Ontology highlight
ABSTRACT:
SUBMITTER: Aspesi A
PROVIDER: S-EPMC6637096 | biostudies-literature | 2018
REPOSITORIES: biostudies-literature
Aspesi Anna A Borsotti Chiara C Follenzi Antonia A
Current gene therapy 20180101 6
Diamond Blackfan Anemia (DBA) is an inherited erythroid aplasia with onset in childhood. Patients carry heterozygous mutations in one of 19 Ribosomal Protein (RP) genes, that lead to defective ribosome biogenesis and function. Standard treatments include steroids or blood transfusions but the only definitive cure is allogeneic Hematopoietic Stem Cell Transplantation (HSCT). Although advances in HSCT have greatly improved the success rate over the last years, the risk of adverse events and mortal ...[more]