Monogenic causes of autoimmune diabetes

This page has now been adopted by Sarah Flanagan & Matthew Johnson and is under construction.

Mutations in three different genes have been reported to cause neonatal diabetes with additional multi-organ autoimmune disease. Additional features commonly include protein losing enteropathy (manifesting with severe intractable diarrhoea), cytopenias (lowered blood cell counts) and autoimmune hypothyroidism. These monogenic disorders of autoimmunity give important insights into the mechanisms of immune tolerance within the body and, whilst they are rare, their study has implications for more common polygenic autoimmune diseases such as type 1 diabetes.