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Unrelated bone marrow transplantation using a reduced-intensity conditioning regimen for the treatment of Kostmann syndrome

Bone Marrow Transplantation volume 38, pages 635–636 (2006)Cite this article

Kostmann1 originally described an inherited hematological disorder with severe neutropenia with an absolute neutrophil count (ANC) <0.2 × 109/l and an early onset of severe bacterial infections in 1956. The estimated frequency of this disorder is 1–2 cases per million with an equal distribution for gender.2 Sepsis mortality has been reduced by treatment with granulocyte colony-stimulating factor (G-CSF), and the cumulative incidence of death from sepsis has been reported to be 8% after 10 years on G-CSF therapy.3 In some patients who survived infections and treatment, however, the disease was reported to progress into myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Allogeneic hematopoietic stem cell transplantation (HSCT) is the only curative treatment option for patients with human leukocyte antigen (HLA)-compatible donors.4 However, there are certain risks related with this regimen regarding toxicity and treatment-related mortality for HSCT with the myeloablative conditioning regimen. In addition, myeloablative regimens that include total body irradiation may result in long-term complications such as growth retardation, problem with the endocrine functions, fertility, learning disabilities and the occurrence of second malignant neoplasms. On the other hand, reduced-intensity conditioning (RIC) regimens for HSCT have been expected to be able not only to reduce the regimen related toxicity but also to prevent long-term complications. We herein report the first case to undergo an unrelated bone marrow transplantation (BMT) with fludarabine (Flu)-based RIC for the treatment of a patient with Kostmann syndrome.

The patient was the first-born child who was delivered at full term, and initially presented with cervical impetigo at 3 weeks of age. The patient's ANC was 0/μl and her bone marrow revealed a maturation arrest of neutrophil precursors at an early stage with few cells of the neutrophilic series beyond the promyelocyte stage. Based on these findings, a diagnosis of Kostmann syndrome was made. Her hematopoietic abnormality was limited to the granulocytic lineage, and her ANC never increased with neither the infections nor G-CSF. She had never had life-threatening infections and the disease had shown neither clonal evolution nor MDS/AML.

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Authors and Affiliations

  1. Section of Pediatrics, National Kyushu Cancer Center, Fukuoka, Japan

    R Fukano, Y Nagatoshi, Y Shinkoda, Y Saito, D Takahashi, M Hatanaka & J Nagayama

  2. Department of Pediatrics, Yamaguchi University School of Medicine, Yamaguchi, Japan

    H Ayukawa

  3. Institute for Clinical Research, National Kyushu Cancer Center, Fukuoka, Japan

    J Okamura

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  1. R Fukano
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  2. Y Nagatoshi
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  3. Y Shinkoda
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  4. Y Saito
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  5. D Takahashi
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  6. M Hatanaka
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  7. J Nagayama
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  8. H Ayukawa
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  9. J Okamura
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Correspondence to Y Nagatoshi.

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Fukano, R., Nagatoshi, Y., Shinkoda, Y. et al. Unrelated bone marrow transplantation using a reduced-intensity conditioning regimen for the treatment of Kostmann syndrome. Bone Marrow Transplant 38, 635–636 (2006). https://doi.org/10.1038/sj.bmt.1705492

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