92.3 |
| P2 | 34 | F | p.R28C/p.G339C | 6.3 | 75.6 | 66.2 | 87.5 |
| P3 | 21 | M | p.G339C/c.1042_1043delCT | 1.86 | 59.2 | 43.9 | 74.2 |
| P4 | 17 | F | p.G363C/p.G363C | 2.16 | 53.6 | 38.7 | 72.2 |
| P5 | 16 | M | p.G363C/p.G363C | 2.12 | 60.1 | 41.2 | 68.6 |
| P6 | 9 | F | p.G68R/p.Q248X | 2.28 | 54.0 | 34.3 | 63.5 |
| P7 | 18 | M | c.381+1G>T/p.C183R | 1.99 | 65.5 | 38.0 | 58.0 |
| P8 | 5 | F | p.G339C/c.1042_1043delCT | 0.69 | 21.5 | 10.2 | 47.4 |
| P9 | 23 | F | c.381+1G>T/p.C183R | 1.46 | 51.6 | 22.4 | 43.4 |
| P10 | 16 | M | c.1042_1043delCT/c.1042_1043delCT | 0.95 | 26.6 | 10.3 | 40.2 |
| P11 | 9 | M | c.1042_1043delCT/c.1042_1043delCT | 0.85 | 27.6 | 9.2 | 33.3 |
| P12 | 25 | M | p.G68R/c.1103ins12 | 0.67 | 27.1 | 8.9 | 32.9 |
| P13 | 8 | F | p.G20D/? | 1.72 | 53.7 | 9.1 | 16.9 |
| P14 | 40 | M | p.G149E/p.G149E | 0.92 | 78.0 | 5.2 | 6.6 |
| P15 | 31 | F | p.G20D/p.G20D | 1.17 | 26.7 | 1.2 | 4.4 |
| GSD-Ia | G6PC | ||||||
| PA1 | 18 | M | p.F177C/p.Q347X | 2.8 | 58.1 | 4.9 | 8.4 |
| PA2 | 31 | M | p.R83C/p.R83C | 6.17 | 51.5 | 5.5 | 10.6 |
| PA3 | 32 | M | p.R83C/p.G188S | 4.58 | 51.7 | 5.6 | 10.9 |
| PA4 | 43 | M | p.R83C/p.Q347X | 6.56 | 66.0 | 3.6 | 5.45 |
| Patient ID . | Age (y) . | Sex . | Gene/mutation . | ANC* (×10−3/μL) . | Total neutrophils CD66b+ (%)† . | Immature neutrophils CD66b+-CD16−/lo (%)† . | Immature neutrophils (%)‡ . |
|---|---|---|---|---|---|---|---|
| GSD-Ib | SLC37A4 | ||||||
| P1 | 13 | M | p.G20D/? | 1.33 | 33.8 | 31.2 | 92.3 |
| P2 | 34 | F | p.R28C/p.G339C | 6.3 | 75.6 | 66.2 | 87.5 |
| P3 | 21 | M | p.G339C/c.1042_1043delCT | 1.86 | 59.2 | 43.9 | 74.2 |
| P4 | 17 | F | p.G363C/p.G363C | 2.16 | 53.6 | 38.7 | 72.2 |
| P5 | 16 | M | p.G363C/p.G363C | 2.12 | 60.1 | 41.2 | 68.6 |
| P6 | 9 | F | p.G68R/p.Q248X | 2.28 | 54.0 | 34.3 | 63.5 |
| P7 | 18 | M | c.381+1G>T/p.C183R | 1.99 | 65.5 | 38.0 | 58.0 |
| P8 | 5 | F | p.G339C/c.1042_1043delCT | 0.69 | 21.5 | 10.2 | 47.4 |
| P9 | 23 | F | c.381+1G>T/p.C183R | 1.46 | 51.6 | 22.4 | 43.4 |
| P10 | 16 | M | c.1042_1043delCT/c.1042_1043delCT | 0.95 | 26.6 | 10.3 | 40.2 |
| P11 | 9 | M | c.1042_1043delCT/c.1042_1043delCT | 0.85 | 27.6 | 9.2 | 33.3 |
| P12 | 25 | M | p.G68R/c.1103ins12 | 0.67 | 27.1 | 8.9 | 32.9 |
| P13 | 8 | F | p.G20D/? | 1.72 | 53.7 | 9.1 | 16.9 |
| P14 | 40 | M | p.G149E/p.G149E | 0.92 | 78.0 | 5.2 | 6.6 |
| P15 | 31 | F | p.G20D/p.G20D | 1.17 | 26.7 | 1.2 | 4.4 |
| GSD-Ia | G6PC | ||||||
| PA1 | 18 | M | p.F177C/p.Q347X | 2.8 | 58.1 | 4.9 | 8.4 |
| PA2 | 31 | M | p.R83C/p.R83C | 6.17 | 51.5 | 5.5 | 10.6 |
| PA3 | 32 | M | p.R83C/p.G188S | 4.58 | 51.7 | 5.6 | 10.9 |
| PA4 | 43 | M | p.R83C/p.Q347X | 6.56 | 66.0 | 3.6 | 5.45 |
ANC, absolute neutrophil count; F, female; M, male. Bold type represents patients exhibiting mild neutropenia.
Neutropenia is defined as an absolute neutrophil count <1.0 × 103 per μL.
The levels of total (CD66b+) and immature (CD66b+CD16−/lo) neutrophils in the fixed, erythrocyte-depleted blood leukocytes were analyzed by flow cytometry using CD66b and CD16 antibodies. The range of neutrophils in normal HDs (n = 13) was 47% to 62%.
The percentage of immature neutrophils represents the ratio of CD66b+CD16−/lo/CD66b+.