Endocrine Abstracts

Since individuals with autoimmune Addison’s disease (AD) present considerable co-occurrence of other autoimmune conditions, clustering of autoimmunity was also predicted among their relatives. We aimed to evaluate the burden of autoimmunity in families of patients with AD by means of a survey, serum autoantibody testing and correlating these data with the established genetic risk factors (PTPN22 rs2476601, CTLA4 rs231775, and BACH2 rs3757247). 7...

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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...