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Cytokines in Autoinflammation

  • Angela Rösen-WolffEmail author
  • Anna RubartelliEmail author
Chapter

Abstract

Autoinflammatory diseases represent an expanding spectrum of diseases characterized by recurrent episodes of fever and systemic inflammation, due to disorders of innate immunity. Since the concept of autoinflammation was first affirmed in 1999 to define TNF-receptor associated periodic syndrome (TRAPS), many other monogenic autoinflammatory diseases have been identified. Uncontrolled secretion of IL-1β is responsible for the many of these syndromes, as also confirmed by the dramatic clinical response to IL-1 blockade. More recently, different mechanisms have been implicated in the pathophysiology of several monogenic autoinflammatory diseases, including cell stress, dysregulation in NF-κB signaling, ubiquitination, protein folding, type I interferon production and complement activation. In this chapter, we discuss IL-1β and other members of the IL-1 family and their inhibitors involved in monogenic autoinflammatory diseases, focusing on the mechanisms underlying their secretion in health and disease. Furthermore, we describe type I interferons and their role in autoinflammation.

Keywords

IL-1 family Inflammasome Caspases Gasdermin D Autoinflammatory diseases 

Abbreviations

ADAR

Adenosine deaminase

AGS

Aicardi–Goutières syndrome

AIM2

Absent in melanoma 2

ASC

Associated speck-like protein containing a CARD

CAPS

Cryopyrin-associated periodic syndromes

CARD

C-terminal caspase recruitment domain

cGAMP

cyclic GMP-AMP

cGAS

cyclic GMP-AMP synthase

COX-2

Cyclooxygenase type 2

DAI

DNA-dependent activator of IFN-regulatory factors

DAMPs

Damage-associated molecular patterns

DIRA

Deficiency of IL-1Ra

DITRA

Deficiency of IL-36Ra

FMF

Familial Mediterranean fever

GSDMD

Gasdermin-D

IFN

Interferon

IFNAR

Interferon alpha/beta receptor

IL

Interleukin

IL-1F

IL-1 family

iNOS

Type 2 phospholipase A and inducible nitric oxide synthase

ISG

Interferon stimulated gene

MAS

Macrophage activation syndrome

MDA5

Melanoma differentiation associated gene 5

NK

Natural killer

NL

Nucleotide-binding domain leucine-rich repeat containing

NO

Nitric oxide

PAMPs

Pathogen associated molecular patterns

PGE2

Prostaglandin-E2

PRAAS

Proteasome-associated autoinflammatory syndromes

PYD

Pyrin domain

Ra

Receptor antagonist

REDD1

Regulated in development and DNA damage responses 1

RIG-I

Retinoic acid inducible gene I

RIP

Receptor interacting protein

RNASEH

Ribonuclease H2 subunits

ROS

Reactive oxygen species

SAMHD1

Sam domain- and HD domain containing protein

SAVI

STING-associated vasculopathy with onset in infancy

SOCS

Suppressor of cytokine signaling

STING

Stimulator of interferon genes

TRAPS

TNF-receptor associated periodic syndrome

TREX 1

Three prime repair exonuclease 1

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Copyright information

© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.Department of PediatricsUniversity Hospital Carl Gustav CarusDresdenGermany
  2. 2.Cell Biology UnitIRCCS Ospedale Policlinico San MartinoGenoaItaly

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