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Table 1 Summary of the literature. Conditioning regimen, GvHD prophylaxes, mutations and outcome of the published case reports of HSCT in patients with ligase IV deficiency

From: Allogeneic hematopoietic stem cell transplantation in two brothers with DNA ligase IV deficiency: a case report and review of the literature

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

  1. Abbreviations: N/A Not applicable