Table 4.
HSCT details for eleven patients with GATA2 deficiency
| Patient no | Age at HSCT | Donor | Stem cell source | HLA Match | CD34 + , × 106/kg | CMV status d/r |
Conditioning regimen & In vivo T-cell depletion | Chimerism %Day + 28 | GVHD prophylaxis | GVHD | Complications |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | 41 y | MUD | PBSC | 10/10 (11/12) | 7.8 | -/ + | RIC: Fludarabine 150 mg/ m2, Busulfan 8 mg/kg, ATG Thymoglobulin 4 mg/kg | 99% | Mtx + CsA | No | Hemorrhagic cystitis (BK-virus) |
| 2 | 16 y | MUD | PBSC | 10/10 (10/12) | 9.7 | -/ - | MAC*: Busulfan for 4 days (TDM; Css 825 ng/ml), Cyclophosphamide 120 mg/kg, Melphalan 140 mg/m2, ATG Grafalon 3 × 10 mg/kg | > 99% | Mtx + CsA | No | E. coli sepsis; BK-virus cystitis; mucositis (grade 3) |
| 4 | 39 y | MUD | PBSC | 10/10 (12/12) | 10.6 | + / + | RIC: Fludarabine 150 mg/ m2, Busulfan 8 mg/kg. ATG Thymoglobulin 4 mg/kg | > 99% | Mtx + CsA | Chronic: skin and gut | CMV reactivation |
| 5 | 39 y | MUD | PBSC | 10/10 (11/12) | 5.2 | +/ - | RIC: Fludarabine 90 mg/m2, 2 Gy TBI | 99% | Mtx + CsA | No | Enterococcus faecalis sepsis (2 months post-HSCT), prolonged cytopenia, died of intracerebral hemorrhage 8 months post-HSCT |
| 6 | 29 y | MRD | PBSC | HLA-id sibling | 5.4 | + / + | RIC: Fludarabine 150 mg/m2, Busulfan 8 mg/kg | 98% | Mtx + CsA | Chronic: liver, oral mucosa and genitalia | Cytopenia at day + 33, osteoporosis, compression fractures |
| 7 | 22 y | MUD | PBSC | 10/10 | 6.9 | -/ - | MAC: Fludarabine 150 mg/m2, Treosulfan 42 g/m2, ATG Thymoglobulin 4 mg/kg | > 99% | Mtx + CsA | Chronic (limited): skin | Moraxella nonliquefaciens sepsis on day 0. E. coli sepsis day + 14. Oral mucositis grade IV. PTLD 7 weeks post-HSCT |
| 9 | 23 y | MUD | PBSC | 10/10 (11/12) | 4.3 | +/ - | MAC: Fludarabine 160 mg/m2, Busulfan 12,8 mg/kg (i.v.), ATG Thymoglobulin 4 mg/kg | > 99% | Mtx + CsA | Acute GvHD grade I: skin | None |
| 10 | 32 y | MUD | PBSC | 10/10 (11/12) | 5.9 | -/ - | MAC: Fludarabine 150 mg/m2, Treosulfan 42 g/m2, ATG Thymoglobulin 4 mg/kg | > 99% | Mtx + CsA | Acute GvHD: serositis | None |
| 11 | 27 y | MUD | PBSC | 10/10 (10/12) | 10.2 | -/ - | MAC: Cyclophosphamide 100 mg/kg, Busulfan 16 mg/kg | N.a | Mtx + CsA | Chronic (extensive): gut, eye, and lung | Hemorrhagic cystitis, Herpes oesophagitis |
| 12 | 14 y | MUD | BM | 10/10 (11/12) | TNC: 3.5 × 108/kg | -/ - | MAC*: Fludarabine 160 mg/m2, Treosulfan 42 g/m2,Thiotepa 8 mg/kg, ATG Grafalon 3 × 10 mg/kg | day + 84: > 99% | Mtx + CsA | No | Impetigo day + 40 |
| 13 | 11 y | MMFD (father) | PBSC, TCRab + /CD19 + depletion in vitro | Haploidentical | 10.3 | + / + | MAC*: Fludarabine 160 mg/m2, Thiotepa 10 mg/kg, Melphalan 140 mg/m2, ATG Grafalon 3 × 10 mg/kg | > 99% | MMF (until day + 28) | No | None |
Abbreviations: BM, bone marrow; CMV, cytomegalovirus; CsA, cyclosporine A; Css, concentration at steady-state; Cya, cyclosporine A; GVHD, graft versus host disease; i.v., intravenous; MAC, myeloablative conditioning; MMF, mycophenolate mofetil; MMFD, mismatched family donor; MRD, matched related donor; Mtx, methotrexate: MUD, matched unrelated donor; N.a., not available; PBSC, peripheral blood stem cells; RIC, reduced-intensity conditioning; TDM, therapeutic drug monitoring; Tx, transplantation
*According to HSCT recommendations by the EWOG-MDS study group