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X-linked Agammaglobulinaemia — RACP Paediatrics MCQ

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HardInfectious DiseaseX-linked AgammaglobulinaemiaRACP Paediatrics

A 3-year-old boy has recurrent pneumonia in different lobes. Very low IgG, IgA, IgM. Absent B cells on flow cytometry. Diagnosis?

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Correct answer: C — X-linked agammaglobulinaemia

Absent B cells with panhypogammaglobulinaemia in a male = X-linked agammaglobulinaemia (Bruton, BTK mutation).

Reference: RACP – 2024 – Paediatric Curriculum: Immunology