develop a case study on a fictitious patient with severe combined immune deficiency (SCID), due to a mutation of the γc chain cytokine receptor gene covering their diagnosis and treatment.

1. A description of the fictitious patient, including age (select an age from the typical age range SCID is diagnosed in) and gender.
2. Describe the clinical symptoms or circumstances which led to the patient being referred for testing for SCID (was it a routine blood test or were they symptomatic?).
3. Describe the tests performed to diagnose SCID.
4. Provide the patient’s tests results, including details of the causative mutation (remember any cell counts need to be consistent with a mutation of the γ_c chain cytokine receptor gene). Specify what abnormal findings are typically found in this type of SCID and provide appropriate results for the patient. You will also need to provide the normal reference ranges for the tests carried out. The easiest way is to concisely summarise the information from points 3 and 4 in a table.
5. Provide information on the underlying biology of the disorder with reference to how this links to the test results.
6. Provide details of the treatments given to your patient, include name, dosage, frequency of dose, etc for any drugs and details of how successful treatment would affect the results of the previously reported tests. Again, this information can easily be summarised in the same table mentioned in point 4.
7. Describe future developments in treatment(s) for the patient’s condition.

Assessment guidelines

1. Your written report should be a maximum of 2,000 words. If your work exceeds the stated limit by more than 10%, your mark will be reduced by 10%. The word count excludes the bibliographies, and appendices.