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Adenosine deaminase deficiency, also called ADA deficiency or ADA-SCID,[1] is an autosomal recessive[2] metabolic disorder that causes immunodeficiency.
It accounts for about 15% of all cases of severe combined immunodeficiency (SCID).[3]
ADA deficiency may present in infancy, childhood, adolescense, or adulthood.[1] Age of onset and severity is related to some 29 known genotypes associated with the disorder.[4]
ADA deficiency is due to a lack of the enzyme adenosine deaminase coded for by a gene on chromosome 20. There is an accumulation of deoxyadenosine,[5] which causes an increase in S-adenosylhomocysteine; both substances are toxic to immature lymphocytes, which thus fail to mature. As a result, the immune system is severely compromised or completely lacking.
The enzyme adenosine deaminase is important in the purine salvage pathway.
Treatments include:
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 Institutes of Health, Bethesda, Maryland, U.S.A.[6]
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