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OVERVIEW
This page is dedicated to organizing various examples of standardized exam questions whose answer is Bruton agammaglobulinemia (XLA). While this may seem a odd practice, it is useful to see multiple examples of how XLA will be characterized on standardized exams (namely the boards and the shelf exams). This page is not meant to be used as a traditional question bank (as all of the answers will be the same), however seeing the classic “test” characterization for a disease is quite valuable.
KEY CHARACTERISTICS OF THIS CONDITION (ON EXAMS)
When it comes to standardized exams, each condition has its own “code” marked by key buzzwords, lab findings, clues, etc. If you are well versed in this code you will be able to more quickly identify the condition that is being discussed, and get the right answer on the exam you are taking. Below is the “code” for XLA.
- Re-current sinopulmonary/GI infections
- Family history of males dying young of infection (this is X-linked)
- No lymphoid tissue: can have variable presentation (such as absent lymph nodes)
- Absent B-cells
- Normal concentration of T-cells
- Low serum immunoglobulins (of all types)
QUESTION EXAMPLES
Question # 1
Explanation # 1
TESTABLE FACTS ABOUT THIS CONDITION (BEYOND ITS IDENTIFICATION)
Many questions on standardized exams go beyond simply recognizing the underlying condition. Often there are specific testable facts regarding some aspect of the disease’s pathophysiology/management/clincial implications that are commonly asked. Some of these are listed below:
- What is the cause: a defect in the BTK gene (Bruton tyrosine kinase) that is responsible for B-cell maturation.
- Consequence of defect: When this gene is inactive B-cells do not mature, and then Ig antibodies of all types are not made.
- How are lymph nodes altered: germinal centers and lymphoid follicles do not form due to the absence of B cells.
- How to manage: intravenous immunoglobulin infusion (patients need this every so often)
Page Updated: 04.02.2017