Severe Combined Immunodeficiency Disorder Analysis

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Severe Combined Immunodeficiency Disorder (SCID) is a rare condition in which those affected have little to no immune system. This is because “some of the cells in the immune system that fight infections (T cells and B cells) are missing or do not work well” (Puck). As a result, they are extremely susceptible to a wide variety of infections from viruses, bacteria, germs, etc. “There are about 100 different types of SCID (Puck).” The two most common types are X-SCID and ADA SCID. X-SCID is caused by a mutation in the X chromosome. Since this is the case, it is more likely for males to get this disorder since they have only one X Chromosome. A female has to get the deformity on both of their X chromosomes to be affected. If a female gets only one of their X chromosomes affected, then they become a carrier of the disorder and are not affected. Specifically the gene Il2RG is affected which is located at the locus xq13.1 on the X-chromosome. This region normally controls the encoding of a protein that constructs a receptor called interleukin-2. Also it “creates a key part of a receptor on the surface of a lymphocyte which, when activated by chemical messengers called cytokines, transmits information that directs lymphocytes to mature, proliferate and mobilize to fight infection” (Green). The purpose of this receptor is to allow T cells and B cells to communicate with each other. When the mutation is present, T cells and B cells cannot communicate with each other; therefore, cause the immune system to be unaware of invading pathogens. The body can now not fight off infections and is rendered defenceless. X-SCID is X-linked recessive which means it is inherited via the X chromosome and can only be recessive in females because they have ...

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