Autoimmune polyendocrine syndrome (APS) type 1 is a rare autosomal recessive disorder characterized by autoimmune multiorgan involvement. The disease is caused by mutations in the autoimmune regulator gene (AIRE), resulting in defective AIRE protein, which is essential for self-tolerance. Clinical manifestations are widely variable. APS type 1, also known as APECED (autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy) is defined by the association of at least two of three major component of diseases: chronic mucocutaneous candidiasis, primary hypoparathyroidism, and autoimmune adrenal insufficiency. Treatment is based on supplementation of the various deficiencies, and patients require regular follow-up throughout life. This article describes two cases of patient with APS type 1in a same family.
