Article
Autoimmune polyglandular syndrome type 1 in Russian patients: clinical variants and autoimmune regulator mutations.
Hormone research in paediatrics - 1 Jan 2010
Orlova Elizaveta M, Bukina Anna M, Kuznetsova Elvira S, Kareva Maria A, Zakharova Ekaterina U, Peterkova Valentina A, Dedov Ivan I
Abstract excerpt
BACKGROUND: Autoimmune polyglandular syndrome type 1 (APS-1) (OMIM 240300) is a rare autosomal recessive disorder associated with three major manifestations: chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenal insufficiency. There are, however, multiple minor components of APS-1 that induce significant phenotype variability. Subsequently, the diagnosis of APS-1 during early stages is often...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.