World Genetic Disease Project - Severe Combined Immunodeficiency
World Genetic Disease Project- Severe Combined Immunodeficiency
Severe Combined Immunodeficiency (SCID) or more commonly known as the bubble boy disease can cause newborns to have a weak or no immune system. It causes them to get infectious diseases that can kill them but if treated and diagnosed soon enough it can go away. A magority of the people that have SCID are treated for an X-linked SCID which can be responsible for about 45% of all SCID cases (Otsu and Candotti pg. 479).
The first cases of the bubble boy disease was in 1950 in Switzerland. It was shrugged off the shoulder at first, it wasn’t until the 1980s when it became more known. David Vetter lived in a plastic bubble to he wouldn’t be able to catch any diseases. He sadly died at the age of 12 due to a bone marrow transplant that had gone bad. His family had a hard time because he wasn't able to do many of the things that other could do, so his family gave him everything that they could. Going outside or even being mobile required a specially made suit from NASA.
The effects of the disease can cause the newborn boys to have many severe diseases that are life threatening. In cases like David’s it can make people feel isolated, because there aren't that many people in the world that have SCID. “There is no central record of how many babies are diagnosed with SCID in the United States each year, but the best estimate is somewhere around 40-100. So, SCID is a rare condition.” (NHGRI)
SCID will mainly affect newborn boys. The symptoms of the individual don't really change overtime because in most cases the child will die at least by the age of two; if lucky they can live that out. Parents start to make the decision to help their child with different form of treatment. The isn’t one organ that is affected all alone but it does affect the immune system all together.
SCID is only inherited through males since they only have one X chromosome which would make SCID a dominant trait in the offspring/child. The X chromosome gets mutated to a gene called IL2RG. It cannot happen to a woman because they have an extra X chromosome that can make up for the other mutated X chromosome.
When mutations in 0the IL2RG is affected they don’t make enough protein for the immune system to work. The protein makes lymphocytes in which they “defend the body against potentially harmful invaders, make antibodies, and help regulate the entire immune system.” (Genetic Home Reference) Despite the mutation there are ways that SCID can be treated
Bone marrow transplant is the most common form of treatment towards patients that have SCID. According to Seattle Cancer Care Alliance (SCCA) at some point all patients will receive a bone marrow transplant. It is very successful and an effective way to get rid of diseases/viruses. Another common form of treatment is Gene therapy. Gene therapy helps fix the mutation in the gene. It has been both successful and unsuccessful to patients. “At this point, gene therapy is still considered an investigational treatment option” (SCCA). Enzyme replacement therapy is the another way for treatment. During this process the immune cells can recover and it can last a long time.
SCID can first be detected while in the womb as a fetus. It is tested through blood samples of both parents. The medical history of the parents can be looked at and if the child is born than they can look at the child's medical history. There