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Genetic Regulation of Cell Death: Insights from Autoinflammatory Diseases

delete2025-04-25
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PRE
AI
H
Hirotsugu Oda *
A
Alessandro Annibaldi *
D
Daniel L. Kastner
I
Ivona Aksentijevich
DOI:10.1146/annurev-immunol-090222-105848delete
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Abstract

Abstract

En 中文
Metazoans have evolved innate antimicrobial defenses that promote cellular survival and proliferation. Countering the inevitable molecular mechanisms by which microbes sabotage these pathways, multicellular organisms rely on an alternative, perhaps more ancient, strategy that is the immune equivalent of suicide bombing: Infection triggers cell death programs that summon localized or even systemic inflammation. The study of human genetics has now unveiled a level of complexity that refutes the naive view that cell death is merely a blunt instrument or an evolutionary afterthought. To the contrary, findings from patients with rare diseases teach us that cell death-induced inflammation is a sophisticated, tightly choreographed process. We herein review the emerging body of evidence describing a group of illnesses- inborn errors of cell death, which define many of the molecular building blocks and regulatory elements controlling cell death-induced inflammation in humans-and provide a possible road map to countering this process across the spectrum of rare and common illnesses.
Keywords:
autoinflammatory diseases
mutations
cell death
apoptosis
necroptosis
ubiquitylation
inborn errors of cell death
IECDs
TNF
NF-KB

Journal

Annual Review of Immunology cover
Annual Review of Immunology
IF:
33.3
Papers:
775
Citations:
2.0W

Organization

U
Univ Cologne
Scholars:
1.3K
Papers: 563
Citations: 226
N
natl human genome res inst nhgri
Scholars:
9
Papers: 2
Citations: 1
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