ArticleAnnals of the rheumatic diseases2019
NFIL3 mutations alter immune homeostasis and sensitise for arthritis pathology.
Article in Annals of the rheumatic diseases, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 38 citations in OpenAlex.
- Gut microbiota in children with juvenile idiopathic arthritis: characteristics, biomarker identification, and usefulness in clinical prediction.BMC genomics · 2020Trial
- Integrated Bioinformatics and Experimental Validation Reveal Macrophage Polarization-Related Biomarkers for Osteoarthritis Diagnosis.Journal of multidisciplinary healthcare · 2025Article
- Transcription Factor Activity Regulating Macrophage Heterogeneity during Skin Wound Healing.Journal of immunology (Baltimore, Md. : 1950) · 2024Article
- Fibroblast-like synoviocytes orchestrate daily rhythmic inflammation in arthritis.Open biology · 2024Article
- NFIL3 contributes to cytotoxic T lymphocyte-mediated killing.Open biology · 2024Article
- NFIL3/Tim3 axis regulates effector Th1 inflammation in COPD mice.Frontiers in immunology · 2024Article
- The role of transcription factors in shaping regulatory T cell identity.Nature reviews. Immunology · 2023Review
- DNA methylome profiling of blood to identify individuals in a pair of monozygotic twins.Genes & genomics · 2023Article
- A new border for circadian rhythm gene NFIL3 in diverse fields of cancer.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2023Review
- Genetic Background and Molecular Mechanisms of Juvenile Idiopathic Arthritis.International journal of molecular sciences · 2023Review
- Comparative analysis of intestinal microbiota composition and transcriptome in diploid and triploid Carassius auratus.BMC microbiology · 2023Article
- Identification of immune-related genes in diagnosing atherosclerosis with rheumatoid arthritis through bioinformatics analysis and machine learning.Frontiers in immunology · 2023Article
- Whole exome sequencing in a juvenile idiopathic arthritis large family with SERPINA1 gene mutations.BMC rheumatology · 2022Article
- NFIL3 deficiency alleviates EAE through regulating different immune cell subsets.Journal of advanced research · 2022Article
- NFIL3 and its immunoregulatory role in rheumatoid arthritis patients.Frontiers in immunology · 2022Article
- The neutrotime transcriptional signature defines a single continuum of neutrophils across biological compartments.Nature communications · 2021Article
- Article
- NFIL3 Facilitates Neutrophil Autophagy, Neutrophil Extracellular Trap Formation and Inflammation During GoutFrontiers in medicine · 2021Article
- Review
- Functional interactions between innate lymphoid cells and adaptive immunity.Nature reviews. Immunology · 2019Review
Corrections and comments
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Authors and funding
17 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectives
methodsHere, we characterised a kindred of two monozygotic twin girls with juvenile idiopathic arthritis at the genetic and immunological level, using whole exome sequencing, single cell sequencing and flow cytometry. Parallel studies were performed in a mouse model.
resultsThe patients inherited a novel p.M170I in NFIL3 from each of the parents. The mutant form of NFIL3 demonstrated reduced stability in vitro. The potential contribution of this mutation to arthritis susceptibility was demonstrated through a preclinical model, where Nfil3-deficient mice upregulated IL-1β production, with more severe arthritis symptoms on disease induction. Single cell sequencing of patient blood quantified the transcriptional dysfunctions present across the peripheral immune system, converging on IL-1β as a pivotal cytokine.
conclusionsNFIL3 mutation can sensitise for arthritis development, in mice and humans, and rewires the innate immune system for IL-1β over-production.
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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.