Transplant data and post-HSCT complications for the 14 DADA2 patients
| Patient ID . | Year of HSCT . | Age at HCT (y)/sex . | Indication of HSCT . | HLA match/graft source . | Conditioning . | GVHD prophylaxis . | aGVHD/grade . | cGVHD . | Viral comp . | Autoimmune comp . | Last chimerism . | Last follow-up (mo) . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P001 | 2016 | 4/M | PRCA, neutropenia | 10/10 MUD BM | Flu/mel/alem (RIC) | MTX/tacro | No | No | EBV/HHV6 | ITP | 1 y 98% | 14 |
| P002 | 2013 | 20/F | Neutropenia | 5/10 haplo BM (boost for low CD34 dose, 0.5 × 106/kg) | Flu/bu/cy/TBI200 | Tacro/MMF/PTCy | No | No | None | None | 3 y 100% | 41 |
| P003 | 2016 | 11/F | Pancytopenia, autoimmunity | 10/10 MUD PB | Flu/treo/TT/ATG | MTX/CsA | Skin grade 1 | No | Adeno/HHV6, BK | None | 6 mo 100% | 12 |
| P004 | 2012 | 8/F | Pancytopenia | 9/10 MMUD BM | Flu/treo/alem | MTX/CsA | No | No | Adeno/VZV | None | 5 y 100% | 60 |
| P005 | 2016 | 2/M | PRCA, recurrent CMV | 10/10 MUD BM | Flu/treo/TT/ATG | MTX/CsA | Skin grade 2 | No | Adeno | None | 6 mo 100% | 12 |
| P006 | 2016 | 16/F | PRCA, neutropenia | 9/10 MMUD PB (second HSCT for GF) | Flu/TT/ATG (RIC) | MTX/CsA | No | No | BK/CMV | None | 1 mo 100% | 4 |
| P007 | 2003 | 4/M | Refractory SAA | 10/10 MUD BM (first HSCT from affected MSD) | Flu/TBI/alem (RIC) | MTX/CsA | No | No | Adeno | None | 3 y 100% | 161 |
| P008* | 2009 | 3/M | PRCA, neutropenia | MSD BM | Bu/cy | MMF/CsA | Colon grade 3-4 | No | VZV | ITP | 3 y >95% | 76 |
| P009* | 2016 | 5/M | Recurrent TIA, immunodeficiency | 10/10 MUD PB (2 boosts for declining chimerism) | Flu/treo/alem | MMF/CsA | Skin grade 1 | No | Adeno/HSV1/BK | PRCA, neutropenia | 1 y >95% | 15 |
| P010 | 2016 | 23/M | Severe lymphopenia, hypogammaglobulinemia | 10/10 MUD BM | Flu/bu/alem | MTX/CsA | No | No | None | None | 6 mo >95% | 11 |
| P011 | 2016 | 5/F | PRCA, neutropenia | 10/10 MUD BM | Flu/treo/TT/alem | MMF/CsA | Skin grade 1 | No | CMV, EBV | None | 6 mo 100% | 10 |
| P012 | 2014 | 23/F | Severe neutropenia | 10/10 MUD BM | Flu/mel/alem (RIC) | Prednisone/CsA | No | No | None | None | 2 y 98% | 39 |
| P013 | 2015 | 7/M | PRCA | 10/10 MUD BM | Bu/cy/ATG | MTX/CsA | No | No | None | None | 1 y 100% | 21 |
| P014 | 2007 | 9/M | PRCA | MMUD PB (first HSCT from affected MSD) | Flu/TBI450/alem (RIC) | MTX/CsA | Skin grade 2 | Skin + liver moderate | CMV/adeno/BK | AIHA | 3 y 95% | 117 |
| Patient ID . | Year of HSCT . | Age at HCT (y)/sex . | Indication of HSCT . | HLA match/graft source . | Conditioning . | GVHD prophylaxis . | aGVHD/grade . | cGVHD . | Viral comp . | Autoimmune comp . | Last chimerism . | Last follow-up (mo) . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P001 | 2016 | 4/M | PRCA, neutropenia | 10/10 MUD BM | Flu/mel/alem (RIC) | MTX/tacro | No | No | EBV/HHV6 | ITP | 1 y 98% | 14 |
| P002 | 2013 | 20/F | Neutropenia | 5/10 haplo BM (boost for low CD34 dose, 0.5 × 106/kg) | Flu/bu/cy/TBI200 | Tacro/MMF/PTCy | No | No | None | None | 3 y 100% | 41 |
| P003 | 2016 | 11/F | Pancytopenia, autoimmunity | 10/10 MUD PB | Flu/treo/TT/ATG | MTX/CsA | Skin grade 1 | No | Adeno/HHV6, BK | None | 6 mo 100% | 12 |
| P004 | 2012 | 8/F | Pancytopenia | 9/10 MMUD BM | Flu/treo/alem | MTX/CsA | No | No | Adeno/VZV | None | 5 y 100% | 60 |
| P005 | 2016 | 2/M | PRCA, recurrent CMV | 10/10 MUD BM | Flu/treo/TT/ATG | MTX/CsA | Skin grade 2 | No | Adeno | None | 6 mo 100% | 12 |
| P006 | 2016 | 16/F | PRCA, neutropenia | 9/10 MMUD PB (second HSCT for GF) | Flu/TT/ATG (RIC) | MTX/CsA | No | No | BK/CMV | None | 1 mo 100% | 4 |
| P007 | 2003 | 4/M | Refractory SAA | 10/10 MUD BM (first HSCT from affected MSD) | Flu/TBI/alem (RIC) | MTX/CsA | No | No | Adeno | None | 3 y 100% | 161 |
| P008* | 2009 | 3/M | PRCA, neutropenia | MSD BM | Bu/cy | MMF/CsA | Colon grade 3-4 | No | VZV | ITP | 3 y >95% | 76 |
| P009* | 2016 | 5/M | Recurrent TIA, immunodeficiency | 10/10 MUD PB (2 boosts for declining chimerism) | Flu/treo/alem | MMF/CsA | Skin grade 1 | No | Adeno/HSV1/BK | PRCA, neutropenia | 1 y >95% | 15 |
| P010 | 2016 | 23/M | Severe lymphopenia, hypogammaglobulinemia | 10/10 MUD BM | Flu/bu/alem | MTX/CsA | No | No | None | None | 6 mo >95% | 11 |
| P011 | 2016 | 5/F | PRCA, neutropenia | 10/10 MUD BM | Flu/treo/TT/alem | MMF/CsA | Skin grade 1 | No | CMV, EBV | None | 6 mo 100% | 10 |
| P012 | 2014 | 23/F | Severe neutropenia | 10/10 MUD BM | Flu/mel/alem (RIC) | Prednisone/CsA | No | No | None | None | 2 y 98% | 39 |
| P013 | 2015 | 7/M | PRCA | 10/10 MUD BM | Bu/cy/ATG | MTX/CsA | No | No | None | None | 1 y 100% | 21 |
| P014 | 2007 | 9/M | PRCA | MMUD PB (first HSCT from affected MSD) | Flu/TBI450/alem (RIC) | MTX/CsA | Skin grade 2 | Skin + liver moderate | CMV/adeno/BK | AIHA | 3 y 95% | 117 |
Adeno, adenovirus; aGVHD, acute GVHD; AIHA, autoimmune hemolytic anemia; alem, alemtuzumab; BK, BK polyomavirus; BM, bone marrow; bu, busulfan; cGVHD, chronic GVHD; CMV, cytomegalovirus; comp, complications; cy, cyclophosphamide; EBV, Epstein Barr virus; flu, fludarabine; GF, graft failure; haplo, haploidentical; HHV, human herpesvirus; mel, melphalan; MMUD, mismatched unrelated donor; MSD, matched sibling donor; MTX, methotrexate; MUD, matched unrelated donor; PB, peripheral blood; RIC, reduced intensity conditioning; tacro, tacrolimus; treo, treosulfan; TT, thiotepa; VZV, varicella zoster virus.
Siblings.