Human Inborn Errors of Immunity: An Expanding Universe

Overview

Journal Sci Immunol

Specialty Allergy & Immunology

Date 2020 Jul 12

PMID 32651211

Citations 109

Authors

Luigi D Notarangelo

Rosa Bacchetta

Jean-Laurent Casanova

Helen C Su

Affiliations

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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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Inborn errors of immunity with atopic phenotypes in the allergy and immunology clinic: a practical review.

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Editorial: Inborn Errors of Immunity (IEI) breaking immune homeostasis and tolerance: a key role for T regulatory cells.

De Rosa V, Sogkas G, Bacchetta R Front Immunol. 2025; 15:1532079.

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