Research

research and describe the clinical consequences of immune deficiencies or abnormalities related to topics covered in module .  At least three online resources (not including Wikipedia) must be listed below to receive credit for the assignment. Complete your work as a word document saved as  Answers to the questions should be in complete sentences, 1-10 sentences per answer.

Choose one of the following diseases:

  • Adenosine Deaminase Deficiency
  • X-linked Severe Combined Immunodeficiency Syndrome
  • Omenn Syndrome
  • ‘Complete’ DiGeorge Syndrome (focus on thymus gland)
  • MHC class I deficiency
  • MHC class II deficiency
  • APECED

Conduct research online in order to 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 and environmental susceptibilities.)
  3. What are the disease symptoms?
  4. What mechanisms are responsible for these disease symptoms? (Note: this is different from 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.)

Present answers in “worksheet” format by including the above numbered questions written out with the answers provided below each question. 

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