A 5-year-old boy presents with recurrent mucosal candidiasis and hypoparathyroidism. Genetic testing reveals a mutation in the AIRE gene. The most likely associated finding is:

• A Chronic granulomatous disease
• B Hyper-IgE syndrome (Job syndrome)
• C Autoimmune polyendocrine syndrome type 1 (APS-1) ✓
• D Leukocyte adhesion deficiency

Explanation

AIRE gene mutations cause autoimmune polyendocrine syndrome type 1 (APS-1/APECED), characterized by mucocutaneous candidiasis, hypoparathyroidism, and adrenal insufficiency. AIRE controls central tolerance by promoting expression of self-antigens in the thymus. The other options are distinct immunodeficiencies with different genetic bases and clinical features.

Reference: Robbins and Cotran Pathologic Basis of Disease, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.