Immunopathology: AIRE and central tolerance: practice question

A Pathology question in the style of the NEET PG paper. Answer it first, then read why the right option is right and why each of the others is wrong.

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Pathology · Immunopathology: AIRE and central tolerance

Sample item

A 10-year-old girl has chronic mucocutaneous candidiasis, hypoparathyroidism and then Addison disease. The autosomal recessive gene responsible normally drives thymic expression of peripheral tissue antigens. What is this gene?

Original practice item, not a recalled exam question. Nothing here is recorded.

The answer and the reasoning

C. AIRE

AIRE (autoimmune regulator) allows medullary thymic epithelial cells to express tissue-specific antigens so that autoreactive T cells are deleted. Its loss causes autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED, or APS-1) with multiple endocrine autoimmunity.

Option by option

  • A. FAS

    FAS mutation causes autoimmune lymphoproliferative syndrome.

  • B. FOXP3

    FOXP3 mutation causes IPEX through absent regulatory T cells.

  • C. AIRE (correct)

    Correct. AIRE loss lets autoreactive T cells escape thymic negative selection.

  • D. CTLA4

    CTLA4 haploinsufficiency causes a lymphoproliferative autoimmune syndrome.

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.

More Pathology questions

Questions about this Pathology question

What is the answer to this Pathology question?

The best answer is C, AIRE. AIRE (autoimmune regulator) allows medullary thymic epithelial cells to express tissue-specific antigens so that autoreactive T cells are deleted.

Why is "FAS" not the answer?

FAS mutation causes autoimmune lymphoproliferative syndrome.

Why is "FOXP3" not the answer?

FOXP3 mutation causes IPEX through absent regulatory T cells.

Why is "CTLA4" not the answer?

CTLA4 haploinsufficiency causes a lymphoproliferative autoimmune syndrome.

What concept does this question test?

It tests Immunopathology: AIRE and central tolerance in Pathology. Its loss causes autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED, or APS-1) with multiple endocrine autoimmunity.

How hard is this question?

We tag it as a multi-step question: it asks you to combine more than one idea. The tag is our own editorial judgement, not an official difficulty rating, so read the reason for every option, not only the answer.

How should I study Immunopathology: AIRE and central tolerance?

Learn each disease as a bundle: cause, key histology, markers, and the clinical hallmark. Then use the flashcards and the other Pathology questions on this site to test what stuck.

Is this a real NEET PG question?

No. It is an original practice item (editorial status: sample, version 1). NextPrep does not publish recalled or leaked questions, and independent faculty review of this item has not been completed yet, so confirm important facts in a standard textbook.