Human inborn errors of immunity: An expanding universe
This Review summarizes recent advances in the molecular, cellular, and clinical characterization of human inborn errors of immunity and challenges a number of immunological notions initially established in inbred mice.
Abstract
Molecular, cellular, and clinical studies of human inborn errors of immunity have revolutionized our understanding of their pathogenesis, considerably broadened their spectrum of immunological and clinical phenotypes, and enabled successful targeted therapeutic interventions. These studies have also been of great scientific merit, challenging a number of immunological notions initially established in inbred mice while revealing previously unrecognized mechanisms of host defense by leukocytes and other cells and of both innate and adaptive tolerance to self.