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Physiology · Blood and immunity: central tolerance and AIRE
Sample itemA boy has chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure from a mutation in a transcription factor expressed in thymic medullary epithelial cells. What is the normal role of this factor?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
B. It expresses tissue-restricted self antigens so autoreactive T cells are deleted
The AIRE gene allows medullary thymic epithelial cells to express many tissue-specific self antigens. T cells that react strongly to them are deleted or diverted to regulatory fates, so loss of AIRE causes polyendocrine autoimmunity (APECED).
Option by option
A. It regulates complement activation on host cells
Complement regulation is carried out by factors such as DAF and factor H.
B. It expresses tissue-restricted self antigens so autoreactive T cells are deleted (correct)
Correct. AIRE displays peripheral self antigens in the thymus for negative selection.
C. It generates the diversity of the T-cell receptor
T-cell receptor diversity arises from RAG-mediated recombination.
D. It switches immunoglobulin classes in germinal centres
Class switching depends on AID and CD40 signalling, not AIRE.
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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