ADA deficiency: Lack of normal adenosine deaminase (ADA) activity, a genetic (inherited) condition causing one form of severe combined immunodeficiency ((SCID) disease. It is said to be "combined" in that there is dysfunction of both B and T lymphocytes with impaired cellular immunity and decreased production of immunoglobulins. Adenosine deaminase is an enzyme that plays a key role in salvaging purine molecules.
The ADA gene is located on chromosome 20 in the region of bands q12-q13.11. The complete sequence and structure of the gene is known. A variety of mutant alleles (altered forms of the gene) have been identified, including basepair substitutions and deletions.
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.
This web page was produced as an assignment for an undergraduate course at Davidson College.
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).
ADA deficiency is an inherited condition that occurs in fewer than one in 100,000 live births worldwide. Individuals with ADA deficiency inherit defective ADA genes and ...