RNAseq Supports the Molecular Genetic Diagnosis of Late-Onset ADA Deficiency
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Clinical Immunology"
DOI: 10.1007/s10875-019-00625-4
Abstract: To the Editor: Adenosine deaminase (ADA) deficiency is an autosomal recessive disorder of purine metabolism that typically presents as a severe combined immunodeficiency in infancy (OMIM: 102700). Approximately 10–15% of patients have a delayed clinical… read more here.
Keywords: ada deficiency; molecular genetic; immunology; diagnosis ... See more keywords
Gene therapy for the treatment of adenosine deaminase-deficient severe combined immune deficiency
Sign Up to like & getrecommendations! Published in 2017 at "Expert Opinion on Orphan Drugs"
DOI: 10.1080/21678707.2017.1325360
Abstract: ABSTRACT Introduction: Adenosine deaminase (ADA) deficiency was the first human disease treated with gene therapy. Initial trials established proofs of concepts, but did not lead to cure of the severe combined immune deficiency that is… read more here.
Keywords: therapy; adenosine deaminase; gene therapy; ada deficiency ... See more keywords