Abstract
We report a CD40 ligand deficiency (CD40LD) patient who was successfully treated with unrelated cord blood transplantation (URCBT). Conditioning regimen was busulfan and cyclophosphamide. The clinical course was uneventful and durable engraftment was achieved. This successful case encourages the use of URCB as an alternative donor source for CD40LD patients.
MeSH terms
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Agammaglobulinemia / genetics
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Agammaglobulinemia / therapy*
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Busulfan / administration & dosage
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CD40 Antigens / deficiency*
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Cord Blood Stem Cell Transplantation*
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Cyclophosphamide / administration & dosage
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Genetic Diseases, Inborn / genetics
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Genetic Diseases, Inborn / therapy*
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Graft Survival
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Humans
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Infant
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Living Donors*
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Male
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Neutropenia / genetics
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Neutropenia / therapy*
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Transplantation Conditioning*
Substances
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CD40 Antigens
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Cyclophosphamide
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Busulfan