Chapter 2 - Congenital Immunodeficiency Diseases: Crossroad of Infection, Autoimmunity, and Hyperinflammation

Abstract

Primary immunodeficiency disorders (PIDs) are genetically predetermined conditions of innate or adaptive immune system dysregulation. Susceptibility toward infection has been a long-standing, often diagnosis-requiring, feature. More recently, autoimmunity as a central pathology in PIDs has been described. Our growing ability to link unique genetic defects with downstream mechanisms that drive hyperinflammation and loss of self-tolerance is extremely powerful. Ultimately, successful management of the PID patient requires not only prevention of infection, but early detection and treatment of autoimmune complications through the use of mechanism-based therapies, which will directly address the immune dysregulation at play.