Monogenic Autoinflammatory Disorders: Conceptual Overview, Phenotype, and Clinical Approach

Overview

Journal J Allergy Clin Immunol

Specialty Allergy & Immunology

Date 2020 Nov 8

PMID 33160483

Citations 56

Authors

Peter A Nigrovic

Pui Y Lee

Hal M Hoffman

Affiliations

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Abstract

Autoinflammatory diseases are conditions in which pathogenic inflammation arises primarily through antigen-independent hyperactivation of immune pathways. First recognized just over 2 decades ago, the autoinflammatory disease spectrum has expanded rapidly to include more than 40 distinct monogenic conditions. Related mechanisms contribute to common conditions such as gout and cardiovascular disease. Here, we review the basic concepts underlying the "autoinflammatory revolution" in the understanding of immune-mediated disease and introduce major categories of monogenic autoinflammatory disorders recognized to date, including inflammasomopathies and other IL-1-related conditions, interferonopathies, and disorders of nuclear factor kappa B and/or aberrant TNF activity. We highlight phenotypic presentation as a reflection of pathogenesis and outline a practical approach to the evaluation of patients with suspected autoinflammation.

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