Question

Stephanie, age 7, was brought to the hospital with fever, fatigue, bone pain, sore throat, and bruising apparent in many places in her body. On examination, there was an enlargement of the spleen and liver. She is diagnosed with an Innate Immune defect.

1. What lab tests would you ask to be done?

2. What are the possible results that you expect to see in these lab results (if needed provide numbers)?

3. How would Melody be treated according to your diagnosis?

4. Could this illness have been prevented?

Answer 1

Q1. Test to be done with examination are:

1. CBC- to check number of white blood cells, platelets, ESR to identify the cause

2. USG of liver and spleen for enlargement

3. CT scan of bone (any bone infection)

4. Immunoglobin test (IgE)

5. Cytokines level through ELISA

6. Toll like receptor test to evaluate pathogen associated molecular pattern to enables innate immunity responses.

7. Pathogen culture for infection

2. What are the possible results that you expect to see in these lab results (if needed provide numbers)?

1. Elevate level of WBC more than 11 thousand.

2. TLR test result shown deficiencies of receptor.

3. Elevated level of IgE immunoglobin level. (3.50-17.49 kAU/L)

4. Imaging studies shows the enlarged spleen and liver.

5. Increase production of cytokine by WBC.

6. CT scan show active bone inflammation in some cases.

3. How would client be treated according to your diagnosis?

Ans. According to clinical presentation the client should be treated with antibiotic treatment and if require immunoglobin can be administered. For TLR based defect, TLR antagonist drug can be used to treat innate immunity defect.

4. Could this illness have been prevented?

No, this illness is not preventable as client have defect in the receptor can’t have a normal life he/she should be on prophylactic antibiotic or anti-inflammatory drugs. These defect mostly rare and genetical. There is a variability in severity of disease and all complication have not been identified yet. Studies are going on these defects for more preventable plan for the illness.

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