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

@article{Orlova2017ExpandingTP,
  title={Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1.},
  author={Elizaveta M Orlova and Leila S Sozaeva and Maria A Kareva and Bergithe Eikeland Oftedal and Anette S. B. Wolff and Lars Ertesv{\aa}g Breivik and Ekaterina Y Zakharova and Olga N Ivanova and Olle K{\"a}mpe and Ivan Ivanovich Dedov and Per Morten Knappskog and Valentina A. Peterkova and Eystein Sverre Husebye},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2017},
  volume={102 9},
  pages={3546-3556}
}
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 characterization of a large nationwide Russian APS-1 cohort. Subjects and Methods Clinical… CONTINUE READING