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Article

Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1.

The Journal of clinical endocrinology and metabolism - 1 Sept 2017

Orlova Elizaveta M, Sozaeva Leila S, Kareva Maria A, Oftedal Bergithe E, Wolff Anette S B, Breivik Lars, Zakharova Ekaterina Y, Ivanova Olga N, Kämpe Olle, Dedov Ivan I, Knappskog Per M, Peterkova Valentina A, Husebye Eystein S

Abstract excerpt

Context: Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare monogenic autoimmune disease caused by mutations in the autoimmune regulator (AIRE) gene and characterized by chronic mucocutaneous candidiasis, hypoparathyroidism, and primary adrenal insufficiency. Comprehensive characterizations of large patient cohorts are rare. Objective: To perform an extensive clinical, immunological, and genetic...

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Identifiers

PMID: 28911151
DOI: 10.1210/jc.2017-00139

Genes

AIRE

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