An autoimmune disorder (autoimmune polyendocrinopathy syndrome) in which there is Addison's disease and/or hypoparathyroidism and/or chronic mucocutaneous candidiasis. Type I is caused by mutation in the autoimmune regulator gene that encodes a protein (545 aa) that is probably a transcription factor. In type 2 (Schmidt's syndrome), patients have Addison's disease with autoimmune thyroid disease and/or type 1 diabetes, but do not have hypoparathyroidism or candidiasis. In type 3, patients have autoimmune thyroid disease and other autoimmune disorders but do not have Addison's disease. In IPEX (X-linked immunodysregulation, polyendocrinopathy, and enteropathy) there is a mutation in the foxP3 gene.
Subjects: Medicine and Health.