An Update on Autoinflammatory Diseases: Inflammasomopathies

An Update on Autoinflammatory Diseases: Inflammasomopathies Purpose of Review Autoinflammatory diseases are driven by abnormal innate immune activation. In the case of inflammasomopathies, these are all attributable to activation of an inflammasome complex, nucleated by an innate immune sensor such as NLRP3. This review will focus on recent advances that have helped to elucidate the role of three other sensors (NLRP1, NLRC4 and pyrin) which can also cause inflammasomopathies. Recent Findings Mutations in pyrin (S242R or E244K) destroy an inhibitory 14-3-3 binding site and result in the newly characterised disease pyrin-associated autoinflammation with neutrophilic dermatosis (PAAND). Moreover, a separate autoinflammatory disease driven by mevalonate kinase deficiency leads to defective RhoGTPase prenylation and subsequent loss of pyrin S242R phosphorylation, suggesting a shared mechanism of disease. Other inflammasomes such as NLRP1 and NLRC4 have had novel mutations described recently, which inform about the specific domains required for activation and autoinhibition. Summary This review covers recent advances in the study of inflammasomopathies, focussing on gene discoveries that elucidate new pathogenic mechanisms. . . . . Keywords Autoinflammatory disease Inflammasomopathy Inflammasome IL-1b IL-18 Introduction phenotypes. This is exemplified by the effectiveness of cyto- kine antagonism observed in autoinflammatory disorders, such Monogenic autoinflammatory diseases are a class of rare dis- http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Current Rheumatology Reports Springer Journals

An Update on Autoinflammatory Diseases: Inflammasomopathies

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Publisher
Springer Journals
Copyright
Copyright © 2018 by Springer Science+Business Media, LLC, part of Springer Nature
Subject
Medicine & Public Health; Rheumatology
ISSN
1523-3774
eISSN
1534-6307
D.O.I.
10.1007/s11926-018-0750-4
Publisher site
See Article on Publisher Site

Abstract

Purpose of Review Autoinflammatory diseases are driven by abnormal innate immune activation. In the case of inflammasomopathies, these are all attributable to activation of an inflammasome complex, nucleated by an innate immune sensor such as NLRP3. This review will focus on recent advances that have helped to elucidate the role of three other sensors (NLRP1, NLRC4 and pyrin) which can also cause inflammasomopathies. Recent Findings Mutations in pyrin (S242R or E244K) destroy an inhibitory 14-3-3 binding site and result in the newly characterised disease pyrin-associated autoinflammation with neutrophilic dermatosis (PAAND). Moreover, a separate autoinflammatory disease driven by mevalonate kinase deficiency leads to defective RhoGTPase prenylation and subsequent loss of pyrin S242R phosphorylation, suggesting a shared mechanism of disease. Other inflammasomes such as NLRP1 and NLRC4 have had novel mutations described recently, which inform about the specific domains required for activation and autoinhibition. Summary This review covers recent advances in the study of inflammasomopathies, focussing on gene discoveries that elucidate new pathogenic mechanisms. . . . . Keywords Autoinflammatory disease Inflammasomopathy Inflammasome IL-1b IL-18 Introduction phenotypes. This is exemplified by the effectiveness of cyto- kine antagonism observed in autoinflammatory disorders, such Monogenic autoinflammatory diseases are a class of rare dis-

Journal

Current Rheumatology ReportsSpringer Journals

Published: May 30, 2018

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