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Scid

Submitted by laurascott on February 10, 2008

Category: Miscellaneous
Words: 2247 | Pages: 9
Views: 125
Popularity Rank: 97,872
Average Member Grade: N/A (Add a Comment / Grade this Paper)

Severe combined immunodeficiency (SCID) is a rare fatal disorder that occurs in approximately 1 in 75,000 children, usually leading to infant death within one year from birth (Cavazzana-Calvo, et al. pg 202). Patients suffering from SCID have genetic mutations that prevent their immune system from properly developing and functioning, which leads to recurrent and eventually lethal infections. (Kohn, Michel, and Glorioso pg 479)
Most of these patients are diagnosed with a type of SCID called X-linked SCID, which is responsible for about 45% of all SCID cases (Otsu and Candotti pg 233). Allogeneic Bone Marrow transplant (BMT) has been the most commonly used treatment for X-linked SCID patients. However, I believe gene therapy should become the main course of treatment because of the several complications involved with allogeneic BMT and the recent achievements in the development of gene therapy for X-linked SCID.
As the name X-linked SCID suggests, this type of primary immunodeficiency is inherited through an X-linkage pattern, meaning that the mutant gene that is responsible for this disorder is located in the X chromosome but not in the Y. Since SCID is also considered a recessive disorder, it is usually inherited from carrier mothers, unaffected females that contain one normal and one mutated copy of the gene. The son of a carrier has a 50 percent chance of inheriting the disorder while the daughter needs two mutant X chromosomes, thus the father would have to be affected and somehow have survived long enough in order to reproduce and pass on his mutated copy of the gene. Consequently, males tend to be affected by X-linked SCID much more frequently than females. (Griffiths, et al. pg 63, 64, 71, 72)
X-linked SCID is caused by a mutation in the IL2RG gene that encodes the Y-common chain. Many cytokine receptors (IL-2, IL-4, IL-7, IL-9, IL-15 and IL-21), receptors that influence and regulate cell behavior, utilize this Y-common chain for...

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