Immunopathology: IPEX syndrome: 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: IPEX syndrome

Sample item

A 4-month-old boy has severe watery diarrhoea, eczema, and neonatal-onset type 1 diabetes. His maternal uncle died in infancy. Mutation of which gene is most likely?

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

The answer and the reasoning

A. FOXP3

IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) results from FOXP3 mutation. Regulatory T cells are lacking, so tolerance fails and autoimmune enteropathy, endocrinopathy and dermatitis follow.

Option by option

  • A. FOXP3 (correct)

    Correct. Loss of FOXP3 removes regulatory T cells and causes multi-organ autoimmunity.

  • B. STAT3

    STAT3 defects cause hyper-IgE syndrome, which is not X-linked.

  • C. CD40LG

    CD40LG mutation causes hyper-IgM syndrome, with recurrent infections.

  • D. ADA

    ADA deficiency causes SCID with lymphopenia, not autoimmunity.

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 A, FOXP3. IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) results from FOXP3 mutation.

Why is "STAT3" not the answer?

STAT3 defects cause hyper-IgE syndrome, which is not X-linked.

Why is "CD40LG" not the answer?

CD40LG mutation causes hyper-IgM syndrome, with recurrent infections.

Why is "ADA" not the answer?

ADA deficiency causes SCID with lymphopenia, not autoimmunity.

What concept does this question test?

It tests Immunopathology: IPEX syndrome in Pathology. Regulatory T cells are lacking, so tolerance fails and autoimmune enteropathy, endocrinopathy and dermatitis follow.

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: IPEX syndrome?

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.