APECED (Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy) is a genetic disorder with a wide range of clinical symptoms, often marked by at least two of the following three conditions: hypoparathyroidism (diminished function of the parathyroid glands which regulate calcium), candidiasis (yeast infection), and adrenal insufficiency (reduced adrenal gland function). It was the first systemic autoimmune disease linked to a single gene defect. "Autoimmune" refers to the immune system, which typically protects the body from foreign invaders, mistakenly attacking the body's tissues, including the skin, joints, liver, and various organs. Common systemic autoimmune diseases are rheumatoid arthritis, systemic lupus erythematosus, diabetes mellitus, Sjogren's syndrome, scleroderma, Goodpasture's syndrome, vitiligo, Addison's disease, thyroiditis, and others.In 1997, a new gene located at chromosome region 21q22.3 was discovered and named AIRE (autoimmune regulator). Mutations in the AIRE gene cause APECED. This condition is inherited in a recessive manner, meaning a child must inherit two mutated AIRE genes, one from each parent, to be affected. Although APECED is rare, it occurs more frequently in the Finnish, Iranian Jewish, and Sardinian populations.Children with APECED experience issues in multiple glands (polyglandular), including hypoparathyroidism, hypogonadism (failure of the sex glands), adrenal insufficiency, type 1 diabetes (insulin-dependent) due to inadequate insulin production by the pancreas, and latent hypothyroidism (underactivity of the thyroid gland). Additional features include complete baldness (alopecia totalis), inflammation of the cornea and eye whites (keratoconjunctivitis), underdeveloped tooth enamel (hypoplasia), early-onset yeast infections, juvenile-onset pernicious anemia, gastrointestinal issues (malabsorption, diarrhea), and chronic active hepatitis.Laboratory findings indicate an immune disorder with low levels of gammaglobulin antibodies in the blood (hypogammaglobulinemia) and a low T4/T8 white blood cell ratio (similar to AIDS). There is clear evidence of autoimmunity, with antibodies targeting the adrenal and thyroid glands, as well as cell nuclei (antiadrenal, antithyroid, and antinuclear antibodies).The management of APECED focuses on addressing specific symptoms: hormone replacement for deficiencies, insulin for diabetes, and treatment for yeast infections. However, a cure for APECED remains elusive. The prognosis hinges on effectively managing hormone deficiencies and controlling infections.APECED is known by several other names, including Autoimmune Polyglandular Syndrome (APS), Polyglandular Autoimmune Syndrome (PGA), Autoimmune Polyendocrinopathy Syndrome, Hypoadrenocorticism with Hypoparathyroidism and Superficial Moniliasis, and Polyglandular Deficiency Syndrome.
