Pretransplantation patient characteristics
| . | MAC (n = 14) . | RIC (n = 26) . |
|---|---|---|
| Median age at presentation, y (range) | 1 (0.08-16) | 4 (0.01-17) |
| Median age at HCT, y (range) | 2.7 (0.3-22) | 5 (0.39-18) |
| Male sex, % | 57 | 73 |
| PRF1 mutation, % | 7 | 15 |
| UNC13D mutation, % | 7 | 4 |
| STX11 mutation, % | 0 | 0 |
| STXBP2 mutation, % | 0 | 8 |
| BIRC4 mutation, % | 0 | 19 |
| Undefined genetic mutation, %* | 86 | 54 |
| Percent of undefined: tested and negative PRF1 | 58 | 100 |
| Percent of undefined: tested and negative UNC13D | 42 | 100 |
| Percent of undefined: tested and negative STX11 | 17 | 63 |
| Percent of undefined tested and negative STXPB2 | NT | 93 |
| Percent of undefined: males tested and negative SH2D1A | 67 | 80 |
| Percent of undefined: males tested and negative BIRC4 | NT | 90 |
| Presented with HLH, % | 100 | 100 |
| Documented CNS involvement, % | 29 | 27 |
| EBV-associated HLH, % | 42 | 27 |
| CMV-associated HLH, % | 14 | 8 |
| Liver transplant prior to HCT, % | 14 | 12 |
| Concurrent Langerhans cell histiocytosis, % | 14 | 0 |
| Treated with dexamethasone, % | 86 | 96 |
| Treated with methylprednisolone, % | 21 | 15 |
| Treated with etoposide, % | 86 | 85 |
| Treated with cyclosporine, % | 43 | 69 |
| Treated with tacrolimus, % | 7 | 12 |
| Treated with rituximab (EBV-associated HLH), % | 29 | 19 |
| Received intrathecal treatment, % | 29 | 35† |
| Received salvage therapy with alemtuzumab, % | 7 | 35 |
| HLH in remission at the time of HCT, % | 64 | 61 |
| . | MAC (n = 14) . | RIC (n = 26) . |
|---|---|---|
| Median age at presentation, y (range) | 1 (0.08-16) | 4 (0.01-17) |
| Median age at HCT, y (range) | 2.7 (0.3-22) | 5 (0.39-18) |
| Male sex, % | 57 | 73 |
| PRF1 mutation, % | 7 | 15 |
| UNC13D mutation, % | 7 | 4 |
| STX11 mutation, % | 0 | 0 |
| STXBP2 mutation, % | 0 | 8 |
| BIRC4 mutation, % | 0 | 19 |
| Undefined genetic mutation, %* | 86 | 54 |
| Percent of undefined: tested and negative PRF1 | 58 | 100 |
| Percent of undefined: tested and negative UNC13D | 42 | 100 |
| Percent of undefined: tested and negative STX11 | 17 | 63 |
| Percent of undefined tested and negative STXPB2 | NT | 93 |
| Percent of undefined: males tested and negative SH2D1A | 67 | 80 |
| Percent of undefined: males tested and negative BIRC4 | NT | 90 |
| Presented with HLH, % | 100 | 100 |
| Documented CNS involvement, % | 29 | 27 |
| EBV-associated HLH, % | 42 | 27 |
| CMV-associated HLH, % | 14 | 8 |
| Liver transplant prior to HCT, % | 14 | 12 |
| Concurrent Langerhans cell histiocytosis, % | 14 | 0 |
| Treated with dexamethasone, % | 86 | 96 |
| Treated with methylprednisolone, % | 21 | 15 |
| Treated with etoposide, % | 86 | 85 |
| Treated with cyclosporine, % | 43 | 69 |
| Treated with tacrolimus, % | 7 | 12 |
| Treated with rituximab (EBV-associated HLH), % | 29 | 19 |
| Received intrathecal treatment, % | 29 | 35† |
| Received salvage therapy with alemtuzumab, % | 7 | 35 |
| HLH in remission at the time of HCT, % | 64 | 61 |
NT indicates not tested.
Some patients with undefined genetic causes of FHLH possess single allele mutations in the autosomal recessively inherited genes, the significance of which is currently unknown.
Some patients received IT treatment with the first diagnostic lumbar puncture in case of suspected CNS involvement which was not found.