Adenosine deaminase deficiency
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| Adenosine deaminase deficiency Classification and external resources | |
| ICD-10 | D81.3 |
|---|---|
| ICD-9 | 279.2 |
| OMIM | 102700 |
| DiseasesDB | 260 |
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Adenosine deaminase deficiency, or ADA deficiency, is an inherited immunodeficiency syndrome accounting for about 25% of all cases of severe combined immunodeficiency (SCID).
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.
Treatment
- bone marrow transplant
- gene therapy (efforts halted due to increased incidence of leukemia)
- ADA enzyme in PEG vehicle
- Stem Cell Therapy(still in the experimental stage)
The first gene therapy to combat this disease was performed by Dr. W. French Anderson on a 4yr old girl, Ashanti DeSilva, in 14 September 1990 at the National Institute of Health, Bethesda, Maryland, U.S.A.
The therapy performed was the first successful case of gene therapy.
External links
- Gene Therapy: A Brief History: [2]
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fr:Déficit immunitaire combiné sévère par déficit en adénosine désaminase it:Deficit di adenosina deaminasi
Acknowledgement and Attribution Regarding Sources of Content
Some of the initial content on this page may be incorporated in part from copyleft sources in the public domain including wikis such as Wikipedia and AskDrWiki. Drug information for patients came from the The National Library of Medicine. Infectious disease information may have come from the Centers for Disease Control (CDC). Differential Diagnoses are drawn from clinicians as well as an amalgamation of 3 sources: 1.The Disease Database; 2. Kahan, Scott, Smith, Ellen G. In A Page: Signs and Symptoms. Malden, Massachusetts: Blackwell Publishing, 2004:3; 3. Sailer, Christian, Wasner, Susanne. Differential Diagnosis Pocket. Hermosa Beach, CA: Borm Bruckmeir Publishing LLC, 2002:7 .
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