Immunopathology · NEET PG Preparation Pathology
A 4-year-old boy suffers from recurrent sinopulmonary bacterial infections since 6 months of age. Laboratory workup reveals profound hypogammaglobuli…
Practice question from Immunopathology (NEET PG Preparation Pathology), with the correct answer and a step-by-step solution.
medium · MCQ · Q-844462
A 4-year-old boy suffers from recurrent sinopulmonary bacterial infections since 6 months of age. Laboratory workup reveals profound hypogammaglobulinemia, markedly reduced B cells in peripheral blood, but normal T-cell numbers and function. Tonsils are significantly hypoplastic. Genetic analysis is likely to reveal a mutation in which of the following genes?
- A.BTK (Bruton tyrosine kinase)Correct answer
- B.AICDA (Activation-induced cytidine deaminase)
- C.CD40LG
- D.JAK3
Solution
X-linked agammaglobulinemia (Bruton agammaglobulinemia) is caused by mutations in the BTK gene, leading to a block in B-cell maturation from pre-B cells to immature B cells. This results in absent peripheral B cells and virtual absence of all immunoglobulin classes.
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