Genetic and Epigenetic Determinants in Autoinflammatory Diseases

Overview

Journal Front Immunol

Specialty Allergy & Immunology

Date 2017 Apr 7

PMID 28382039

Citations 27

Authors

Damiana Alvarez-Errico

Roser Vento-Tormo

Esteban Ballestar

Affiliations

Soon will be listed here.

Abstract

The concept of autoinflammation has evolved over the past 20 years, beginning with the discovery that mutations in the Mediterranean Fever () gene were causative of Familial Mediterranean Fever. Currently, autoinflammatory diseases comprise a wide range of disorders with the common features of recurrent fever attacks, prevalence of hyperreactive innate immune cells, and signs of inflammation that can be systemic or organ specific in the absence of pathogenic infection of autoimmunity. Innate immune cells from the myeloid compartment are the main effectors of uncontrolled inflammation that is caused in great extent by the overproduction of inflammatory cytokines such as IL-1β and IL-18. Defects in several signaling pathways that control innate immune defense, particularly the hyperreactivity of one or more inflammasomes, are at the core of pathologic autoinflammatory phenotypes. Although many of the autoinflammatory syndromes are known to be monogenic, some of them are genetically complex and are impacted by environmental factors. Recently, epigenetic dysregulation has surfaced as an additional contributor to pathogenesis. In the present review, we discuss data that are currently available to describe the contribution of epigenetic mechanisms in autoinflammatory diseases.

Citing Articles

Familial Mediterranean fever gene variations could trigger -associated early-onset dystonia and diabetes mellitus: clinical identification of a family with and genetic variation association.

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Systemic autoinflammatory disorders.

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Systemic Autoinflammatory Diseases: A Growing Family of Disorders of Overlapping Immune Dysfunction.

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DNA hypomethylation leads to cGAS-induced autoinflammation in the epidermis.

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