title: Nonmyeloablative allogeneic hematopoietic stem cell transplantation for treatment of Dyskeratosis congenita.
abstract: We describe the treatment of a 10-year-old girl with autosomal recessive Dyskeratosis congenita (DC), neutropenia, thrombocytopenia and combined immunodeficiency by nonmyeloablative hematopoietic stem cell transplantation. The conditioning regimen consisted of fludarabine 30 mg/m(2)/day (days -5, -4, -3) and 2 Gy TBI (0.07 Gy/min; day 0). For graft-versus-host disease (GVHD) prophylaxis a course of intravenous MMF and CSA was administered. At 2 years after transplantation of granulocyte colony-stimulating factor (G-CSF) mobilized peripheral blood stem cells from a healthy 11-year-old HLA-identical brother, peripheral blood counts and T- and B-cell functions have completely normalized and donor chimerism was 100% in all cell lineages. No GVHD occurred. Neurological examination and lung function remained normal. The current transplantation regimen appears suitable, safe and efficacious in patients with DC.
authors.affiliation: Division of Immunology, University Children's Hospital Zürich, Switzerland.
authors.forename: T
authors.initials: T
authors.lastname: Güngör
authors.forename: S
authors.initials: S
authors.lastname: Corbacioglu
authors.forename: R
authors.initials: R
authors.lastname: Storb
authors.forename: R A
authors.initials: RA
authors.lastname: Seger
mesh_terms: D002648:Child; D019871:Dyskeratosis Congenita / Q000628:therapy*; D005260:Female; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D019172:Transplantation Conditioning; D014184:Transplantation, Homologous