Table 1.
Main characteristics of 16 ELANE-neutropenia patients who underwent HSCT in France with situation pre HSCT, HSCT conditioning regimen and outcome.
| Patient number | Mutation | Indication | HSCT yeara/at age, year | Conditioning regimen | Graft; origin-matching | GVHD prophylaxis | Nucleated cells, n/kg | Highest GVHD grade | Complications | Post-HSCT status/follow-up, years | |
|---|---|---|---|---|---|---|---|---|---|---|---|
| DNA | Protein | ||||||||||
| 1 | c.688delG | p.Asp230fs | MDS–AML | >2006/0.92 | Bu–Cy–ATG | MUD; 10/10 | CSA–MTX | 43 | II | CMV | Alive/13 |
| 2 | c.125C>T | p.Pro42leu | GCSF failure | >2005/9.28 | Bu–Cy–ATG | MUD; 9/10 | CSA | 4.27 × 108 | II | ARDS; cerebral abscess; seizure | Alive/12.6 |
| 3 | c.640G>A | p.Gly214Arg | ALL | <2005/12.39 | TAM12 | UCB; 9/10 | CSA–MTX | Unknown | IV | Sepsis | Died/0.7 |
| 4 | c.158A>T | p.His53Leu | MDS–AML | <2005/4.72 | Bu–Cy–ATG | UCB; 3/6 | MMF–Pred | 10.2 × 107 | I | No | Alive/16.8 |
| 4 | c.640G>A | p.Gly214Arg | GCSF failure | <2005/1.58 | Bu–Cy–ATG | T-depleted MUD; 9/10 | No | 11.1 × 106 (CD34+) | I | No | Alive/17.7 |
| 6 | c.640G>A | p.Gly214Arg | MDS–AML | <2005/10.3 | Bu–Cy–ATG | MUD; 10/10 | CSA–MTX | 3.45 × 108 | I | CMV, EBV | Alive/16.6 |
| 7 | c.199_207del | p.Ser67_Ala69del | GCSF failure | >2005/0.83 | Bu–Cy–ATG | SIB | CSA | Unknown | Unknown | Unknown | Alive/14 |
| 8 | c.170C>T | p.Ala57Val | High-dose GCSF | >2005/0.6 | Bu–Cy–ATG | UCB; 4/6 | CSA–Pred | 15.8 × 107 | None | No | Alive/10.3 |
| 9 | c.377C>T | p.Ser126Leu | High-dose GCSF | >2005/3.98 | Flu–Bu–ATG | MUD; 10/10 | CSA | 49.26 × 106 | I | EBV | Alive/6.9 |
| 10 | c.241_246del | p.Arg81_Val82del | High-dose GCSF | >2005/7.73 | Flu–Bu–ATG | SIB | CSA | 7.66 × 108 | II (cGVHD) | Aplasia | Alive/6.4 |
| 11 | c.193G>T | p.Val65Phe | High-dose GCSF | >2005/1.28 | Flu–Bu–ATG | MUD; 10/10 | CSA–MMF | 19.8 × 108 | IV | TAM, CMV, EBV Pseudomonas | Died/0.7 |
| 12 | c.253G>A | p.Gly85Arg | High-dose GCSF | >2005/5.12 | Bu–Cy–ATG | MUD; 10/10 | CSA | Unknown | III | No | Alive/3 |
| 13 | c.640G>A | p.Gly214Arg | GCSF failure | >2005/1.52 | Flu–Bu–ATG | UCB; 5/6 | CSA | 8.3 × 107 | None | Late-onset autoimmunity (ANF + ) and late transplant loss | Alive/6.1 (4.2 years after 2nd HSCT) |
| Late rejection despite full engraftment | >2005/ 3.7 | Flu–Cy–ATG | UCB; 5/6 | CSA | 0. 83 × 108/kg (0. 24 × 106/kg CD34). | I | Chickenpox | ||||
| 14 | c.640G>A | p.Gly214Arg | GCSF failure | >2005/1.44 | Flu–Bu | SIB; 10/10 | CSA | 3.77 × 108 | II | No | Alive/5.1 |
| 15 | c.1A>T | p.Met1? | GCSF failure | >2005/0.73 | Bu–Th–Flu–ATG | MUD; 12/12 | CSA–MTX | Unknown | II | EBV | Alive/1.7 |
| 16 | c.640G>A | p.Gly214Arg | GCSF failure | >2005/1.49 | Bu–Cy–ATG | MUD | CSA | Unknown | II | EBV | Alive/3.5 |
HSCT hematopoietic stem-cell transplantation, MDS–AML myelodysplasia–acute myeloid leukemia, ALL acute lymphoblastic leukemia, ANF antineutrophil factor, ARDS acute respiratory distress syndrome, Bu busulfan, Cy cyclophosphamide, ATG anti-thymoglobulin, Flu fludarabine, Th thiotepa, MUD match unrelated donor, UCB unrelated cord blood, SIB sibling donor, CSA cyclosporine, MTX methotrexate, MMF mycophenolate mofetil, Pred prednisone, cGVHD chronic graft vs. host disease, CMV cytomegalovirus, EBV Epstein–Barr virus, TAM transplant-associated thrombotic microangiopathy, TAM12 12-Gy total body irradiation, cytarabine and melphalan.
a<, before or >, after 2005.