Nonmyeloablative allogeneic hematopoietic stem cell transplantation for treatment of Dyskeratosis congenita.

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/m2/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.Bone Marrow Transplantation (2003) 31, 407-410. doi:10.1038/sj.bmt.1703844 [ABSTRACT FROM AUTHOR]