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Choose one of the following diseases:

  • X-linked Agammaglobulinemia
  • CD40 Ligand Deficiency
  • Acitvation-Induced Cytidine Deaminase Deficiency
  • Common Variable Immunodeficiency

answer the following questions:

  1. What are the cellular/molecular mechanisms that underlie this disease? (What are actual “abnormalities” or “deficiencies” causing the disease?)
  2. How common is this disease? Are there any particular susceptibility groups? (Be sure to also consider any genetic or environmental susceptibilities.)
  3. What are the disease symptoms?
  4. What mechanisms are responsible for these disease symptoms? (Note: this is different from the answer to question 1.)
  5. How is the diagnosis made? What particular clinical tests are used to make this diagnosis? This answer needs to be precise and specific. For example, “blood test” is not a sufficient answer. Your answer must indicate what cellular or molecular components are measured and how, and what particular parameters are used to make the disease diagnosis.
  6. What is the prognosis for someone with this disease?
  7. What are the treatment options? (Be sure to mention mechanisms of action of treatments and to consider novel treatments recently approved or in development.)

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