Endocrine Abstracts

Autoimmune Polyendocrine Syndrome type-1 (APS-1) is a rare monogenic disease (1:100 000 frequency), caused by mutations in the autoimmune regulator (AIRE) gene, which plays a crucial role in the thymus for negative selection of self-reacting T cells. With tissue damage caused by self-reactive immune cells from early stages of life and gradually presenting with symptoms in following years, APS-1 is clinically diagnosed by presence of minimum two components of the classical tria...

The 21-hydroxylase (21OH) gene, CYP21A2, encodes the 21OH steroidogenic enzyme which is the primary autoantigen in autoimmune Addison’s disease (AAD). It is located on chromosome 6p21, in a copy number repeat termed RCCX, adjacent to the 21OH pseudogene (CYP21A1P). CYP21A1P is highly homologous to CYP21A2 but contains an 8 bp deletion in exon 3 (707-714delGAGACTAC) which results in a frameshift. The predicted protein product is...