MRCPCH Prep – Recall, Mock test, Study Notes, Question Banks & Exam Tips

A child presents with recurrent infections, severe eczema not responding to treatment, nail candidiasis, multiple fractures, and coarse facies with a broad nose. The father has similar facial features.

What is the most likely diagnosis? (Select one answer only)

A. Hyper IgE syndrome

B. Chronic granulomatous disease

C. Hypogammaglobinemia

D. Severe combined immunodeficiency (SCID)

E. Wiskott–Aldrich syndrome

Explanation

Correct Answer: A. Hyper IgE syndrome (Job’s syndrome)

• A. Hyper IgE syndrome (Job’s syndrome) → ✅ Fits perfectly: eczema, recurrent infections, candidiasis, fractures, coarse facies, autosomal dominant inheritance.
• B. Chronic granulomatous disease → Recurrent infections, but no eczema, fractures, or coarse facies.
• C. Hypogammaglobinemia → Recurrent bacterial infections, but no eczema, candidiasis, or skeletal abnormalities.
• D. SCID → Severe infections early in infancy, failure to thrive, but not coarse facies or fractures.
• E. Wiskott–Aldrich syndrome → Triad of eczema, recurrent infections, and thrombocytopenia (bleeding tendency), but not fractures or coarse facies.