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Adenosine deaminase deficiency

Adenosine deaminase deficiency
Classification & external resources
ICD-10 D81.3
ICD-9 279.2
OMIM 102700
DiseasesDB 260

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.


Treatments include:

  • 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)

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.

External link

  • Gene Therapy: A Brief History: [1]
  • Gene Therapy Net

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.
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