Patient, donor, and transplantation characteristics
| Characteristic . | No. . | % . | Median . | Range . |
|---|---|---|---|---|
| No. of patients | 23 | 100 | ||
| Gender | ||||
| Male | 15 | 65 | ||
| Female | 8 | 35 | ||
| Age at HSCT, y | 3.3 | 0.4-12 | ||
| Original disorders | ||||
| SCID | 8 | 35 | ||
| SAA | 4 | 17 | ||
| Fanconi anemia | 4 | 17 | ||
| Immunodeficiency with polyendocrinopathy and enteropathy X-linked | 1 | 4.3 | ||
| Congenital amegakaryocytic thrombocytopenia | 1 | 4.3 | ||
| Shwachmann-Diamond syndrome | 1 | 4.3 | ||
| UNC13D-mutated hemophagocytic lymphohistiocytosis | 1 | 4.3 | ||
| DOCK-8–mutated hyper-IgE syndrome | 1 | 4.3 | ||
| Osteopetrosis | 1 | 4.3 | ||
| Thalassemia | 1 | 4.3 | ||
| Type of donor | ||||
| Father | 8 | 35 | ||
| Mother | 15 | 65 | ||
| Donor age, y | 35 | 28-52 | ||
| Donor/recipient gender combinations | ||||
| Female donor/male recipient | 7 | 30 | ||
| Other combinations | 16 | 70 | ||
| Donor KIR genotype† | ||||
| A/A | 5 | 24 | ||
| B/x | 16 | 76 | ||
| Donor B-content value† | ||||
| 0-1 | 10 | 48 | ||
| >2 | 11 | 52 | ||
| Donor-recipient NK alloreactivity‡ | ||||
| Yes | 4 | 17 | ||
| No | 19 | 83 | ||
| Human CMV serology | ||||
| Negative donor/negative recipient | 2 | 9 | ||
| Negative donor/positive recipient | 1 | 4.3 | ||
| Positive donor/negative recipient | 4 | 17 | ||
| Positive donor/positive recipient | 16 | 70 | ||
| Conditioning regimen§ | ||||
| Busulfan-thiotepa-fludarabine | 3 | 13 | ||
| Treosulfan-thiotepa-fludarabine | 4 | 17 | ||
| Treosulfan-fludarabine|| | 8 | 35 | ||
| Fludarabine-cyclophosphamide ± single-dose TBI¶ | 8 | 35 | ||
| No. of cells infused | ||||
| CD34+ × 106 per kg | 15.8 | 10.2-40.0 | ||
| TCR-αβ+CD3+ × 104 per kg | 4 | 1-9.5 | ||
| TCR-γδ+CD3+ × 106 per kg | 9.4 | 1.6-95.4 | ||
| CD3–CD16+CD56+ × 106 per kg | 38.2 | 15.7-176.8 | ||
| CD20+ × 104 per kg | 4 | 0.5-15 | ||
| No. of days to polymorphonuclear neutrophil recovery# | 13 | 10-20 | ||
| No. of days to platelet recovery** | 10 | 7-40 | ||
| Graft failure†† | 4 | 20 | ||
| Chimerism at time of last follow-up‡‡ | 100a | 80-100 |
| Characteristic . | No. . | % . | Median . | Range . |
|---|---|---|---|---|
| No. of patients | 23 | 100 | ||
| Gender | ||||
| Male | 15 | 65 | ||
| Female | 8 | 35 | ||
| Age at HSCT, y | 3.3 | 0.4-12 | ||
| Original disorders | ||||
| SCID | 8 | 35 | ||
| SAA | 4 | 17 | ||
| Fanconi anemia | 4 | 17 | ||
| Immunodeficiency with polyendocrinopathy and enteropathy X-linked | 1 | 4.3 | ||
| Congenital amegakaryocytic thrombocytopenia | 1 | 4.3 | ||
| Shwachmann-Diamond syndrome | 1 | 4.3 | ||
| UNC13D-mutated hemophagocytic lymphohistiocytosis | 1 | 4.3 | ||
| DOCK-8–mutated hyper-IgE syndrome | 1 | 4.3 | ||
| Osteopetrosis | 1 | 4.3 | ||
| Thalassemia | 1 | 4.3 | ||
| Type of donor | ||||
| Father | 8 | 35 | ||
| Mother | 15 | 65 | ||
| Donor age, y | 35 | 28-52 | ||
| Donor/recipient gender combinations | ||||
| Female donor/male recipient | 7 | 30 | ||
| Other combinations | 16 | 70 | ||
| Donor KIR genotype† | ||||
| A/A | 5 | 24 | ||
| B/x | 16 | 76 | ||
| Donor B-content value† | ||||
| 0-1 | 10 | 48 | ||
| >2 | 11 | 52 | ||
| Donor-recipient NK alloreactivity‡ | ||||
| Yes | 4 | 17 | ||
| No | 19 | 83 | ||
| Human CMV serology | ||||
| Negative donor/negative recipient | 2 | 9 | ||
| Negative donor/positive recipient | 1 | 4.3 | ||
| Positive donor/negative recipient | 4 | 17 | ||
| Positive donor/positive recipient | 16 | 70 | ||
| Conditioning regimen§ | ||||
| Busulfan-thiotepa-fludarabine | 3 | 13 | ||
| Treosulfan-thiotepa-fludarabine | 4 | 17 | ||
| Treosulfan-fludarabine|| | 8 | 35 | ||
| Fludarabine-cyclophosphamide ± single-dose TBI¶ | 8 | 35 | ||
| No. of cells infused | ||||
| CD34+ × 106 per kg | 15.8 | 10.2-40.0 | ||
| TCR-αβ+CD3+ × 104 per kg | 4 | 1-9.5 | ||
| TCR-γδ+CD3+ × 106 per kg | 9.4 | 1.6-95.4 | ||
| CD3–CD16+CD56+ × 106 per kg | 38.2 | 15.7-176.8 | ||
| CD20+ × 104 per kg | 4 | 0.5-15 | ||
| No. of days to polymorphonuclear neutrophil recovery# | 13 | 10-20 | ||
| No. of days to platelet recovery** | 10 | 7-40 | ||
| Graft failure†† | 4 | 20 | ||
| Chimerism at time of last follow-up‡‡ | 100a | 80-100 |
IgE, immunoglobulin E; TBI, total body irradiation.
One patient each had RAG2, JAK3, CD3ε, and ARTEMIS deficiency, and 4 had RAG1 deficiency.
Two donors were not investigated for KIR haplotype and B content.
NK alloreactivity was evaluated according to the KIR/KIR-ligand mismatch model in GVHD direction.7
Busulfan 16 mg/kg over 4 days; thiotepa 10 mg/kg divided into 2 doses; fludarabine 40 mg/m2 per day for 4 consecutive days or 30 mg/m2 per day for 4 consecutive days in patients with Fanconi anemia and SAA; treosulfan 14 g/m2 per day for 3 consecutive days; cyclophosphamide 300 mg/m2 per day for 4 consecutive days.
This regimen was used in patients with SCID.
This regimen was used in patients with either SAA or Fanconi anemia, the former being those given single-dose TBI at 200 cGy.
Defined as the time needed to reach an absolute neutrophil count ≥0.5 × 109 per liter.
Defined as the time needed to reach an unsupported platelet count ≥50 × 109 per liter.
Defined as either the absence of hematopoietic recovery of donor origin on day +35 after the allograft (primary graft rejection) or as loss of donor cells after transient engraftment of donor-origin hematopoiesis (secondary graft rejection).
Hematopoietic chimerism was evaluated by using DNA obtained from peripheral blood by microsatellite analysis.
Two patients had 80% donor chimerism.