From the Guidelines
Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) syndrome, also known as autoimmune polyendocrinopathy syndrome type 1 (APS-1), is the autoimmune disease that causes mucocutaneous candidiasis and, contrary to the question, hypoparathyroidism, not hyperparathyroidism.
Key Characteristics of APECED
- Caused by mutations in the autoimmune regulator gene (AIRE)
- Characterized by:
- Chronic mucocutaneous candidiasis
- Ectodermal dystrophy
- Autoimmune destruction of several endocrine organs, leading to:
- Hypoparathyroidism
- Adrenocortical failure
- Gonadal failure in females as noted in the study published in the Journal of Hepatology 1.
From the Research
Autoimmune Diseases Causing Mucocutaneous Candidiasis and Hyperparathyroidism
- There are no research papers that directly link autoimmune diseases with both mucocutaneous candidiasis and hyperparathyroidism. However, several studies discuss autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), a rare primary immunodeficiency disorder that typically presents with chronic mucocutaneous candidiasis and autoimmunity targeting endocrine tissues, including hypoparathyroidism, not hyperparathyroidism 2, 3, 4, 5.
- APECED is characterized by the development of chronic mucocutaneous candidiasis, hypoparathyroidism, and Addison's disease, among other autoimmune conditions 3, 5.
- The studies suggest that APECED is caused by mutations in the autoimmune regulator gene, which leads to impaired central immune tolerance and the development of autoimmune manifestations 2, 4, 5, 6.
- While hyperparathyroidism is not typically associated with APECED, hypoparathyroidism is a common feature of the disorder, suggesting that the autoimmune response in APECED may target the parathyroid glands, leading to hypoparathyroidism rather than hyperparathyroidism 2, 3, 4, 5.