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Adenosine deaminase deficiency
Adenosine deaminase deficiency, or ADA deficiency, is an inherited immunodeficiency syndrome accounting for about 25% of all cases of severe combined immunodeficiency (SCID).
Additional recommended knowledge
This disease is due to a lack of the enzyme adenosine deaminase coded for by a gene on chromosome 20. There is an accumulation of dATP, which causes an increase in S-adenosylhomocysteine; both substances are toxic to immature lymphoid cells, so fail to reach maturity. As a result, the immune system of the afflicted person is severely compromised or completely lacking.
The enzyme adenosine deaminase is important for purine metabolism.
On September 14, 1990, the first gene therapy to combat this disease was performed by Dr. W. French Anderson on a four year old girl, Ashanti DeSilva, at the National Institute of Health, Bethesda, Maryland, U.S.A.
The therapy performed was the first successful case of gene therapy.
|This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "Adenosine_deaminase_deficiency". A list of authors is available in Wikipedia.|