ReviewIMMUNODEFICIENCES

Human inborn errors of immunity: An expanding universe

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Science Immunology  10 Jul 2020:
Vol. 5, Issue 49, eabb1662
DOI: 10.1126/sciimmunol.abb1662

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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.

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