patient | conditioning regimen | GvHD prophylaxes | outcome | mutation | ref. |
---|---|---|---|---|---|
girl, 2 months | N/A | N/A | died 2 months after HSCT due to VOD | c.1544_1548del5bp (p.K424fs20X), c.1112A > G (p.Q280R) | [18] |
girl, 19 months | N/A | N/A | died due to EBV-associated lymphoproliferative syndrome on day + 50 | c.1544_1548del5bp (p.K424fs20X), c.1112A > G (p.Q280R) | [18] |
girl, 11 years | fludarabine (4 × 30 mg/m2), cyclophosphamide (4 × 10 mg/kg), anti-thymocyte globulin (4 × 15 mg/kg) | cyclosporine A | survived | c.1406G > A (p.G469E), c.2440C > T (p.R814X) | [10] |
girl, 10 years | fludarabine (5 × 35 mg/m2), cyclophosphamide (4 × 10 mg/kg), anti-thymocyte globulin | cyclosporine A | survived, autologous reconstitution, day + 23 | c.1762delAAG (p.K588del), homozygous | [19] |
same girl, 10 years | busulfan (4 × 2 mg/kg), cyclophosphamide (3 × 50 mg/kg), anti-thymocyte globulin | methotrexate, cyclosporine A | survived | c.1762delAAG (p.K588del), homozygous | [19] |
girl, 4 months | fludarabine, thiotepa | cyclosporine A | survived | c.1118A > T (p.H282L), c.1544_1548delAAAGA (p.D423fs442X) | [16] |
girl, 2 years | N/A | N/A | died during preparative therapy for HSCT | c.1118A > T (p.H282L), c.1544_1548delAAAGA (p.D423fs442X) | [16] |
girl, 6 months | busulfan (4 × 16 mg/kg), cyclophosphamide, (4 × 200 mg/kg) | cyclosporine A, methylprednisolone, mycophenolat mofetil | survived | c.845A > T (p.H282L), c.1747_1751del5bp (p.R581fsX) | [17] |
girl, ~ 2 years | busulfan (4 × 50 mg), cyclophosphamide, (4 × 500 mg) | N/A | died due to bradycardia and respiratory arrest | g.5333_5335delCAA (p.Q433del), homozygous | [15] |
boy, 4 years | alemtuzumab (3 × 0,3 mg/kg), anti CD45 (4 × 0,4 mg/kg), fludarabine (5 × 30 mg/kg), cyclophosphamide (4 × 300 mg/m2) | cyclosporine A, mycophenolat mofetil | survived | N/A | [20] |
girl, 19 months | cyclophosphamide (10 mg/kg), fludarabine (30 mg/m2), anti-thymocyte globulin (15 mg/kg) | cyclosporine A, prednisolone | died due to toxic epidermal necrolysis and fungal infection | c.1904delA, c.907G > C | [6] |
boy, 33 months | fludarabine (4 × 40 mg/m2), thiotepa (1 × 10 mg/kg), melphalan (2 × 70 mg/m2), anti-thymocyte globulin (10 mg/kg) | cyclosporine A, prednisolone, methotrexate | died due to aspergillosis | c.845A > T (p.H282L), c.613delT (p.S205LfsX29) | this case |
boy, 18 months | fludarabine (4 × 40 mg/m2), melphalan (2 × 60 mg/m2), anti-thymocyte globulin (10 mg/kg) | T cell-depletion (CD3/CD19 depletion) | survived | c.845A > T (p.H282L), c.613delT (p.S205LfsX29) | this case |