Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy

APECED is due to a monogenic mutation of AIRE (autoimmune regulator) which codes for a transcription factor. Its pathophysiological substrate is related to an anomaly of normal immunological tolerogenesis leading to the formation of autoantibodies directed against specific tissue antigens: surface receptors, intracellular enzymes, secreted proteins (hormones). APECED usually occurs in children before the age of 5, or in early adolescence.

Alternative names


Autoimmune polyendocrine syndrome, type I; APS1

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy

Autoimmune polyglandular syndrome, type I

Polyglandular autoimmune syndrome, type I


Hypoadrenocorticism with hypoparathyroidism and superficial moniliasis

Polyglandular deficiency syndrome, persian-jewish type

Autoimmune polyendocrinopathy syndrome, type I, autosomal dominant

Autoimmune regulator


  • Other well-defined immunodeficiency syndromes
    • Autoimmune disorders


Autosomal recessive


#240300 Autoimmune polyendocrinopathy syndrome, type I

*607358 Autoimmune regulator; AIRE

Cross references


1:25000 in Finnish population and 1:9000 in the Iranian jews.