New players driving inflammation in monogenic autoinflammatory diseases.

Details

Serval ID
serval:BIB_4011C7574B1B
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Institution
Title
New players driving inflammation in monogenic autoinflammatory diseases.
Journal
Nature Reviews. Rheumatology
Author(s)
Martinon F., Aksentijevich I.
ISSN
1759-4804 (Electronic)
ISSN-L
1759-4790
Publication state
Published
Issued date
2015
Peer-reviewed
Oui
Volume
11
Number
1
Pages
11-20
Language
english
Abstract
Systemic autoinflammatory diseases are caused by abnormal activation of the cells that mediate innate immunity. In the past two decades, single-gene defects in different pathways, driving clinically distinct autoinflammatory syndromes, have been identified. Studies of these aberrant pathways have substantially advanced understanding of the cellular mechanisms that contribute to mounting effective and balanced innate immune responses. For example, mutations affecting the function of cytosolic immune sensors known as inflammasomes and the IL-1 signalling pathway can trigger excessive inflammation. A surge in discovery of new genes associated with autoinflammation has pointed to other mechanisms of disease linking innate immune responses to a number of basic cellular pathways, such as maintenance of protein homeostasis (proteostasis), protein misfolding and clearance, endoplasmic reticulum stress and mitochondrial stress, metabolic stress, autophagy and abnormalities in differentiation and development of myeloid cells. Although the spectrum of autoinflammatory diseases has been steadily expanding, a substantial number of patients remain undiagnosed. Next-generation sequencing technologies will be instrumental in finding disease-causing mutations in as yet uncharacterized diseases. As more patients are reported to have clinical features of autoinflammation and immunodeficiency or autoimmunity, the complex interactions between the innate and adaptive immune systems are unveiled.
Pubmed
Web of science
Create date
15/12/2014 13:25
Last modification date
20/08/2019 13:37
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