Autoimmune polyendocrinopathy type 1

Autoimmune polyendocrinopathy type 1 (APS-1), also known as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a rare inherited autoimmune disorder caused by mutations in the AIRE (autoimmune regulator) gene. This gene plays a critical role in immune tolerance by helping the thymus eliminate self-reactive T cells. When AIRE is dysfunctional, the immune system attacks the body's own tissues, particularly endocrine glands and other organs. The classic triad of APS-1 includes chronic mucocutaneous candidiasis (persistent fungal infections of the skin, nails, and mucous membranes), hypoparathyroidism (underactive parathyroid glands leading to low calcium levels), and primary adrenal insufficiency (Addison disease). However, the disease is highly variable and can affect many other organ systems. Additional manifestations may include type 1 diabetes, primary gonadal failure, autoimmune thyroid disease, autoimmune hepatitis, pernicious anemia, alopecia, vitiligo, keratitis, and intestinal malabsorption. Symptoms typically begin in childhood, often with candidiasis appearing first, followed by hypoparathyroidism and then adrenal insufficiency, though the order and combination of features vary considerably among patients. Treatment is primarily supportive and involves hormone replacement therapy for the specific endocrine deficiencies (such as calcium and vitamin D supplementation for hypoparathyroidism, and glucocorticoid and mineralocorticoid replacement for adrenal insufficiency), antifungal medications for candidiasis, and immunosuppressive therapy for autoimmune complications such as hepatitis. Lifelong monitoring for new autoimmune manifestations is essential, as additional components of the disease may develop over time. Early diagnosis and coordinated multidisciplinary care are important for optimizing outcomes.

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