Read the case study and review the resources before completing the questions. Record your answers on a Word Document and include references in APA format for the resources you use to answer the assigned questions. This assignment is worth 15 points.
Severe Combined Immunodeficiency (SCID)
An eight month old with X-linked SCID is being evaluated for treatment options. The parents have just learned the diagnosis. They are seeking information about possible interventions. They have read, on the internet, about several options and would like some information on how to decide which is best for them. The specific treatment options they mention include: stem cell transplant, isolation like the “bubble boy”, protein replacement therapy, and gene therapy.
For background information, in section 19.3 of your textbook read the content under the heading Inherited Immune Deficiencies. You may also wish to review the following websites:
Severe Combined Immunodeficiency Resources
U.S. National Library of Medicine. (2020). X-linked severe combined immunodeficiency. MedlinePlus.
University of Utah. (n.d.). Examples of Single Gene Disorders: Severe Combined Immunodeficiency. Learn Genetics.
(Click on “Severe Combined Immunodeficiency”)
Allenspach, E., Rawlings, D.J., Scharenberg, A.M. (2002 [last update Apr. 2016]). X-linked Severe Combined Immunodeficiency. GeneReviews.
Stanford School of Medicine. (2019). Scientists use CRISPR for possible bubble boy therapy.
National Institutes of Health. (2019). Gene therapy restores immunity in infants with rare immunodeficiency disease.
After familiarizing yourself with SCID, concisely answer the following questions:
What gene mutation is associated with the X-linked form of SCID? (2 pts)
How does this mutation impact the immune system and what are the resulting symptoms/consequences? (4 pts)
How urgent is this situation? Explain. (3 pts)
The case study lists a few treatment options. Which would you recommend and why? (3 pts)
In the future, is gene editing a promising therapy for treating SCID? Explain the procedure of how this therapy will work. (3 pts)
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