The genetics of autoimmune Addison disease: past, present and future
Sign Up to like & getrecommendations! Published in 2022 at "Nature Reviews Endocrinology"
DOI: 10.1038/s41574-022-00653-y
Abstract: Autoimmune Addison disease is an endocrinopathy that is fatal if not diagnosed and treated in a timely manner. Its rarity has hampered unbiased studies of the predisposing genetic factors. A 2021 genome-wide association study, explaining… read more here.
Keywords: addison disease; genetics autoimmune; genetics; disease ... See more keywords
Autoimmune Addison's Disease as Part of the Autoimmune Polyglandular Syndrome Type 1: Historical Overview and Current Evidence
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Immunology"
DOI: 10.3389/fimmu.2021.606860
Abstract: The autoimmune polyglandular syndrome type 1 (APS1) is caused by pathogenic variants of the autoimmune regulator (AIRE) gene, located in the chromosomal region 21q22.3. The related protein, AIRE, enhances thymic self-representation and immune self-tolerance by… read more here.
Keywords: syndrome type; autoimmune polyglandular; autoimmune addison; addison disease ... See more keywords