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


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 × 107 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 × 109/l on day 14, reticulocyte 1% on day 13 and platelet count over 50 × 109/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.

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  1. Kostmann R . Infantile genetic agranulocytosis. Acta Pediatr Scand 1956; 45: 1–78.

    Article  CAS  Google Scholar 

  2. Horwitz M, Benso KF, Person RE et al. Mutation in ELA2, encoding neutrophil elastase, define a 21-day biological clock in cyclic haematopoiesis. Nat Genet 1999; 23: 433–436.

    Article  CAS  Google Scholar 

  3. Dale C, Person E, Bolyard A et al. Mutation in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood 2000; 96: 2317–2322.

    CAS  PubMed  Google Scholar 

  4. Bonilla MA, Gillio AP, Ruggeiro M et al. Effects of recombinant human granulocyte colony-stimulating factor on neutropenia in patients with congenital agranulocytosis. N Engl J Med 1989; 320: 1574–1580.

    Article  CAS  Google Scholar 

  5. Welte K, Zeidler C, Reiter A et al. Differential effects of granulocyte–macrophage colony-stimulating factor and granulocyte colony-stimulating factor in children with severe congenital neutropenia. Blood 1990; 75: 1056–1063.

    CAS  PubMed  Google Scholar 

  6. Dong F, Hoefsloot HL, Schelen AM et al. Identification of a nonsense mutation in the granulocyte-colony-stimulating factor receptor in severe congenital neutropenia. Genetics 1994; 91: 4480–4484.

    CAS  Google Scholar 

  7. Jeha S, Chan KW, Aprikyan AG et al. Spontaneous remission of granulocyte colony-stimulating factor-associated leukemia in a child with severe congenital neutropenia. Blood 2000; 96: 3647–3649.

    CAS  PubMed  Google Scholar 

  8. Dong F, Brynes RK, Tidow N et al. Mutation in the gene for the granulocyte colony-stimulating-factor receptor in patients with acute myeloid leukemia preceded by severe congenital neutropenia. N Engl J Med 1995; 333: 487–493.

    Article  CAS  Google Scholar 

  9. Tidow N, Pilz C, Teichmann B et al. Clinical relevance of point mutation in the cytoplasmic domain of the granulocyte colony-stimulating factor receptor gene in patients with severe congenital neutropenia. Blood 1997; 89: 2369–2375.

    CAS  PubMed  Google Scholar 

  10. Welte K, Dale D . Pathophysiology and treatment of severe chronic neutropenia. Ann Hematol 1996; 72: 158.

    Article  CAS  Google Scholar 

  11. Hermans MH, Antonissen C, Ward AC et al. Sustained receptor activation and hyperproliferation in response to granulocyte colony-stimulation factor (G-CSF) in mice with a severe congenital neutropenia/acute myeloid leukemia derived mutation in the G-CSF receptor gene. J Exp Med 1999; 189: 683–692.

    Article  CAS  Google Scholar 

  12. Zeidler C, Welte K, Barak Y et al. Stem cell transplantation in patients with severe congenital neutropenia without evidence of leukemic transformation. Blood 2000; 95: 1195–1198.

    CAS  Google Scholar 

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Correspondence to E Mino.

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Mino, E., Kobayashi, R., Yoshida, M. et al. Umbilical cord blood stem cell transplantation from unrelated HLA-matched donor in an infant with severe congenital neutropenia. Bone Marrow Transplant 33, 969–971 (2004).

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  • severe congenital neutropenia
  • Kostmann syndrome
  • rhG-CSF

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