Table 1.
Patient, donor, and transplant characteristics
| Patients | N (%) | Notes |
| Sex | ||
| Male | 43 (61) | |
| Female | 27 (39) | |
| Age at diagnosis, median (range), y | 0.96 (0.0 (prenatal)-14.2) | |
| Age at HSCT, median (range), y | 3.5 (0.3-16.1) | |
| Time from diagnosis to HSCT, median (range), mo | 10.5 (1.2-177.7) | |
| for SCID patients, mo | 2.7 (1.3-16.8) | |
| Diagnosis | n (%) | |
| SCID | 21 [3 Omenn] (30) | RAG1-2: 8; IL2RG: 3; JAK3: 2; ADA: 2; PNP: 1; DCLRE1C: 1; CD3e: 1; IL7R: 1; unk: 2 |
| SAA* | 13 (18.5) | |
| RBC disorders | 11 (15.5) | Thal: 10; SCD: 1 |
| HLH | 6 (8.5) | |
| Other PID | 11 (15.5) | CID: 2 (1 IL7R; 1 RAG1-2); WAS: 2; IPEX: 1; HIES: 1; CGD: 1; CD27def: 1; WHIM: 1; LRBA-def: 1; NEMO-def: 1 |
| IBMFS | 3 (4.5) | CAMT: 1; SDS: 1; SCN: 1 |
| Metabolic disorders | 3 (4.5) | ALD: 2; MLD: 1 |
| Other | 2 (3) | Osteopetrosis: 1; NMO: 1 |
| Previous HSCT | 5 (7) | |
| Donor characteristics | median (range) | |
| Age, y | 37.5 (20-51) | |
| Type of donor | n (%) | |
| Mother | 41 (58.5) | |
| Father | 26 (37) | |
| Sibling | 3 (4.5) | |
| Sex mismatch | 35 (50) | |
| Female donor → male recipient | 26/35 (74) | |
| HLA-match | ||
| Host-versus-graft direction | n (%) | |
| 5/10 | 42 (60) | |
| 6/10 | 20 (28.5) | |
| 7/10 | 8 (11.5) | |
| Graft-versus-host direction | n (%) | |
| 5/10 | 32 (46) | |
| 6/10 | 22 (31.5) | |
| 7/10 | 16 (22.5) | |
| CMV status for donor/recipient | n (%) | |
| NEG/NEG | 3 (4.5) | |
| POS/NEG | 10 (14) | |
| NEG/POS | 7 (10) | |
| POS/POS | 50 (71.5) | |
| Infectious status at HSCT | n (%) | |
| No infections | 47 (67) | |
| Infection present | 23 (33) | |
| Bacterial | 3 (13) | |
| Viral | 17 (74) | |
| Fungal | 3 (13) | |
| Conditioning regimen used | n (%) | |
| Busulfan†+Thiotepa+Fludarabine | 24 (34) | Thal, SCD, HLH, metabolic disorders, some PIDs |
| Treosulfan+Thiotepa+Fludarabine | 18 (26) | some PIDs, IBMFs, other |
| Treosulfan+Fludarabine | 16 (23) | SCID |
| Cyclophosphamide+Fludarabine ±TBI | 11 (15.5) | SAA |
| Other | 1 (1.5) | |
| Cell dose infused | median (range) | |
| CD34+ cells × 106/kg | 20.3 (8.5-48.8) | |
| αβ+ T cells × 106/kg | 0.034 (0.002-0.095) | |
| γδ+ T cells × 106/kg | 13.0 (1.0-143.4) | |
| NK cells × 106/kg | 48.5 (8.1-156.1) | |
| CD20+ cells × 106/kg | 0.02 (0.003-1.96) |
ALD, adrenoleukodystrophy; CAMT, congenital amegakaryocytic thrombocytopenia; FA, Fanconi anemia; IBMFS, inherited bone marrow failure syndromes; mo, months; NEMO, Nuclear factor-kappa B essential modulator (NEMO) deficiency; SAA, severe aplastic anemia; unk, unknown; WAS, Wiskott-Aldrich syndrome; y, years.
*
1 patient with EB and SAA
†
busulfan was adjusted to maintain Css between 600 and 900 ng/ml