Adenosine deaminase deficiency
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| Adenosine deaminase deficiency Classification and external resources |
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| ICD-10 | D81.3 |
|---|---|
| ICD-9 | 279.2 |
| OMIM | 102700 |
| DiseasesDB | 260 |
Adenosine deaminase deficiency, or ADA deficiency, is an autosomal recessive immunodeficiency syndrome.
It accounts for about 15% of all cases of severe combined immunodeficiency (SCID).[1]
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[edit] Pathophysiology
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,[2] 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.
[edit] Treatment
Treatments include:
- bone marrow transplant
- gene therapy
- ADA enzyme in PEG vehicle
- Stem cell therapy (still in the experimental stage)
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.[3]
[edit] References
- ^ Adenosine deaminase deficiency - Genetics Home Reference. Retrieved on 2008-02-28.
- ^ Adenosine Deaminase (ADA) Deficiency. Retrieved on 2008-02-28.
- ^ 'More Than Human' - New York Times. Retrieved on 2008-02-28.
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This article needs additional citations for verification. Please help improve this article by adding reliable references. Unsourced material may be challenged and removed. (March 2008) |
[edit] External links
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