Introduction: Autoimmune polyendocrine syndrome type 1 (APS-1) : a rare monogenic disorder as a model to improve understanding of tolerance and autoimmunity

• Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare hereditary disorder with autoimmune manifestations affecting both endocrine and nonendocrine tissues, as described in detail in this issue of the Journal. The disease, also named APECED (autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy), has recently generated a lot of scientific interests as it has been instrumental in unravelling mechanisms critically involved in the induction of tolerance. APS-1 is caused by mutations in the autoimmune regulator (AIRE) gene, a putative transcription factor primarily expressed in medullary thymic epithelial cells, where negative selection is thought to occur, but also to some extent in rare peripheral lymphocytes. This rare disease shares many features with more common organ-specific autoimmune disorders with complex patterns of inheritance, such as type 1 diabetes and Addison's disease. As an example, adrenal insufficiency in both APS-1 and isolated Addison's disease have in common the same autoantigen, 21-hydroxylase.

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