Summary of patients receiving HCT for ATM
| Age at HCT . | Donor source . | Conditioning regimen and GVHD prophylaxis . | Toxicity and complications . | Outcomes . | Authors . |
|---|---|---|---|---|---|
| 21 months | MSD BM | Bu, Cy, hATG, MTX, CSA | None | Neutrophil engraftment at day +17. Stable mixed chimerism (75%-90%). Transfusion independent. | Chik et al12 |
| 20 months | 5/6 sibling UCB (α-thal trait) | Bu, Cy, hATG, MTX, CSA | HHV-6 viremia, grade 2 skin aGVHD, ITP | Neutrophil engraftment at day +26. 100% donor chimerism. Transfusion independent. | Zhou et al14 |
| 23 months | MSD BM (α-thal and HbE trait) | Cy, TBI (1400 cGy), MTX | None | Neutrophil engraftment at day +26. Stable mixed chimerism (66%). Transfusion independent. | Thornley et al15 |
| 24 months | MSD | Bu, Flu, ATG, TLI | Mild VOD | Initially engrafted but then had graft failure at 7 months after HCT. On chronic transfusions with chelation therapy. | Joshi et al16 |
| 8 months, 18 months | #1: 4/6 unrelated UCB mismatched at B and DRB; #2 MUD 6/6 PBSCT, CD34+ selection | #1 HCT: Bu, Flu, TLI, CSA, MMF; #2 HCT: Bu, Flu, ATG, TBI (200 cGy), CSA, MMF | EBV + PTLD | #1 HCT: graft failure and on chronic transfusions. #2 HCT: neutrophil engraftment at day +18. Stable mixed chimerism (90%-97%). Transfusion independent. | Yi et al17 |
| 44 months | 5/6 unrelated UCB | Bu, Cy, ATG | Grade 2 skin aGVHD, candida sepsis | 100% donor chimerism. Transfusion independent. | Gumuscu et al13 |
| 19 months | MSD BM | NR | NR | Neutrophil engraftment at day +17. Initially, 100% donor at day +25 then stable mixed chimerism (41% donor at day +112) with stable Hb of 9.1. Discontinued immunosuppression and received DLI×5. Converted to 100% donor chimerism. Transfusion independent. | Pongtanakul et al20 |
| 5 months | MUD 10/10 BM | Bu, Flu, ATG, MTX, CSA | Severe VOD | Neutrophil engraftment at day +25. Stable mixed chimerism. Transfusion independent. | Elsaid et al19 |
| 13 years | 9/10 MMUD | NR (RIC) | Invasive fungal infection, grade 4 skin and gut GVHD | Died 10 months post transplant from transplant-related complications. | Pecker et al20 |
| 10 years | 9/10 MMUD | NR (RIC) | None | 100% donor chimerism. Transfusion independent. | Pecker et al.20 |
| 12 months | MSD | NR | NR | Transfusion independent by 18 months. | Kreger et al1 |
| 24 months | NR | NR | NR | Transfusion independent by age 3. | Kreger et al1 |
| 22 months | MUD 12/12 PBSCT | Bu, Cy, hATG, MTX, CSA | Grade 2 skin and grade 3 gut aGVHD, HHV-7 viremia | Neutrophil engraftment at day +15. 100% donor chimerism. Transfusion independent. | Chan et al18 |
| 28 months | MUD PBSC | HU, azacitadine, Cy, Bu, TT, Flu, rATG, MTX, MMF, CSA | Grade 2 skin aGVHD. HHV-7 and EBV viremia, central line sepsis | Neutrophil engraftment at day +11. Mixed chimerism (98%). Transfusion independent. | Chan et al18 |
| 60 months | AB TCD haploidentical PBSC | HU, azacitadine, Cy, TT, Fu, Treo, rATG | Grade 2 skin and gut aGVHD. Klebsiella bacteremia. | Neutrophil engraftment at day +13. Mixed chimerism (99%). Transfusion independent. | Chan et al18 |
| Age at HCT . | Donor source . | Conditioning regimen and GVHD prophylaxis . | Toxicity and complications . | Outcomes . | Authors . |
|---|---|---|---|---|---|
| 21 months | MSD BM | Bu, Cy, hATG, MTX, CSA | None | Neutrophil engraftment at day +17. Stable mixed chimerism (75%-90%). Transfusion independent. | Chik et al12 |
| 20 months | 5/6 sibling UCB (α-thal trait) | Bu, Cy, hATG, MTX, CSA | HHV-6 viremia, grade 2 skin aGVHD, ITP | Neutrophil engraftment at day +26. 100% donor chimerism. Transfusion independent. | Zhou et al14 |
| 23 months | MSD BM (α-thal and HbE trait) | Cy, TBI (1400 cGy), MTX | None | Neutrophil engraftment at day +26. Stable mixed chimerism (66%). Transfusion independent. | Thornley et al15 |
| 24 months | MSD | Bu, Flu, ATG, TLI | Mild VOD | Initially engrafted but then had graft failure at 7 months after HCT. On chronic transfusions with chelation therapy. | Joshi et al16 |
| 8 months, 18 months | #1: 4/6 unrelated UCB mismatched at B and DRB; #2 MUD 6/6 PBSCT, CD34+ selection | #1 HCT: Bu, Flu, TLI, CSA, MMF; #2 HCT: Bu, Flu, ATG, TBI (200 cGy), CSA, MMF | EBV + PTLD | #1 HCT: graft failure and on chronic transfusions. #2 HCT: neutrophil engraftment at day +18. Stable mixed chimerism (90%-97%). Transfusion independent. | Yi et al17 |
| 44 months | 5/6 unrelated UCB | Bu, Cy, ATG | Grade 2 skin aGVHD, candida sepsis | 100% donor chimerism. Transfusion independent. | Gumuscu et al13 |
| 19 months | MSD BM | NR | NR | Neutrophil engraftment at day +17. Initially, 100% donor at day +25 then stable mixed chimerism (41% donor at day +112) with stable Hb of 9.1. Discontinued immunosuppression and received DLI×5. Converted to 100% donor chimerism. Transfusion independent. | Pongtanakul et al20 |
| 5 months | MUD 10/10 BM | Bu, Flu, ATG, MTX, CSA | Severe VOD | Neutrophil engraftment at day +25. Stable mixed chimerism. Transfusion independent. | Elsaid et al19 |
| 13 years | 9/10 MMUD | NR (RIC) | Invasive fungal infection, grade 4 skin and gut GVHD | Died 10 months post transplant from transplant-related complications. | Pecker et al20 |
| 10 years | 9/10 MMUD | NR (RIC) | None | 100% donor chimerism. Transfusion independent. | Pecker et al.20 |
| 12 months | MSD | NR | NR | Transfusion independent by 18 months. | Kreger et al1 |
| 24 months | NR | NR | NR | Transfusion independent by age 3. | Kreger et al1 |
| 22 months | MUD 12/12 PBSCT | Bu, Cy, hATG, MTX, CSA | Grade 2 skin and grade 3 gut aGVHD, HHV-7 viremia | Neutrophil engraftment at day +15. 100% donor chimerism. Transfusion independent. | Chan et al18 |
| 28 months | MUD PBSC | HU, azacitadine, Cy, Bu, TT, Flu, rATG, MTX, MMF, CSA | Grade 2 skin aGVHD. HHV-7 and EBV viremia, central line sepsis | Neutrophil engraftment at day +11. Mixed chimerism (98%). Transfusion independent. | Chan et al18 |
| 60 months | AB TCD haploidentical PBSC | HU, azacitadine, Cy, TT, Fu, Treo, rATG | Grade 2 skin and gut aGVHD. Klebsiella bacteremia. | Neutrophil engraftment at day +13. Mixed chimerism (99%). Transfusion independent. | Chan et al18 |
AB TCD, αβ T-cell depleted; cGVHD, chronic graft-versus-host disease; DRB, HLA DR isotype, beta chain; DLI, donor lymphocyte infusions; EBV, Epstein-Barr virus; HbE, hemoglobin E; HHV, human herpesvirus; HU, hydroxyurea; ITP, immune thrombocytopenia; Mel, melphalan; MMF, mycophenolate mofetil; MUD, matched unrelated donor; MMUD, mismatched unrelated donor; PBSCT, peripheral blood stem cell transplant; PTLD, post-transplant proliferative disease; rATG, rabbit-derived ATG; RIC, reduced-intensity conditioning; TBI, total body irradiation; TLI, total lymphoid irradiation; Treo, treosulfan; TT, thiotepa.