What Happens When AIRE Protein is Absent or Mutated?
Mutations in the AIRE gene can lead to a rare autoimmune condition known as Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED), also known as Autoimmune Polyendocrine Syndrome type 1 (APS-1). This condition is characterized by immune system attacks on multiple endocrine organs, leading to a variety of symptoms including chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenal insufficiency.
