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08:15
Generation of a RIP1 Knockout U937 Cell Line Using the CRISPR-Cas9 System
Published on: April 11, 2025
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RIPK1-Associated Inborn Errors of Innate Immunity
Jiahui Zhang1,2, Taijie Jin1,2, Ivona Aksentijevich3
1The Key Laboratory of Biosystems Homeostasis & Protection of Ministry of Education, Life Sciences Institute, Zhejiang University, Hangzhou, China.
Frontiers in Immunology
|June 24, 2021
Summary
Receptor-interacting serine/threonine-protein kinase 1 (RIPK1) regulates cell death and inflammation. Human RIPK1 mutations cause autoinflammatory disorders, aiding patient identification.
Area of Science:
- Immunology
- Molecular Biology
- Genetics
Background:
- Receptor-interacting serine/threonine-protein kinase 1 (RIPK1) is crucial for apoptosis, necroptosis, and inflammation.
- Post-translational modifications (PTMs) like ubiquitination, phosphorylation, and cleavage regulate RIPK1 activity.
- Dysregulated RIPK1 function leads to immune disorders.
Purpose of the Study:
- To review the molecular pathogenesis of RIPK1-deficiency and cleavage-resistant RIPK1 induced autoinflammatory (CRIA) disorders.
- To summarize clinical manifestations for improved patient identification.
Main Methods:
- Literature review of RIPK1 function in model organisms and humans.
- Analysis of molecular mechanisms underlying RIPK1-related autoinflammatory diseases.
Main Results:
- RIPK1 loss-of-function (LoF) mutations and cleavage-deficient mutations identified in humans.
- These mutations lead to distinct autoinflammatory conditions.
Conclusions:
- Human RIPK1 mutations reveal its critical role in immune homeostasis.
- Understanding RIPK1 pathogenesis aids in diagnosing and managing CRIA disorders.
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