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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). more...

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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

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.

Read more at Wikipedia.org


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Gene therapy proposal gains acceptance - to treat children with adenosine deaminase deficiency
Gene therapy proposal gains acceptance On June 1, a National Institutes of Health (NIH) subcommittee approved use of an experimental gene therapy to ...
Gene therapists told to do homework - using PEG-ADA and gene therapy to treat adenosine deaminase deficiency
Gene therapists told to do more homework In their initial request to a National Institutes of Health subcommittee last week, federal researchers failed ...
First human gene-therapy test begun - using PEG-ADA to treat children with adenosine deaminase deficiency
First Human Gene-Therapy Test Begun Culminating years of laboratory studies, legal wrangling, and scientific and ethical debate, researchers at the National Institutes of Health last week performed
Enzyme ruse successful - method to protect adenosine deaminase from destruction by immune system
Enzyme ruse successful A method of protecting a therapeutic enzyme from destructionby the immune system has proven "remarkably successful,' says Rebecca ...
Adenosine deaminase polymorphisms at the protein and DNA levels
Abstract Adenosine deaminase (ADA, E.C. 3.5.4.4) exhibits a wellknown polymorphism at the protein level. We have studied ADA and an STR polymorphism exhibiting ...
Sneaking in a therapeutic enzyme - adenosine deaminase
Sneaking in a therapeutic enzyme The body's normal functions can work at cross purposes to a person's survival. Such is the case when the enzyme adenosine ...
Early results of gene therapy encouraging - being tested as a treatment for immune deficiency
Early Results of Gene Therapy Encouraging Less than months after she received the first federally approved infusion of genetically engineered cells to cure a disease, a young girl with a life-threa
Gene therapy's up … - successful in treatment of fatal ADA-deficiency disease in which the T-cells are poisoned - Biology - Brief Article
The recent roller-coaster ride of gene therapy's fortunes continues, with peaks and valleys occurring almost monthly. In September, two studies reporting ...

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