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SCID Treatment — RACP Paediatrics MCQ

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HardInfectious DiseaseSCID TreatmentRACP Paediatrics

A 4-year-old with severe combined immunodeficiency (SCID) presents with opportunistic infections from birth. He has absent T cells and very low B cells on lymphocyte subsets. What is the definitive treatment?

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Correct answer: D — Haematopoietic stem cell transplantation

HSCT is the definitive treatment for SCID and should be performed as early as possible (ideally before 3.5 months). Gene therapy is available for some subtypes (e.g. ADA-SCID, X-linked SCID). Without definitive treatment, SCID is fatal in the first 1-2 years from overwhelming infections. Newborn screening for SCID (TREC assay) is being implemented in Australia.

Reference: RACP – 2024 – Paediatric Curriculum: Immunology