Endocrine Abstracts

The autoimmune regulator (AIRE) gene is crucial for establishing central immunological tolerance and preventing autoimmunity. Mutations in AIRE cause a rare autosomal-recessive disease, autoimmune polyendocrine syndrome type 1 (APS-1). The clinical picture is highly variable, however, most patients present severe chronic mucocutaneous candidiasis and organ-specific autoimmunity from early childhood and have high levels of autoantibodies against interferon alpha and omega. Rece...

Background: Autoimmune Addison disease (AAD) is a rare but highly heritable endocrinopathy. The BACH2 protein plays a crucial role in T lymphocyte maturation, and in particular in regulatory T cell formation, and allelic variation in its gene has been associated with autoimmune conditions such as type 1 diabetes, autoimmune thyroid disease and vitiligo. Its role in susceptibility to autoimmune Addison’s disease (AAD) has not been investigated.Aim: T...

Introduction: An increased frequency of autoimmune diseases and an elevated incidence of autoantibodies have been observed in Turner syndrome (TS), but indirect immunofluorescence (IIF) has not been able to demonstrate autoantibodies against the adrenal cortex. We asked if the more sensitive radioimmunosorbant assay employing recombinant human 21-hydroxylase was able to identify autoantibodies against 21-hydroxylase, (21OH-Ab) in TS patients; 21-hydroxylase is the major adrena...