Patient characteristics before HSCT
| Patient . | Sex . | RAB27A mutation . | Effect of mutation . | Age at HLH onset, y . | Time until onset of HLH treatment . | Number of HLH relapses . | Neurologic disease . | Infectious trigger . | Treatment . | Total duration of HLH, wks . | HLH status prior HSCT . | Reference . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 (UPN 389) | F | del154-343 × 2 | deletion exon 3 + 4 | 0.0 | 2 wks | 1 | CS, CSA, ATG | 44 | PR (HM) | P1(5) | ||
| 2 (UPN 483) | F | del154-343 × 2 | deletion exon 3 + 4 | 2.0 | <1 wk | 0 | Isolated CSF pleocytosis | EBV | CS, CSA, ATG, MTX i.t., VP16 | 16 | active disease (fever, anemia, hyperferritinemia, hypertriglyceridemia) | P18(5) |
| 3 (UPN 533) | M | del154-343 × 2 | deletion exon 3 + 4 | 5.1 | 12 mos | 5 | Facial paralysis, intracranial hypertension, CSF pleocytosis | EBV CMV | CS, CSA, MTX i.t. | 76 | PR (HSM, bicytopenia) | |
| 4 (UPN 556) | F | duplication of exon 2 × 2 | duplication of exon 2 | 10.7 | 8 mos | 1 | Peripheral neuropathy | EBV | CS, CSA | 27 | PR (pleocytosis in CSF) | |
| 5 (UPN 643) | F | T209C and C227T | L70P and A76V | 6.9 | 2 wks | 0 | Coma | EBV | CS, CSA, ATG, MTX i.t., anti-CD20 | 10 | CR | |
| 6 (UPN 635) | M | del154-343 × 2 | deletion exon 3 + 4 | 0.8 | 1 wk | 0 | Abnormal MRI | CS, CSA, ATG, MTX i.t. | 14 | PR (anemia) | ||
| 7 (UPN 688) | M | duplication of exon 2 × 2 | duplication of exon 2 | 5.4 | <1 wk | 2 | Peripheral neuropathy | EBV | CS, CSA, ATG, MTX i.t., anti-CD20 | 5 | CR | |
| 8 (UPN 716) | M | del510AAGCC and C550T | frameshift and R184X | 2.2 | 4 wks | 0 | Seizures | CS, CSA, MTX i.t. | 8 | CR | ||
| 9 (UPN728) | F | No RAB27A mutation | 3.0 | <1 wk | 1 | CS, CSA | 3 | PR (hyperferritinemia) | ||||
| 10 (UPN 744) | F | C352T x2 | Q118X | 3.1 | <1 wk | 0 | EBV | CS, CSA, anti-CD20 | 4 | PR (HM, anemia) |
| Patient . | Sex . | RAB27A mutation . | Effect of mutation . | Age at HLH onset, y . | Time until onset of HLH treatment . | Number of HLH relapses . | Neurologic disease . | Infectious trigger . | Treatment . | Total duration of HLH, wks . | HLH status prior HSCT . | Reference . |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 (UPN 389) | F | del154-343 × 2 | deletion exon 3 + 4 | 0.0 | 2 wks | 1 | CS, CSA, ATG | 44 | PR (HM) | P1(5) | ||
| 2 (UPN 483) | F | del154-343 × 2 | deletion exon 3 + 4 | 2.0 | <1 wk | 0 | Isolated CSF pleocytosis | EBV | CS, CSA, ATG, MTX i.t., VP16 | 16 | active disease (fever, anemia, hyperferritinemia, hypertriglyceridemia) | P18(5) |
| 3 (UPN 533) | M | del154-343 × 2 | deletion exon 3 + 4 | 5.1 | 12 mos | 5 | Facial paralysis, intracranial hypertension, CSF pleocytosis | EBV CMV | CS, CSA, MTX i.t. | 76 | PR (HSM, bicytopenia) | |
| 4 (UPN 556) | F | duplication of exon 2 × 2 | duplication of exon 2 | 10.7 | 8 mos | 1 | Peripheral neuropathy | EBV | CS, CSA | 27 | PR (pleocytosis in CSF) | |
| 5 (UPN 643) | F | T209C and C227T | L70P and A76V | 6.9 | 2 wks | 0 | Coma | EBV | CS, CSA, ATG, MTX i.t., anti-CD20 | 10 | CR | |
| 6 (UPN 635) | M | del154-343 × 2 | deletion exon 3 + 4 | 0.8 | 1 wk | 0 | Abnormal MRI | CS, CSA, ATG, MTX i.t. | 14 | PR (anemia) | ||
| 7 (UPN 688) | M | duplication of exon 2 × 2 | duplication of exon 2 | 5.4 | <1 wk | 2 | Peripheral neuropathy | EBV | CS, CSA, ATG, MTX i.t., anti-CD20 | 5 | CR | |
| 8 (UPN 716) | M | del510AAGCC and C550T | frameshift and R184X | 2.2 | 4 wks | 0 | Seizures | CS, CSA, MTX i.t. | 8 | CR | ||
| 9 (UPN728) | F | No RAB27A mutation | 3.0 | <1 wk | 1 | CS, CSA | 3 | PR (hyperferritinemia) | ||||
| 10 (UPN 744) | F | C352T x2 | Q118X | 3.1 | <1 wk | 0 | EBV | CS, CSA, anti-CD20 | 4 | PR (HM, anemia) |
Anti-CD20 indicates rituximab; ATG, anti-thymoglobulin; CR, complete remission; CS, corticosteroids; CSA, cyclosporin A; EBV, Epstein-Barr virus; HLH, hemophagocytic lymphohistiocytosis; H(S)M, hepato(spleno)megaly; MTX i.t., intrathecal methotrexate with steroids; and PR, partial remission.