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Dermatology · Fungal infections: chronic mucocutaneous candidiasis
Sample itemA child has persistent candidiasis of nails, skin and mouth, with hypoparathyroidism and Addison disease. Which gene is mutated?
Original practice item, not a recalled exam question. Nothing here is recorded.
The answer and the reasoning
A. AIRE
APECED, or autoimmune polyendocrinopathy type 1, results from AIRE mutations and gives chronic mucocutaneous candidiasis with autoimmune endocrine failure. Antibodies to IL-17 and IL-22 contribute to the Candida susceptibility.
Option by option
A. AIRE (correct)
Correct. AIRE mutation explains the combination.
B. STAT3 only
STAT3 mutation causes hyper-IgE syndrome, which lacks endocrinopathy.
C. FOXP3
FOXP3 mutation causes IPEX syndrome with enteropathy and diabetes.
D. CFTR
CFTR mutation causes cystic fibrosis.
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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