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.