Genetic and metabolic disorders: hyper IgE syndrome: practice question

A Pediatrics 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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Pediatrics · Genetic and metabolic disorders: hyper IgE syndrome

Sample item

A 6-year-old boy has recurrent staphylococcal skin abscesses that are notably non-inflamed, pneumonias that leave pneumatoceles, chronic eczema, coarse facies, retained primary teeth and fractures after minor trauma. Serum IgE is very high with eosinophilia. Which gene is most often mutated?

ASTAT3BBTKCWASDCD40 ligand

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

The answer and the reasoning

A. STAT3

Autosomal dominant hyper IgE syndrome (Job syndrome) is caused by dominant negative STAT3 mutations. It combines cold staphylococcal abscesses, pneumatoceles, eczema, characteristic facies, retained teeth and bone fragility. IgE is very high and eosinophils are raised.

Option by option

A. STAT3 (correct)
Correct. Dominant negative STAT3 mutations cause the classic hyper IgE phenotype with skeletal and dental features.
B. BTK
BTK mutations cause X-linked agammaglobulinaemia, with absent B cells and low IgE.
C. WAS
WAS mutations cause Wiskott-Aldrich syndrome, with eczema, small platelets and thrombocytopenia, not pneumatoceles or retained teeth.
D. CD40 ligand
CD40 ligand mutations cause X-linked hyper IgM syndrome, with low IgE and normal or high IgM.

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.

Questions about this Pediatrics question

What is the answer to this Pediatrics question?

The best answer is A, STAT3. Autosomal dominant hyper IgE syndrome (Job syndrome) is caused by dominant negative STAT3 mutations.

Why is "BTK" not the answer?

BTK mutations cause X-linked agammaglobulinaemia, with absent B cells and low IgE.

Why is "WAS" not the answer?

WAS mutations cause Wiskott-Aldrich syndrome, with eczema, small platelets and thrombocytopenia, not pneumatoceles or retained teeth.

Why is "CD40 ligand" not the answer?

CD40 ligand mutations cause X-linked hyper IgM syndrome, with low IgE and normal or high IgM.

What concept does this question test?

It tests Genetic and metabolic disorders: hyper IgE syndrome in Pediatrics. It combines cold staphylococcal abscesses, pneumatoceles, eczema, characteristic facies, retained teeth and bone fragility. IgE is very high and eosinophils are raised.

How hard is this question?

We tag it as an application question: it asks you to use a fact on a patient or a finding. 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 Genetic and metabolic disorders: hyper IgE syndrome?

Memorise milestones and the vaccine schedule as tables and revise them often. Then use the flashcards and the other Pediatrics 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.