Autoimmune Polyendocrinopathy, Candidiasis, Ectodermal Dystrophy (APECED)
- Inheritance: Autosomal recessive
- Gene: AIRE
- Protein: AIRE
- Test: AIRE Gene Sequencing
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
|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.|