Literature review of patients with RD treated with rhG-CSF/GM-CSF before the first HSCT
| No. . | Sex . | AK2 variants . | Age at initiation of rhG-CSF or GM-CSF . | rhG-CSF or rhGM-CSF . | Dose of rhG-CSF or rhGM-CSF (μg/kg/day) . | Duration (days) . | Response of neutrophils to rhG-CSF or rhGM-CSF . | HSCT . | Outcome . | Cause of death . | Ref . |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | M | c.523C>G, p.Arg175Gly, and c.330+1G>C | 16 days | rhG-CSF | 10–20 | 13 | No | No | Death | Sepsis | (14) |
| 2 | M | c.330+5G>A (homozygous) | 1 day | rhG-CSF | ND | ND | No | Yes | Alive | - | (15) |
| 3 | M | c.622T>C, p.Ser208Pro (homozygous) | 13 mo | rhG-CSF | 2–3 | 7 moa | Yes | Yesb | Death | SOS | (12) |
| 4 | M | c.524G>C, p.Arg175Pro (homozygous) | Within the first 3 mo | rhG-CSF | 5 | 14 | No | Yes | Alive | - | (16) |
| 5 | F | ND | Within the first 10 days | rhG-CSF | 10 | ND | No | No | Death | Sepsis | (17) |
| 6 | F | ND | 1 mo | rhG-CSF | ND | ND | No | Yesc | Alive | - | (18) |
| 7 | M | ND | 2 days | rhG-CSF | 10 | 10 | No | Yesd | Alive | - | (19) |
| 8 | M | ND | 1 mo | rhGM-CSF | 4–15 | 43 | Yes | No | Death | Infections due to CMV and Aspergillus fumigatus | (13) |
| 9 | F | ND | 1 day | rhG-CSF | 4 | 14 | No | Yes | Alive | - | (20, 21) |
| 10 | M | ND | 21 days | rhG-CSF | 5–30 | 40 | No | Yes | Alive | - | (21) |
| 11 | ND | ND | 16 days | rhG-CSF | 10–20 | ND | No | Yes | Alive | - | (22) |
| 12 | ND | ND | ND | rhG-CSF | 10–100 | ND | No | Yes | ND | - | (22) |
| UPN1 | F | c.409C>T, p.Arg137Ter, and c.498+1G>A | 11 days | rhG-CSF | 5 | 129 | Yes | Yes | Alive | - | This study |
| UPN2 | F | c.308G>A, p.Arg103Gln, and c.409C>T, p.Arg137Ter | 2 days | rhG-CSF | 7.5–15 | 78 | Yes | Yes | Alive | - | This study |
| No. . | Sex . | AK2 variants . | Age at initiation of rhG-CSF or GM-CSF . | rhG-CSF or rhGM-CSF . | Dose of rhG-CSF or rhGM-CSF (μg/kg/day) . | Duration (days) . | Response of neutrophils to rhG-CSF or rhGM-CSF . | HSCT . | Outcome . | Cause of death . | Ref . |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | M | c.523C>G, p.Arg175Gly, and c.330+1G>C | 16 days | rhG-CSF | 10–20 | 13 | No | No | Death | Sepsis | (14) |
| 2 | M | c.330+5G>A (homozygous) | 1 day | rhG-CSF | ND | ND | No | Yes | Alive | - | (15) |
| 3 | M | c.622T>C, p.Ser208Pro (homozygous) | 13 mo | rhG-CSF | 2–3 | 7 moa | Yes | Yesb | Death | SOS | (12) |
| 4 | M | c.524G>C, p.Arg175Pro (homozygous) | Within the first 3 mo | rhG-CSF | 5 | 14 | No | Yes | Alive | - | (16) |
| 5 | F | ND | Within the first 10 days | rhG-CSF | 10 | ND | No | No | Death | Sepsis | (17) |
| 6 | F | ND | 1 mo | rhG-CSF | ND | ND | No | Yesc | Alive | - | (18) |
| 7 | M | ND | 2 days | rhG-CSF | 10 | 10 | No | Yesd | Alive | - | (19) |
| 8 | M | ND | 1 mo | rhGM-CSF | 4–15 | 43 | Yes | No | Death | Infections due to CMV and Aspergillus fumigatus | (13) |
| 9 | F | ND | 1 day | rhG-CSF | 4 | 14 | No | Yes | Alive | - | (20, 21) |
| 10 | M | ND | 21 days | rhG-CSF | 5–30 | 40 | No | Yes | Alive | - | (21) |
| 11 | ND | ND | 16 days | rhG-CSF | 10–20 | ND | No | Yes | Alive | - | (22) |
| 12 | ND | ND | ND | rhG-CSF | 10–100 | ND | No | Yes | ND | - | (22) |
| UPN1 | F | c.409C>T, p.Arg137Ter, and c.498+1G>A | 11 days | rhG-CSF | 5 | 129 | Yes | Yes | Alive | - | This study |
| UPN2 | F | c.308G>A, p.Arg103Gln, and c.409C>T, p.Arg137Ter | 2 days | rhG-CSF | 7.5–15 | 78 | Yes | Yes | Alive | - | This study |
CMV, cytomegalovirus; rhG-CSF, recombinant human granulocyte colony-stimulating factor; rhGM-CSF, recombinant human granulocyte–macrophage colony-stimulating factor; HSCT, hematopoietic stem cell transplantation; ND, no data; SOS, sinusoidal obstruction syndrome; UPN, unique patient number; MDS, myelodysplastic syndromes.
Discontinued due to the development of Sweet’s syndrome.
The second HSCT was performed because the patient developed neutropenia and complete recipient chimerism in the myeloid lineage at 6 mo after transplant.
Two months after HSCT, neutrophils gradually decreased, leading to mixed chimerism, and a second HSCT was performed at 8 mo.
The first HSCT was performed without a conditioning regimen, followed by a second transplant from the same donor.