Stem cell transplantation in patients with severe congenital neutropenia without evidence of leukemic transformation.

摘要: Severe congenital neutropenia (CN) (Kostmann syndrome) is a hematologic disorder characterized by maturation arrest of myelopoiesis at the promyelocyte/myelocyte stage development. This results in severe leading to absolute neutrophil counts (ANC) below 0.2 x 10(9)/L associated with bacterial infections from early infancy. Data on over 300 patients CN collected Chronic Neutropenia International Registry (SCNIR) beginning 1994 indicate that more than 90% these respond recombinant human granulocyte-colony stimulating factor (r-HuG-CSF) treatment an ANC greater 1. 0 10(9)/L. For who are refractory r-HuG-CSF and continue have often life-threatening infections, hematopoietic stem cell transplantation only currently available treatment. We report total 11 reported SCNIR underwent for reasons other malignant transformation between 1976 1998. Of patients, 8 were nonresponders or showed partial response ongoing infections. Results suggest cells HLA-identical sibling beneficial r-HuG-CSF. (Blood. 2000;95:1195-1198)