Table 3.
Literature review on HSCT for 11 ELANE-neutropenia patients.
| Ref. | Mutation Nucleotide effect | Mutation protein effect | Sex/age at diagnosis/age at HSCT | HSCT indication | Donor stem- cell source; matching | Conditioning regimen | GVHD prophylaxis | GVHD | Outcome/follow-up |
|---|---|---|---|---|---|---|---|---|---|
| [11] | NR | Mutated, not specified | M/1 month/9 months | No response to GCSF | MUD CB; 4/6 | (1) Bu–Cy–ATG (MAC) | (1) CSA–MTX | No | No engraftment/42 days |
| No engraftment rejection | MUD, CB; 4/6 | (2) Flu–ATG (RIC) (3) Flu–Mel–Cam (RIC) | (2) CSA–MMF (3) CSA–MMF | No aGVHD | Rejection/5 months Alive/20 months | ||||
| [12] | c.1287A>G | Met(–29)Val | M/1 month/– | No response to GCSF | SIB, BM | MAC | NR | NR | Alive/47 days |
| [13] | NR | p.Leu121His | F/2 weeks/28 years | CSF3R mutations | SIB, PBSC | Flu–Bu–Camp | Fk–Rapa | No | Alive/60 months |
| NR | p.His87del | M/3 months/14 years | MDS–AML | MUD, PBSC | Bu–Cy–Mel–ATG | Low CSA–MTX | severe cGVHD | Alive/31 months | |
| NR | p.Cys151Ser | M/1 week/7 years | GCSF resistance, MDS | MUD, CB | Bu–Cy–Mel–ATG | CSA–Pred | Grade-IV aGVHD | Died of aGVHD/40 days | |
| [14] | g.2253A>C | p.Q73P | M/16 months/3 years | No response to GCSF | MUD, BM | Flu–Mel–TBI–ATG | Fk–MTX | NR | Alive/15 months |
| [15] | NR | p.Trp127Cys | M/1 month/4 years | No response to GCSF | NR | NR | NR | No | Rejection, alive/5 years post-2nd HSCT |
| NR | p.Gln208Ter | M/1 month/31 years | AML | NR | NR | NR | Moderate | Alive/7 years | |
| [16] | c.401A>C | p.Gln134Pro, | M/12 months/2 years | No response to GCSF | SIB, BM | Mel–Flu–TBI | NR | NR | Alive |
| [17] | c.1A>G | p.Met1Val | F/6 weeks/6 months | No response to GCSF | MUD, BM; 9/10 | (1) Flu–Mel–Cam–ATG (RIC) | Fk | No | Rejection/6 months |
| Rejection | MUD, BM; 9/10 | (2) Flu–Bu–rATG (MAC) | Fk–MTX | NR | Alive/1 year | ||||
| [18]* | c.573_597+5 del | M/1 year/25 years | No response to GCSF | MUD, BM;10/10 | Flu–Cy–ATG–TBI | CSA–MTX | Grade-IV aGVHD | Died of aGVHD/128 days |
MUD match unrelated donor, SIB sibling donor, CB cord blood, BM bone marrow, PBSC peripheral blood stem cells, MAC myeloablative conditioning, RIC reduced-intensity conditioning, Bu busulfan, Cy cyclophosphamide, ATG anti-thymoglobulin, rATG rabbit ATG, Flu fludarabine, Camp Campath (alemtuzumab), Mel melphalan, CSA cyclosporine, MTX methotrexate, Fk tacrolimus, Rapa rapamycin, Pred prednisone, aGVHD acute graft vs. host disease, cGVHD chronic GVHD, NR not reported, MDS–AML myelodysplasia–acute myeloid leukemia, TBI total body irradiation, RIC reduced-intensity conditioning, MAC myeloablative conditioning.
*Patient carrying the familial Mediterranean fever MEFV mutation.