Immune dysregulation, lymphoproliferation and autoinflammatory disease — OSCE

Station brief (candidate)

• Acknowledge the parents' fear of cancer and validate it as reasonable, given their family history.
• Explain that chronic, painless lymphadenopathy with a big spleen and a falling platelet count, in a child who is otherwise well between episodes, points toward an immune-control disorder called autoimmune lymphoproliferative syndrome (ALPS) — not cancer — while honestly stating that cancer must be actively excluded.
• Outline the work-up that distinguishes the two: a blood film and, if needed, a lymph-node biopsy to exclude lymphoma, alongside an immunophenotype looking for double-negative T cells, and a phenotype-guided gene panel of the Fas pathway.
• Outline the management principle: steroid-sparing sirolimus rather than splenectomy, with clinical immunology referral.
• Agree a clear, specific safety-net for when to return immediately (new fever with bleeding or bruising, progressive gland enlargement, persistent fever, breathlessness). [6] [7]