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Pathology · Apoptosis: extrinsic pathway
Sample itemA 6-year-old boy has persistent lymphadenopathy, splenomegaly and autoimmune haemolytic anaemia. Blood shows increased TCR alpha-beta T cells that express neither CD4 nor CD8 (double-negative T cells). Defective apoptosis through which receptor is the likely cause?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
D. Fas (CD95) death receptor
Autoimmune lymphoproliferative syndrome results from mutations in FAS (or FAS ligand, or caspase 10), so activated lymphocytes escape death through the extrinsic pathway. Lymphocytes accumulate, producing nodes, splenomegaly and autoimmune cytopenias. Fas engagement normally recruits FADD and activates caspase 8.
Option by option
A. Perforin pore-forming protein
Perforin deficiency causes familial haemophagocytic lymphohistiocytosis, with fever and cytopenias.
B. BCL-2 overexpression at the mitochondrial membrane
BCL-2 overexpression blocks the intrinsic pathway and characterises follicular lymphoma, not this syndrome.
C. Autoimmune regulator (AIRE) transcription factor
AIRE deficiency causes loss of central tolerance in APECED, with endocrine failure and candidiasis.
D. Fas (CD95) death receptor (correct)
Correct. Failure of Fas-mediated apoptosis lets autoreactive lymphocytes persist.
Source note: Original NextPrep sample item — pending expert review. This item is original practice material awaiting independent expert review, so confirm important facts in a standard textbook.
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