Work

Outcome after Stem Cell Transplant in Patients with Dyskeratosis Congenita

Year: 2014

Type: article

Abstract: Dyskeratosis congenita is a rare inherited bone marrow failure and cancer predisposition syndrome with multisystem involvement. While allogeneic hematopoietic stem cell transplant (HSCT) can cure the bone marrow failure, reported survival is low, with patients suffering unusual complications post HSCT. We describe the long term outcome in 6 patients with mutation proven DC following an allo-HSCT at our institution between 1997–2011. To our knowledge this is the first report to begin to correlate genotype to phenotype post HSCT.

Source: Transplantation and Cellular Therapy

DOI: 10.1016/j.bbmt.2013.12.291