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autoimmune polyglandular syndrome type 1

MIM.240300 21q22.3

Friday 16 November 2007

Autoimmune polyglandular syndrome type 1 (APS1) ou APECED is characterized by the presence of 2 of 3 major clinical symptoms: Addison disease, and/or hypoparathyroidism, and/or chronic mucocutaneous candidiasis. APS1 is caused by mutation in the autoimmune regulator gene (AIRE) (MIM.607358).

Etiology

- germline mutations of the AIRE gene (MIM.607358)

See also

- APECED

References

- Oliva-Hemker M, Berkenblit GV, Anhalt GJ, Yardley JH.Pernicious anemia and widespread absence of gastrointestinal endocrine cells in a patient with autoimmune polyglandular syndrome type I and malabsorption.J Clin Endocrinol Metab. 2006 Aug;91(8):2833-8. PMID: #16684833#