Severe combined immunodeficiency

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Reference no: EM132703916

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.

After familiarizing yourself with SCID, concisely answer the following questions:

  1. What gene mutation is associated with the X-linked form of SCID?
  2. How does this mutation impact the immune system and what are the resulting symptoms/consequences?
  3. How urgent is this situation? Explain
  4. The case study lists a few treatment options. Which would you recommend and why?

Reference no: EM132703916

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