Umbilical cord blood stem cell transplantation from unrelated HLA-matched donor in an infant with severe congenital neutropenia

Bone Marrow Transplant. 2004 May;33(9):969-71. doi: 10.1038/sj.bmt.1704439.

Abstract

We report here a 6-month-old boy with severe congenital neutropenia (SCN) successfully treated by cord blood stem cell transplantation (CBSCT) from an unrelated donor. He had recurrent life-threatening respiratory infection due to severe neutropenia that was refractory to recombinant human granulocyte colony-stimulating factor (rhG-CSF). Because he had no HLA-matched sibling and no time to wait for unrelated donor, he received HLA-matched unrelated CBSCT as determined by DNA typing. A total of 6.4 x 10(7) CB nucleated cells/kg was infused after conditioning with busulfan/horse antihuman thymocyte serum/cyclophosphamide. No GVHD developed under the treatment with cyclosporin A and methyl prednisolone. The neutrophil count reached 0.5 x 10(9)/l on day 14, reticulocyte 1% on day 13 and platelet count over 50 x 10(9)/l on day 31. We conclude that unrelated CBSCT can be an indication for some cases of SCN, who have recurrent life-threatening infections and are refractory to rhG-CSF, and have no HLA-matched sibling.

MeSH terms

  • Busulfan / pharmacology
  • Cord Blood Stem Cell Transplantation / methods*
  • Cyclophosphamide / pharmacology
  • Cyclosporine / pharmacology
  • DNA Fingerprinting
  • DNA Mutational Analysis
  • Granulocyte Colony-Stimulating Factor / therapeutic use
  • HLA Antigens / chemistry*
  • Histocompatibility Testing
  • Humans
  • Infant
  • Male
  • Methylprednisolone / pharmacology
  • Neutropenia / therapy*
  • Neutrophils / metabolism
  • Recombinant Proteins / therapeutic use
  • Respiratory Tract Infections / etiology
  • Time Factors
  • Tissue Donors
  • Tomography, X-Ray Computed
  • Transplantation Conditioning
  • Transplantation, Homologous

Substances

  • HLA Antigens
  • Recombinant Proteins
  • Granulocyte Colony-Stimulating Factor
  • Cyclosporine
  • Cyclophosphamide
  • Busulfan
  • Methylprednisolone