OVERVIEW
This page is dedicated to organizing various examples of standardized exam questions whose answer is hyper IgM syndrome. While this may seem a odd practice, it is useful to see multiple examples of how hyper IgM syndrome will be characterized on standardized exams (namely the boards and the shelf exams). This page is not meant to be used as a tradition question bank (as all of the answers will be the same), however seeing the classic “test” characterization for a disease is quite valuable.
QUESTION EXAMPLES
Question # 1
A 15 month old boy is admitted to the hospital for the treatment of pneumonia. He has been suffering from a fever, cough, and difficulty breathing. His mother explains that he is at a day care with other children who have “a cold”, however she also remarks that she is concerned that he is “always sick”. She explains that he has had 4 episodes of bronchiolitis when he was an infant, and also had pneumococcal pneumonia a few months ago that also required hospitalization. Due to also having recurrent ear infections this patient does have tympanovstomy tubes placed. This patient currently does not take any medications, and all of his vaccinations are up to date. His weight is less then the 5th percentile, his temperature is 103.5°F, blood pressure is 90/55 mm Hg, pulse is 130/min, and reparations are 40/min. A physical exam reveals purulent discharge in both ears, and crackers are heard int he base of the right lung field. Lab results are shown below:
CBC:
- Hemoglobin: 12.5 g/dL
- Platelets: 300,000/µL
- Leukocytes: 8,000/µL
Immunoglobulins:
- IgG: 240 mg/dL (reference: 700-1500 mg/dL)**
- IgA: 20 mg/dL (reference: 60-400 mg/dL)**
- IgM: 500 mg/dL (reference: 60-300 mg/dL)**
Other:
- HIV-1 antibody: negative
What diagnosis could explain this presentation?
Explanation: history of recurrent infections + decreased IgG and IgA + increased IgM = hyper IgM syndrome
Page Updated: 11.25.2016