Diseases of Immune Dysregulation

Inborn errors of immune regulation are a heterogeneous group of genetic disorders with variable clinical manifestations, including lymphoproliferation, autoimmunity, and increased susceptibility to infections. They are caused by defects in genes involved in controlling when and how the immune system must turn on, which and how much cytokines release, which antigens should be eliminated and which neglected, and why and when the immune response has to turn off. A defective regulation of one or more of these mechanisms leads to the recognition of self-antigen or to an excessive response to foreign antigens, and finally to and/or hyperinflammation that damage cells and organs. The treatment of these disorders is often challenging, as it often requires immunosuppression in the presence of increased risk of infections.