DeChristoforoC+ADA+Deficiency

Adenosine Deaminase Deficiency ADA deficiency is the result of a mutation in a gene on chromosome twenty. This results in the absence of adenosine deaminase, which leads to a build-up of toxin called deoxyadenosine. The toxin destroys infection fighting immune cells, creating a crippled immune system.
 * Description: **


 * Inheritance: **

The disorder is an autosomal recessive inherited disease. In order to pass it on, both parents must be carriers. If both parents are carriers, typically the fourth child is affected by the disease.

The disease causes the affected to live with a crippled immune system. This means they are far more likely to be struck by infection than the typical human. Those affected by the disease usually live a shorter life than those without the disease.
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 * Daily Life: **

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 * Diagnosis: **

A method of detecting ADA deficiency, as well as many other genetic disorders is gene sequencing, because, as you know, the disorder is transferred genetically. The other clinically available treatment is deletion/duplication analysis, which detects large deletions caused by the disorder.

As of now, there are three main methods of treatment. One of the three is a bone marrow transplant. Gene therapy is also being used to treat the disorder, first attempted in September of 1990. Having the ADA enzyme transferred through a PEG vehicle is an additional treatment.
 * Treatment: **

There is quite a bit of research going on in terms of analyzing and making attempts to treat and prevent the disorder. Gene therapy is one of the methods researchers are looking into. Not only would success guarantee hope for those affected by ADA deficiency, but for those affected by all genetic disorders. Another method is to track the natural history of SCID disorders. Researchers are doing all they can to increase the quality of life for those affected by the disorder.
 * Research: **

Sufferers of ADA deficiency account for fifteen percent of all people affected by severe immunodeficiency. The disorder can be present at any point in those of us who face the disease’s lives.
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 * <span style="color: black; font-family: Times,serif; font-size: 12pt;">Pedigree Chart: **

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Genetics Home Reference [] GeneReviews []

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