Bubble Boy Disease Research Paper

ADA-SCID, or bubble boy disease (“Gene Therapy for”), is a genetic hereditary disorder that affects one’s immune system (“Adenosine Deaminase”). The affected are deprived of basic immunity against viruses, fungi, bacteria and are also susceptible to serious infections that people with a normal functioning immune system do not get. Most victims of this disease are diagnosed in the first half of their lives and if not given proper treatment, the child will most probably not live more than 2 years (“Adenosine Deaminase”). The major symptoms of ADA-SCID are chronic diarrhea, rashes, setback development, pneumonia (“Adenosine Deaminase”), skin infections, respiratory system infections and digestive system infections (“Adenosine Deaminase (ADA)”). ADA is caused by the mutations seen in the ADA gene (“Adenosine Deaminase”), located on the 20th chromosome (“Adenosine Deaminase (ADA)”), which is in charge of creating the enzymes adenosine deaminase (or ADA) that is mostly operating in special white blood cells called lymphocytes.

These particular cells are the ones that protect our bodies from damaging viruses and bacteria by producing antibodies or attacking the intruders themselves.

The purpose of the ADA enzyme is to dispose of a certain molecule called deoxyadenosine which is produced when DNA is deteriorated, this is a toxin that poses a threat to the lymphocytes. The ADA enzyme converts the deoxyadenosine to a different molecule called deoxyinosine which is not noxious for the lymphocytes. However, if there are mutations in the ADA gene it could cause the reduction or termination of the ADA enzyme’s procedures which would allow a growth in the deoxyadenosine numbers that would become noxious for the lymphocytes. The deprivation of these cells results in an inability to fight off harmful intruders which causes ADA-SCID (“Adenosine

Deaminase”). “ADA-SCID is an autosomal recessive disorder” which means that both of the child's parents must have been carrying a replica of the defected gene for the child to have ADA-SCID (“Adenosine Deaminase (ADA)”). ADA-SCID has a few treatments, the best one is thought to be “a bone marrow transplant from an immunologically matched sibling” However this procedure is only 70% sucessful and if a donor for the bone marrow is not found, the hope lies in gene therapy (Hayden).