adenosine deaminase deficiency
Quick Summary
Adenosine deaminase (ADA) deficiency is a metabolic disorder that leads to a severe combined immunodeficiency (SCID). This condition results in the accumulation of 2\u2032-deoxyadenosine within lymphocytes, causing a reduced number of these crucial white blood cells. Consequently, individuals with ADA deficiency have a drastically increased susceptibility to infections.1
While many immune deficiencies are hereditary, ADA deficiency is a specific genetic defect that impairs the body's ability to fight off infections. Treatments can include bone marrow transplantation, gene therapy, or enzyme replacement therapy.123
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