Table 2.
HSCT characteristics and outcomes for transplanted ZAP70 patients.
| P | Age at 1st HSCT (months) | Second HSCT (months) | Stem Cell Source | Donor & HLA Match | Conditioning/Regimen | GVHD Prophylaxis | CD34 dose/kg (106/kg) | STR
Myeloid (M), Lymphoid (L) |
Engraftment (Platelet/Neutrophil) Days | CD8 (mm³)
(Normal range) |
PHA patient/control (%) | Complications, Infections, Autoimmunity | Life Status, Cause of Death | Years Post-HSCT |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P1 | 24 | No | BM | Father, FMD | No | CSA | 9.08 | M:0%,L:50% | – | 208 (300 – 1000) |
31 | – | Alive, healthy | 15 |
| P2 | 84 | No | BM | Mother, FMD | No | CSA | 6.56 | M:0%,L:76% | – | 460 (300 – 1000) |
7 | Vitiligo | Alive, healthy | 11 |
| P3 | 72 | No | BM | Father, FMD | No | CSA | 3.73 | M:0%, L45% | – | 272 (300 – 1000) |
ND | – | Alive, FTT | 11 |
| P4 | 3 | Yes, at 48 months | BM | Mother, FMD for GVHD, Haploidentical for rejection | 1st: RIC: Fludarabine, Melphalan, ATG 2nd: boost |
CSA | 8.15 | M:0%,L:92% | – | 129 (300 – 1100) |
101 | AIHA, intermittent neutropenia, CMV | alive, healthy | 10 |
| P5 | 7 | No | BM | Sibling, FMD | No | – | 10 | M:0%,L:38% | – | 106 (400 – 1200) |
ND | GVHD Skin grade 2 | Alive, recurrent URTI, bronchiectasis, onychomycosis | 4 |
| P6 | 7 | No | BM | Sibling, FMD | No | – | 10 | M:0%,L:52% | – | 771 (400 – 1200) |
ND | – | Alive, healthy | 3 |
| P7 | 8 | No | BM | Sibling, FMD | No | – | 10 | M:0%, L:59% | – | 677 (500 – 1500) |
ND | – | Alive, healthy | 1.6 |
| P8 | 4 | Yes, at 36 months | BM | Father, FMD | 1st: No 2nd: MAC: Busulfan, Fludabine, ATG |
Tacrolimus, Methotrixate | 4.38 | M:100%,L:95% | 21/23 | 248 (400 – 1200) |
ND | Toxic erythema of chemotherapy | Alive, healthy | 1 |
| P9 | 5 | No | BM | Father, One antigen mismatch | No | CSA,MMF | 5 | – | – | – | – | Dead, Septicemia | – | |
| P10 | 3 | No | BM | Sibling, One antigen mismatch | Yes/MAC: Busulfan, Cyclophosphamide | CSA,Methotrexate | 9.83 | – | 16/30 | – | – | Dead, ARDS | – | |
| P11 | 22 | No | Cord blood | Cord, Unrelated donor | Yes/RIC: Fludarabine, Melphalan, ATG | CSA, MMF, Methylprednisolone | TNC: 5.15 × 108/kg | – | Not engrafted/33 | – | GVHD skin and gut grade 2, VOD | Dead, ARDS | – |
HSCT, Hematopoietic Stem Cell Transplantation; BM, Bone marrow; FMD, Family matched donor, CSA, Cyclosporine; MMF, Mycophenolate mofetil; RIC, Reduced intensity conditioning; MAC, Myeloablative conditioning; ATG, Anti-thymocyte globulin; TNC, Total nucleated cells; ND, not done; AIHA, Autoimmune hemolytic anemia; CMV, Cytomegalovirus; VOD, Veno-Occlusive Disease.