Bergithe Eikeland Oftedal

Abstract The Autoimmune Regulator, AIRE, acts as a transcriptional regulator in the thymus, facilitating ectopic expression of thousands of genes important for the process of negative T-cell selection and immunological tolerance to self. Pathogenic variants in the gene encoding AIRE are causing Autoimmune polyendocrine syndrome type 1 (APS-1), defined by multiorgan autoimmunity and chronic mucocutaneous candidiasis.

Abstract Autoimmune polyendocrine syndrome type 1 (APS-1) is caused by mutations in the autoimmune regulator (AIRE) gene. Most patients present with severe chronic mucocutaneous candidiasis and organ-specific autoimmunity from early childhood, but the clinical picture is highly variable. AIRE is crucial for negative selection of T cells, and scrutiny of different patient mutations has previously highlighted many of its molecular mechanisms.

Balasubramanian Krishnamurthy1,2*, Matthew Lacorcia1, Thomas W. H. Kay1,2, Helen E. Thomas1,2 and Stuart I. Mannering1,2 1Immunology and Diabetes Unit, St Vincent’s Institute, Fitzroy, VIC, Australia 2Department of Medicine, St Vincent’s Hospital, University of Melbourne, Fitzroy, VIC, Australia Type 1 diabetes (T1D) is a T-cell mediated autoimmune disease.