Patients’ characteristics
| Patients/gender . | Gene/variants . | Age of HLH onset/emapalumab start (mo) . | Infections prior to emapalumab . | HLH treatment at the start of emapalumab . | Reason for emapalumab/dose (mg/kg/twice a week) . | HLH treatment at the end of emapalumab . | Type of donor/transplant processing . | Conditioning regimen/GVHD prophylaxis . | Outcome/HLH status . |
|---|---|---|---|---|---|---|---|---|---|
| P1/M | XIAP (NM_001167.4): c.612_614del, p.Gly205del, hemi | 38/39 | Pneumonia, CMV infection | Dexa 10 mg/m2 VP 150 mg/m2/weekly Ruxo 30 mg/m2 | Relapse/10 | Dexa 3 mg/m2 VP 150 mg/m2/weekly Ruxo 30 mg/m2 | Haplo, TCRαβ+/CD19+ depletion | Аtgam 5 mg/kg Mel 180 mg Rit 200 mg TLI 4 Gy Flu 150 mg/m2 Cyc 120 mg/m2/Ruxo | Died (post-HSCT complications) |
| P2/M | XIAP (NM_001167.4): c.1027_1030del, p.(His343_Leu344delinsTer), hemi | 6/7 | Pneumonia, CMV infection | Dexa 10 mg/m2 Ruxo 25 mg/m2 Toci 10 mg/2 wk | No remission/1.3–3.3 | Dexa 0 mg/m2 Ruxo 25 mg/m2 | MUD (10/10), TCRαβ+/CD19+ depletion | TT 10 mg/kg Treo 36 mg/m2 Flu 150 mg/m2 ATG 5 mg/kg Rit 100 mg/Ruxo | 36 mo after HSCT/HLH remission |
| P3/F | UNC13D (NM_199242.3): c.2258_2276delinsTACCTTGTCCGA, p.(Gly753ValfsTer40), homo | 1/6 | Enterocolitis (Klebsiella pneumoniae ESBL, norovirus) | HLH-2004 Toci 10 mg/2 wk | Relapse/1.5 | Dexa 0 mg/m2 VP 150 mg/m2/2 wk Toci 10 mg/2 wk CsA | Haplo, TCRαβ+/CD19+ depletion | TT 10 mg/kg Treo 36 mg/m2 Flu 150 mg/m2 ATG 5 mg/kg Rit 50 mg/CsA, abatacept | 28 mo after HSCT/HLH remission |
| P4/F | u/n | 9/18 | Pneumonia, Enterocolitis (norovirus) | Dexa 10 mg/m2 Toci 10 mg/2 wk Bari 4 mg/daily Anakinra 10 mg/kg/daily SQ | Relapse/10-6-1 | Dexa 0.5 mg/m2 Bari 4 mg/daily Anakinra 10 mg/kg/daily SQ | No HSCT | - | Lost to follow-up |
| P5/M | XIAР (NM_001167.4): del 2–5 ex, hemi | 7/8 | Pneumonia | Dexa 10 mg/m2 VP 150 mg/m2/weekly Ruxo 30 mg/m2 Toci 10 mg/2 wk | Relapse/6–1.2 | Dexa 0 mg/m2 Ruxo 30 mg/m2 | Haplo, TCRαβ+/CD19+ depletion | TT 10 mg/kg Treo 36 mg/m2 Flu 150 mg/m2 ATG 5.5 mg/kg Rit 100 mg/Ruxo | 34 mo after HSCT/HLH remission |
| P6/F | u/n | 11/12 | No | Dexa 10 mg/m2 VP 150 mg/m2/weekly MTX + dexa IT | No remission/10–1.5 | Dexa 0.35 mg/m2 VP 150 mg/m2/2 wk MTX + dexa IT | Haplo, TCRαβ depletion | TT 10 mg/kg Treo 42 mg/m2 Flu 150 mg/m2 ATG 5 mg/kg Rit 100 mg/abatacept | Died (post-HSCT complications) |
| P7M | UNC13D (NM_199242.3): c.2346_2349del, p.(Arg782SerfsTer12); c.3011T>C, p.(Leu1004Pro), compound het | 5/6 | Perianal necrotizing dermatitis (Klebsiella pneumoniae ESBL, Enterobacter asburiae ESBL) | HLH-2004 MTX + dexa IT | Relapse/1.5 | Dexa 1.25 mg/m2 VP 150 mg/m2/2 wk CsA MTX + dexa IT | Haplo, TCRαβ+/CD19+ depletion | Аtgam 5 mg/kg Treo 36 mg/m2 Flu 150 mg/m2 Rit 100 mg/CsA, abatacept | 20 mo after HSCT/HLH remission |
| Patients/gender . | Gene/variants . | Age of HLH onset/emapalumab start (mo) . | Infections prior to emapalumab . | HLH treatment at the start of emapalumab . | Reason for emapalumab/dose (mg/kg/twice a week) . | HLH treatment at the end of emapalumab . | Type of donor/transplant processing . | Conditioning regimen/GVHD prophylaxis . | Outcome/HLH status . |
|---|---|---|---|---|---|---|---|---|---|
| P1/M | XIAP (NM_001167.4): c.612_614del, p.Gly205del, hemi | 38/39 | Pneumonia, CMV infection | Dexa 10 mg/m2 VP 150 mg/m2/weekly Ruxo 30 mg/m2 | Relapse/10 | Dexa 3 mg/m2 VP 150 mg/m2/weekly Ruxo 30 mg/m2 | Haplo, TCRαβ+/CD19+ depletion | Аtgam 5 mg/kg Mel 180 mg Rit 200 mg TLI 4 Gy Flu 150 mg/m2 Cyc 120 mg/m2/Ruxo | Died (post-HSCT complications) |
| P2/M | XIAP (NM_001167.4): c.1027_1030del, p.(His343_Leu344delinsTer), hemi | 6/7 | Pneumonia, CMV infection | Dexa 10 mg/m2 Ruxo 25 mg/m2 Toci 10 mg/2 wk | No remission/1.3–3.3 | Dexa 0 mg/m2 Ruxo 25 mg/m2 | MUD (10/10), TCRαβ+/CD19+ depletion | TT 10 mg/kg Treo 36 mg/m2 Flu 150 mg/m2 ATG 5 mg/kg Rit 100 mg/Ruxo | 36 mo after HSCT/HLH remission |
| P3/F | UNC13D (NM_199242.3): c.2258_2276delinsTACCTTGTCCGA, p.(Gly753ValfsTer40), homo | 1/6 | Enterocolitis (Klebsiella pneumoniae ESBL, norovirus) | HLH-2004 Toci 10 mg/2 wk | Relapse/1.5 | Dexa 0 mg/m2 VP 150 mg/m2/2 wk Toci 10 mg/2 wk CsA | Haplo, TCRαβ+/CD19+ depletion | TT 10 mg/kg Treo 36 mg/m2 Flu 150 mg/m2 ATG 5 mg/kg Rit 50 mg/CsA, abatacept | 28 mo after HSCT/HLH remission |
| P4/F | u/n | 9/18 | Pneumonia, Enterocolitis (norovirus) | Dexa 10 mg/m2 Toci 10 mg/2 wk Bari 4 mg/daily Anakinra 10 mg/kg/daily SQ | Relapse/10-6-1 | Dexa 0.5 mg/m2 Bari 4 mg/daily Anakinra 10 mg/kg/daily SQ | No HSCT | - | Lost to follow-up |
| P5/M | XIAР (NM_001167.4): del 2–5 ex, hemi | 7/8 | Pneumonia | Dexa 10 mg/m2 VP 150 mg/m2/weekly Ruxo 30 mg/m2 Toci 10 mg/2 wk | Relapse/6–1.2 | Dexa 0 mg/m2 Ruxo 30 mg/m2 | Haplo, TCRαβ+/CD19+ depletion | TT 10 mg/kg Treo 36 mg/m2 Flu 150 mg/m2 ATG 5.5 mg/kg Rit 100 mg/Ruxo | 34 mo after HSCT/HLH remission |
| P6/F | u/n | 11/12 | No | Dexa 10 mg/m2 VP 150 mg/m2/weekly MTX + dexa IT | No remission/10–1.5 | Dexa 0.35 mg/m2 VP 150 mg/m2/2 wk MTX + dexa IT | Haplo, TCRαβ depletion | TT 10 mg/kg Treo 42 mg/m2 Flu 150 mg/m2 ATG 5 mg/kg Rit 100 mg/abatacept | Died (post-HSCT complications) |
| P7M | UNC13D (NM_199242.3): c.2346_2349del, p.(Arg782SerfsTer12); c.3011T>C, p.(Leu1004Pro), compound het | 5/6 | Perianal necrotizing dermatitis (Klebsiella pneumoniae ESBL, Enterobacter asburiae ESBL) | HLH-2004 MTX + dexa IT | Relapse/1.5 | Dexa 1.25 mg/m2 VP 150 mg/m2/2 wk CsA MTX + dexa IT | Haplo, TCRαβ+/CD19+ depletion | Аtgam 5 mg/kg Treo 36 mg/m2 Flu 150 mg/m2 Rit 100 mg/CsA, abatacept | 20 mo after HSCT/HLH remission |
Atgam, anti-T lymphocyte immunoglobulin for human use, animal (equine); Mel, melphalan; Rit, rituximab; TLI, total lymphoid irradiation; Flu, fludarabine; Cyc, cyclophosphamide; CsA, cyclosporine; TT, thioTEPA; Treo, treosulfan; ATG, anti-T lymphocyte immunoglobulin for human use, animal (rabbit); GVHD, graft-versus-host disease; VP, etoposide; MTX, methotrexate; Dexa, dexamethasone; Toci, tocilizumab; Ruxo, ruxolitinib; Bari, baricitinib; IT, intrathecally; CMV, cytomegalovirus; ESBL, extended spectrum β-lactamase. The text in italics indicates the medications used for the prophylaxis of acute graft-versus-host disease (GVHD).