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DiGeorge T-cell deficiency — MRCPCH TAS MCQ

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HardImmunologyDiGeorge T-cell deficiencyMRCPCH TAS

A neonate with interrupted aortic arch has seizures from hypocalcaemia and repeated viral infections. Chest radiograph shows absent thymic shadow. Which immune abnormality is most likely?

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Correct answer: A — Reduced T-cell maturation

DiGeorge syndrome involves thymic hypoplasia or aplasia, reducing T-cell maturation, alongside hypocalcaemia and conotruncal cardiac disease. Terminal complement deficiency predisposes to Neisseria infection rather than broad viral susceptibility with absent thymus. The pearl is that pharyngeal pouch development links the thymus and parathyroids.

Reference: Nelson Textbook of Pediatrics; RCPCH Theory examination syllabi; The Science of Paediatrics MRCPCH Mastercourse