ArticleThe Journal of experimental medicine2024
RAC2 gain-of-function variants causing inborn error of immunity drive NLRP3 inflammasome activation.
Article in The Journal of experimental medicine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT03869593 (Role of the NLRP3 Inflammasome in Escherichia Coli and Staphylococcus Aureus Bacteria), which is not on this map. Cited by 9 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Role of the NLRP3 Inflammasome in Escherichia Coli and Staphylococcus Aureus Bacteria
Who cites it
9 citing papers in PubMed.
- Targeting the KAT7/H3K14ac/RAC2 Axis Mediates OXPHOS to Promote Stemness Maintenance and Malignancy in Glioblastoma.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2026Article
- Bioinformatics analysis reveals shared gene signatures and molecular mechanisms between periodontitis and rheumatoid arthritis in the context of aging.Acta odontologica Scandinavica · 2026Article
- How Functional Variants Reconfigure the Rac2 Conformational Landscape.The journal of physical chemistry. B · 2026Article
- How Functional Variants Reconfigure the Rac2 Conformational Landscape.bioRxiv : the preprint server for biology · 2026Article
- Neuroimmune Regulation by TRPM2 Channels.Cells · 2026Review
- RAC2 orchestrates immune cell actin remodeling and migration.Frontiers in immunology · 2026Review
- METTL3-mediated methylation of RAC2 contributes to cell motility, oxidative stress and inflammation in TNF-α-stimulated rheumatoid arthritis fibroblast-like synovial cells.Journal of orthopaedic surgery and research · 2025Article
- Epitranscriptomic mechanisms and implications of RNA mTheranostics · 2025Review
- RAC2 gain-of-function variants causing inborn error of immunity drive NLRP3 inflammasome activation.The Journal of experimental medicine · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
26 authors.
Funding
Abstract
A growing number of patients presenting severe combined immunodeficiencies attributed to monoallelic RAC2 variants have been identified. The expression of the RHO GTPase RAC2 is restricted to the hematopoietic lineage. RAC2 variants have been described to cause immunodeficiencies associated with high frequency of infection, leukopenia, and autoinflammatory features. Here, we show that specific RAC2 activating mutations induce the NLRP3 inflammasome activation leading to the secretion of IL-1β and IL-18 from macrophages. This activation depends on the activation state of the RAC2 variant and is mediated by the downstream kinase PAK1. Inhibiting the RAC2-PAK1-NLRP3 inflammasome pathway might be considered as a potential treatment for these patients.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.