35 - Genetic Disorders of Interferons-, Interleukin-17, Interleukin-18, and Nuclear Factor-κB-Mediated Immunity

Abstract

In the last 25 years, inborn errors of immunity (IEIs) affecting the immunity mediated by interferon (IFN), Toll-like receptor (TLR), and interleukin (IL)-1 receptor (TIR) signaling, nuclear factor (NF)-κB pathway, TLR-3 pathway, IL-17, and IL-18 have been identified. Some of these genetic defects are associated with a broad range of infections, but others provide a molecular explanation for severe infectious diseases previously thought to be idiopathic. Other genetic defects are associated with severe and/or recurrent infections caused by a single family of microorganisms. Standard immunological explorations are generally normal in these patients, whether they are susceptible to one or several infectious agents. Despite the lack of a clear immunological abnormality, infections in these patients are typically severe, and often fatal. The discovery of many novel IEIs opens up exciting new perspectives, not only in increasing our understanding of immunity to pathogens but also benefiting patients.