Patient and transplantation characteristics and outcome after HCT in children with MHC class II expression deficiency (N = 25)
| Variables . | Results . |
|---|---|
| Patient characteristics | |
| Year of transplant | |
| 1998-2007 | 6 (24) |
| 2008-2018 | 19 (76) |
| Male | 15 (60) |
| Age at diagnosis, median (range), mo | 6.5 (birth-89.6) |
| Age at transplant, median (range), mo | 21.4 (0.9-93.3) |
| Interval between diagnosis and HCT, median (range), mo | 9.2 (0.9-71.5) |
| Newborn MHC class II expression deficiency | 4 (16) |
| Positive family history | 12 (48) |
| Consanguineous parents | 22 (88) |
| BCG vaccination | 21 (84) |
| History of PCP | 10 (40) |
| Pretransplant chronic diarrhea | 13 (52) |
| Growth failure at HCT (<9th centile) | 14 (56) |
| Pretransplant autoimmune disease | 2 (8) |
| Donor characteristics | |
| Type of donor | |
| MFD | 6 (24) |
| MUD | 6 (24) |
| MMUD* | 6 (24) |
| Parental HID† | 7 (28) |
| Stem cell source | |
| Marrow | 7 (28) |
| Unmanipulated PB | 10 (40) |
| TCRαβ/CD19-depleted PBSCs | 7 (28) |
| CB | 1 (4) |
| Graft details, median (range) | |
| Marrow | |
| TNC, ×108/kg | 4.1 (2.5-11.5) |
| CD34, ×106/kg | 3.4 (3.1-5.9) |
| CD3, ×108/kg | 0.61 (0.37-1.0) |
| CD19, ×107/kg | 3.85 (1.6-6.1) |
| Unmanipulated PB | |
| TNC, ×108/kg | 16.8 (13.4-42.7) |
| CD34, ×106/kg | 12.5 (6.3-28.6) |
| CD3, ×108/kg | 4.95 (3.4-9.6) |
| CD19, ×107/kg | 9.6 (1.6-22.0) |
| TCRαβ/CD19-depleted PBSCs | |
| TNC, ×108/kg | 12.7 (7.6-28.0) |
| CD34, ×106/kg | 26.1 (6.9-56.6) |
| CD3, ×107/kg | 4.2 (1.4-45) |
| CD19, ×105/kg | 6.0 (3.6-12.0) |
| TCRαβ, ×104/kg | 5.0 (2.7-7.0) |
| NK cells, ×107/kg | 5.5 (1.8-11.0) |
| Transplant characteristics | |
| Conditioning regimen | |
| Myeloablative conditioning | |
| Busulfan-cyclophosphamide | 3 (12) |
| Treosulfan-cyclophosphamide | 2 (8) |
| Fludarabine-treosulfan-thiotepa | 7 (28) |
| RTC | |
| Treosulfan-fludarabine | 12 (48) |
| Fludarabine-melphalan | 1 (4) |
| Serotherapy | |
| None | 4 (12) |
| ATG‡ | 8 (32) |
| Alemtuzumab | 14 (56) |
| GvHD prophylaxis | |
| None | 5 (20) |
| CSA alone | 3 (12) |
| CSA + MTX | 2 (8) |
| CSA + MMF | 14 (56) |
| CSA + steroid (for CB) | 1 (4) |
| Hematopoietic recovery | |
| Days to neutrophil recovery, median (range) | 15 (8-22) |
| Days to platelet recovery, median (range) | 16 (11-42) |
| Transplant-related complications | |
| Acute GvHD | 13 (52) |
| Grade II-IV | 4 (16) |
| Grade III-IV | 0 |
| Chronic GvHD | 0 |
| Veno-occlusive disease | 0 |
| CMV viremia | 7 (28) |
| Adenoviremia | 9 (36) |
| HHV6 viremia | 7 (28) |
| EBV viremia | 1 (4) |
| Patients who required parenteral nutrition | 17 (68) |
| Patients with graft failure | 3 (12) |
| Secondary autologous reconstitution | 2 (8) |
| Secondary aplasia | 1 (4) |
| Cause of death (n = 6) | |
| Pneumonitis | 4 (16) |
| Cerebral hemorrhage | 1 (4) |
| Infection | 1 (4) |
| Variables . | Results . |
|---|---|
| Patient characteristics | |
| Year of transplant | |
| 1998-2007 | 6 (24) |
| 2008-2018 | 19 (76) |
| Male | 15 (60) |
| Age at diagnosis, median (range), mo | 6.5 (birth-89.6) |
| Age at transplant, median (range), mo | 21.4 (0.9-93.3) |
| Interval between diagnosis and HCT, median (range), mo | 9.2 (0.9-71.5) |
| Newborn MHC class II expression deficiency | 4 (16) |
| Positive family history | 12 (48) |
| Consanguineous parents | 22 (88) |
| BCG vaccination | 21 (84) |
| History of PCP | 10 (40) |
| Pretransplant chronic diarrhea | 13 (52) |
| Growth failure at HCT (<9th centile) | 14 (56) |
| Pretransplant autoimmune disease | 2 (8) |
| Donor characteristics | |
| Type of donor | |
| MFD | 6 (24) |
| MUD | 6 (24) |
| MMUD* | 6 (24) |
| Parental HID† | 7 (28) |
| Stem cell source | |
| Marrow | 7 (28) |
| Unmanipulated PB | 10 (40) |
| TCRαβ/CD19-depleted PBSCs | 7 (28) |
| CB | 1 (4) |
| Graft details, median (range) | |
| Marrow | |
| TNC, ×108/kg | 4.1 (2.5-11.5) |
| CD34, ×106/kg | 3.4 (3.1-5.9) |
| CD3, ×108/kg | 0.61 (0.37-1.0) |
| CD19, ×107/kg | 3.85 (1.6-6.1) |
| Unmanipulated PB | |
| TNC, ×108/kg | 16.8 (13.4-42.7) |
| CD34, ×106/kg | 12.5 (6.3-28.6) |
| CD3, ×108/kg | 4.95 (3.4-9.6) |
| CD19, ×107/kg | 9.6 (1.6-22.0) |
| TCRαβ/CD19-depleted PBSCs | |
| TNC, ×108/kg | 12.7 (7.6-28.0) |
| CD34, ×106/kg | 26.1 (6.9-56.6) |
| CD3, ×107/kg | 4.2 (1.4-45) |
| CD19, ×105/kg | 6.0 (3.6-12.0) |
| TCRαβ, ×104/kg | 5.0 (2.7-7.0) |
| NK cells, ×107/kg | 5.5 (1.8-11.0) |
| Transplant characteristics | |
| Conditioning regimen | |
| Myeloablative conditioning | |
| Busulfan-cyclophosphamide | 3 (12) |
| Treosulfan-cyclophosphamide | 2 (8) |
| Fludarabine-treosulfan-thiotepa | 7 (28) |
| RTC | |
| Treosulfan-fludarabine | 12 (48) |
| Fludarabine-melphalan | 1 (4) |
| Serotherapy | |
| None | 4 (12) |
| ATG‡ | 8 (32) |
| Alemtuzumab | 14 (56) |
| GvHD prophylaxis | |
| None | 5 (20) |
| CSA alone | 3 (12) |
| CSA + MTX | 2 (8) |
| CSA + MMF | 14 (56) |
| CSA + steroid (for CB) | 1 (4) |
| Hematopoietic recovery | |
| Days to neutrophil recovery, median (range) | 15 (8-22) |
| Days to platelet recovery, median (range) | 16 (11-42) |
| Transplant-related complications | |
| Acute GvHD | 13 (52) |
| Grade II-IV | 4 (16) |
| Grade III-IV | 0 |
| Chronic GvHD | 0 |
| Veno-occlusive disease | 0 |
| CMV viremia | 7 (28) |
| Adenoviremia | 9 (36) |
| HHV6 viremia | 7 (28) |
| EBV viremia | 1 (4) |
| Patients who required parenteral nutrition | 17 (68) |
| Patients with graft failure | 3 (12) |
| Secondary autologous reconstitution | 2 (8) |
| Secondary aplasia | 1 (4) |
| Cause of death (n = 6) | |
| Pneumonitis | 4 (16) |
| Cerebral hemorrhage | 1 (4) |
| Infection | 1 (4) |
Unless otherwise indicated, data are n (%).
BCG, bacille Calmette-Guérin; CB, cord blood; PB, peripheral blood; TNC, total nucleated cell dose.
Six patients had a 9/10 MMUD transplant.
Three patients received add-back T cells.
Six patients received ATG (Grafalon) and 1 patient received thymoglobulin.