Monogenic autoimmune diseases: insights into self-tolerance.
Autoimmune diseases affect a significant segment of the population and are typically thought to be multifactorial in etiology. Autoimmune diseases due to single gene defects are rare, but offer an invaluable window into understanding how defects in the immune system can lead to autoimmunity. In this review, we will focus on autoimmune polyendocrinopathy syndrome type 1 and recent advances in our understanding of this disease. We will also discuss two other monogenic autoimmune diseases: immunodysregulation, polyendocrinopathy, and enteropathy, X-linked and Autoimmune lymphoproliferative syndrome. Importantly, the knowledge and principles gained from studying these diseases have been applicable to more common autoimmune diseases and have opened the door to better diagnostic and therapeutic modalities.
Su
Maureen A
MA
Diabetes Center and Department of Pediatrics, University of California, San Francisco, San Francisco, California 94143, USA.
Anderson
Mark S
MS
D000222:Adaptation, Physiological / Q000235:genetics*; D006801:Humans; D016884:Polyendocrinopathies, Autoimmune / Q000235:genetics*