Key Clinical and Laboratory Features

  • Common clinical features: Triad of hypoparathyroidism, Addison disease (adrenal insufficiency) and candidiasis; two of these three basic features need to be present to make the clinical diagnosis.
  • Other clinical features: Uveitis, type 1 diabetes, ovarian failure, hypothyroidism, pernicious anemia, autoimmune hepatitis, diarrhea/malabsorption, alopecia, vitiligo, enamel hypoplasia, tympanic membrane calcification
  • Physical exam: Chronic mucocutaneous candidiasis is common but not universal.
  • Common laboratory features: Hypocalcemia, low parathyroid hormone (PTH) levels, decreased morning (a.m.) cortisol levels, abnormal ACTH stimulation test results, autoantibodies to type I Interferons (α and ω), autoantibodies to IL-17 and IL-22

Testing Approach

  Test Comments
Gene AIRE Gene Sequencing   The gold standard for confirming a diagnosis of APECED (APS I) in a patient with suggestive clinical symptoms.
Protein and Function N/A There are currently no available clinical tests to evaluate AIRE protein expression or function.
  • Serum calcium levels and parathyroid hormone levels
  • Morning (a.m.) cortisol level
  • Levels of autoantibodies to type I interferons (α and ω), IL-17, and IL-22 can provide suggestive evidence.