Ontology highlight
ABSTRACT:
SUBMITTER: Sajjadi-Jazi SM
PROVIDER: S-EPMC6698041 | biostudies-literature | 2019 Aug
REPOSITORIES: biostudies-literature
Sajjadi-Jazi Sayed Mahmoud SM Soltani Akbar A Enayati Samaneh S Kakavand Hamidi Armita A Amoli Mahsa M MM
BMC medical genetics 20190816 1
<h4>Background</h4>Mutations of the autoimmune regulator gene (AIRE), located on chromosome 21q22.3, are recognized as the cause of a rare monogenic organ-specific autoimmune disorder called autoimmune polyglandular syndrome type 1 (APS-1). Three major components of this syndrome include chronic mucocutaneous candidiasis (CMC), hypoparathyroidism, and adrenocortical failure.<h4>Case presentation</h4>We report a 19-year-old girl, who was born in an Iranian Muslim family with a clinical diagnosis ...[more]