Ontology highlight
ABSTRACT:
SUBMITTER: Sauer AV
PROVIDER: S-EPMC3366410 | biostudies-literature | 2012 Jun
REPOSITORIES: biostudies-literature
Sauer Aisha V AV Morbach Henner H Brigida Immacolata I Ng Yen-Shing YS Aiuti Alessandro A Meffre Eric E
The Journal of clinical investigation 20120524 6
Adenosine deaminase (ADA) gene defects are among the most common causes of SCID. Restoration of purine metabolism and immune functions can be achieved by enzyme replacement therapy, or more effectively by bone marrow transplant or HSC gene therapy (HSC-GT). However, autoimmune complications and autoantibody production, including anti-nuclear antibodies (ANAs), frequently occur in ADA-SCID patients after treatment. To assess whether ADA deficiency affects the establishment of B cell tolerance, we ...[more]