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Adenosine deaminase (ADA) deficiency: A genetic (inherited) condition that results in a immune deficiency disorder called severe combined immunodeficiency disease. Adenosine deaminase is an enzyme that plays a key role in salvaging purine molecules.
ADA deficiency is of special interest in the history of genetics. The first successful instance of gene therapy in humans was carried out in 1990 by Drs. W. French Anderson, R. Michael Blaese and Kenneth W. Culver who infused genetically engineered blood cells to repair ADA deficiency.
What is Adenosine deaminase (ADA) deficiency? ADA deficiency is one form of SCID (severe combined immunodeficiency), a type of disorder that affects the immune system.
Disease characteristics. Adenosine deaminase (ADA) deficiency is a systemic purine metabolic disorder that primarily affects lymphocyte development and function.
Adenosine deaminase (ADA) deficiency is an inherited disorder that damages the immune system and causes severe combined immunodeficiency (SCID).
Figure 1: A Chime view of adenosine deaminase. This is ADA1, a 349 amino-acid enzyme. This structure has a His 238 Ala Mutation. Authors: D.K.Wilson & F.A.Quiocho.
Adenosine Deaminase Deficiency (ADA) Adenosine Deaminase Deficiency, commonly called ADA deficiency, is a very rare genetic disorder, documented as occurring in only a ...