Ontology highlight
ABSTRACT:
SUBMITTER: Sanford E
PROVIDER: S-EPMC5983174 | biostudies-literature | 2018 Jun
REPOSITORIES: biostudies-literature
Sanford Erica E Watkins Kelly K Nahas Shareef S Gottschalk Michael M Coufal Nicole G NG Farnaes Lauge L Dimmock David D Kingsmore Stephen F SF
Cold Spring Harbor molecular case studies 20180601 3
Autoimmune polyendocrine syndrome type 1 (APS-1; OMIM #240300), also referred to as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a rare monogenic autoimmune disorder caused by mutations in the autoimmune regulator (<i>AIRE)</i> gene. APS-1 is classically characterized by a triad of chronic mucocutaneous candidiasis, autoimmune hypoparathyroidism, and autoimmune adrenocortical insufficiency. We report a 5-yr-old female who presented with symptoms of tetany due to hy ...[more]