Journal of Next Generation Sequencing & Applications

ISSN - 2469-9853

+44 1250400002


Update on gene therapy and other treatment modalities for adenosine deaminase deficiency

Dr. Daifulah ALZahrani

Adenosine deaminase (ADA) deficiency is one of the primary immunodeficiency diseases, that affects the immune system through accumulated metabolites of purine metabolism. It is an autosomal-recessive disorder with an estimated incidence around 0.5 per 100,000 live births. Patients with severe form usually present in infancy where the accumulation of the toxic metabolites; deoxyadenosine and deoxyadenosine triphosphate (dAXP), causing defective differentiation and function of immune cells; T, B, and natural killer (NK) leading to severe combined immunodeficiny.