title: Stem cell transplantation in patients with severe congenital neutropenia without evidence of leukemic transformation.
abstract: Severe congenital neutropenia (CN) (Kostmann syndrome) is a hematologic disorder characterized by a maturation arrest of myelopoiesis at the promyelocyte/myelocyte stage of development. This arrest results in severe neutropenia leading to absolute neutrophil counts (ANC) below 0.2 x 10(9)/L associated with severe bacterial infections from early infancy. Data on over 300 patients with CN collected by the Severe Chronic Neutropenia International Registry (SCNIR) beginning in 1994 indicate that more than 90% of these patients respond to recombinant human granulocyte-colony stimulating factor (r-HuG-CSF) treatment with an ANC greater than 1. 0 x 10(9)/L. For patients who are refractory to r-HuG-CSF treatment and continue to have severe and often life-threatening bacterial infections, hematopoietic stem cell transplantation is the only currently available treatment. We report on a total of 11 patients with CN reported to the SCNIR who underwent transplantation for reasons other than malignant transformation between 1976 and 1998. Of these patients, 8 were nonresponders or showed only partial response to r-HuG-CSF treatment with ongoing infections. Results from these patients suggest that transplantation of stem cells from an HLA-identical sibling is beneficial for patients refractory to r-HuG-CSF. (Blood. 2000;95:1195-1198)
authors.affiliation: Medizinische Hochschule, Hannover, Germany. zeidler.cornelia@mh-hannover.de
authors.forename: C
authors.initials: C
authors.lastname: Zeidler
authors.forename: K
authors.initials: K
authors.lastname: Welte
authors.forename: Y
authors.initials: Y
authors.lastname: Barak
authors.forename: F
authors.initials: F
authors.lastname: Barriga
authors.forename: A A
authors.initials: AA
authors.lastname: Bolyard
authors.forename: L
authors.initials: L
authors.lastname: Boxer
authors.forename: G
authors.initials: G
authors.lastname: Cornu
authors.forename: M J
authors.initials: MJ
authors.lastname: Cowan
authors.forename: D C
authors.initials: DC
authors.lastname: Dale
authors.forename: T
authors.initials: T
authors.lastname: Flood
authors.forename: M
authors.initials: M
authors.lastname: Freedman
authors.forename: H
authors.initials: H
authors.lastname: Gadner
authors.forename: H
authors.initials: H
authors.lastname: Mandel
authors.forename: R J
authors.initials: RJ
authors.lastname: O'Reilly
authors.forename: U
authors.initials: U
authors.lastname: Ramenghi
authors.forename: A
authors.initials: A
authors.lastname: Reiter
authors.forename: R
authors.initials: R
authors.lastname: Skinner
authors.forename: C
authors.initials: C
authors.lastname: Vermylen
authors.forename: J E
authors.initials: JE
authors.lastname: Levine
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D016179:Granulocyte Colony-Stimulating Factor / Q000627:therapeutic use; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007223:Infant; D008297:Male; D009503:Neutropenia / Q000151:congenital / Q000628:therapy*; D011994:Recombinant Proteins; D013577:Syndrome
chemical_list: D011994:Recombinant Proteins; D016179:Granulocyte Colony-Stimulating Factor