ArticleNature immunology2024
Genetic variants in UNC93B1 predispose to childhood-onset systemic lupus erythematosus.
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Article in Nature immunology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 37 papers.
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37citing papers in PubMed
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37 citing papers in PubMed.
- TLR7 in systemic lupus erythematosus: genetics and emerging therapies.Nature reviews. Rheumatology · 2026Review
- Familial lupus associated with aJournal of human immunity · 2026Article
- Machine learning-based predictive models and subtypes patterns in peripheral blood of schizophrenia based on a machine learning computational framework.Schizophrenia (Heidelberg, Germany) · 2026Article
- Clinical characteristics, management, and hematopoietic cell transplantation of patients with TLR8 gain-of-function.Blood advances · 2026Article
- Novel TLR7 gain-of-function variant and review of the associated disease spectrum.Journal of human immunity · 2026Article
- Endosome traffic in rheumatic diseases: mechanistic insights and therapeutic opportunities.Nature reviews. Rheumatology · 2026Review
- Macrophage retrotransposon expression is associated with lupus.Genes and immunity · 2026Article
- Insights into the pathogenesis of childhood-onset SLE in the past decade.Nature reviews. Rheumatology · 2026Review
- Mapping organ-associated autoantigenic landscapes in systemic lupus erythematosus.Frontiers in immunology · 2026Review
- Age and sex: dual drivers remodeling the anti-tumor immune microenvironment and shaping personalized immuno-oncology.Frontiers in immunology · 2026Review
- Immune ontogeny in childhood-onset systemic lupus erythematosus: effect of immune maturity on disease phenotype and therapeutic responses.Frontiers in immunology · 2026Review
- Juvenile-onset Systemic Lupus Erythematosus: Recent Advances in Pathogenesis and Treatment.Current rheumatology reports · 2025Review
- Recent insights into the role of innate immunity in lupus.Human molecular genetics · 2025Review
- Rheumatologic and Autoimmune Features of Inborn Errors of Immunity: Implications for Diagnosis and Management.Journal of human immunity · 2025Article
- Interferons in health and disease.Cell · 2025Review
- Leveraging genetics to understand ADAR1-mediated RNA editing in health and disease.Nature reviews. Genetics · 2025Review
- Involvement of nucleic acid-sensing toll-like receptors in human diseases and their controlling mechanisms.Journal of biomedical science · 2025Review
- From Rare to Common: Genetic Insights into TLR7 Variants in a Multicentric Spanish Study on COVID-19 Severity.Journal of clinical immunology · 2025Article
- Insights from the 2024 pediatric rheumatology basic/translational years in review.Pediatric rheumatology online journal · 2025Review
- Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee.Journal of human immunity · 2025Article
Corrections and comments
- Erratum issued
Authors and funding
25 authors.
Mahmoud Al-Azab *Department of Immunology, Guangzhou Institute of Paediatrics, Guangzhou Women and Children's Medical Centre, and State Key Laboratory of Respiratory Diseases, Guangzhou Medical University, Guangzhou, China.
Elina Idiiatullina *Department of Immunology, Guangzhou Institute of Paediatrics, Guangzhou Women and Children's Medical Centre, and State Key Laboratory of Respiratory Diseases, Guangzhou Medical University, Guangzhou, China.ORCID http://orcid.org/0000-0001-5324-2896
Ziyang LiuDepartment of Immunology, Guangzhou Institute of Paediatrics, Guangzhou Women and Children's Medical Centre, and State Key Laboratory of Respiratory Diseases, Guangzhou Medical University, Guangzhou, China.ORCID http://orcid.org/0000-0002-3067-9523
Meng LinDepartment of Immunology, Guangzhou Institute of Paediatrics, Guangzhou Women and Children's Medical Centre, and State Key Laboratory of Respiratory Diseases, Guangzhou Medical University, Guangzhou, China.
Katja Hrovat-SchaaleInflammation Division, Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.
Huifang XianDepartment of Immunology, Guangzhou Institute of Paediatrics, Guangzhou Women and Children's Medical Centre, and State Key Laboratory of Respiratory Diseases, Guangzhou Medical University, Guangzhou, China.
Jianheng ZhuDepartment of Immunology, Guangzhou Institute of Paediatrics, Guangzhou Women and Children's Medical Centre, and State Key Laboratory of Respiratory Diseases, Guangzhou Medical University, Guangzhou, China.
Mandy YangState Key Laboratory of Respiratory Diseases, School of Basic Medical Sciences, Guangzhou Medical University, Guangzhou, China.
Bingtai LuDepartment of Immunology, Guangzhou Institute of Paediatrics, Guangzhou Women and Children's Medical Centre, and State Key Laboratory of Respiratory Diseases, Guangzhou Medical University, Guangzhou, China.
Zhiyao ZhaoDepartment of Immunology, Guangzhou Institute of Paediatrics, Guangzhou Women and Children's Medical Centre, and State Key Laboratory of Respiratory Diseases, Guangzhou Medical University, Guangzhou, China.
Yiyi LiuDepartment of Immunology, Guangzhou Institute of Paediatrics, Guangzhou Women and Children's Medical Centre, and State Key Laboratory of Respiratory Diseases, Guangzhou Medical University, Guangzhou, China.
Jingjie ChangDepartment of Immunology, Guangzhou Institute of Paediatrics, Guangzhou Women and Children's Medical Centre, and State Key Laboratory of Respiratory Diseases, Guangzhou Medical University, Guangzhou, China.
Xiaotian LiDepartment of Immunology, Guangzhou Institute of Paediatrics, Guangzhou Women and Children's Medical Centre, and State Key Laboratory of Respiratory Diseases, Guangzhou Medical University, Guangzhou, China.
Caiqin GuoDepartment of Immunology, Guangzhou Institute of Paediatrics, Guangzhou Women and Children's Medical Centre, and State Key Laboratory of Respiratory Diseases, Guangzhou Medical University, Guangzhou, China.
Yunfeng LiuClinical Laboratory, Guangzhou Women and Children's Medical Centre, Guangzhou Medical University, Guangdong, China.
Qi WuDepartment of Immunology, Guangzhou Institute of Paediatrics, Guangzhou Women and Children's Medical Centre, and State Key Laboratory of Respiratory Diseases, Guangzhou Medical University, Guangzhou, China.
Jiazhang ChenDepartment of Immunology, Guangzhou Institute of Paediatrics, Guangzhou Women and Children's Medical Centre, and State Key Laboratory of Respiratory Diseases, Guangzhou Medical University, Guangzhou, China.
Chaoting LanDepartment of Immunology, Guangzhou Institute of Paediatrics, Guangzhou Women and Children's Medical Centre, and State Key Laboratory of Respiratory Diseases, Guangzhou Medical University, Guangzhou, China.
Ping ZengDepartment of Immunology, Guangzhou Institute of Paediatrics, Guangzhou Women and Children's Medical Centre, and State Key Laboratory of Respiratory Diseases, Guangzhou Medical University, Guangzhou, China.
Jun CuiSchool of Life Sciences, Sun Yat-sen University, Guangzhou, China.ORCID http://orcid.org/0000-0002-8000-3708
Xia GaoDepartment of Immunology, Guangzhou Institute of Paediatrics, Guangzhou Women and Children's Medical Centre, and State Key Laboratory of Respiratory Diseases, Guangzhou Medical University, Guangzhou, China.
Wenhao ZhouDepartment of Immunology, Guangzhou Institute of Paediatrics, Guangzhou Women and Children's Medical Centre, and State Key Laboratory of Respiratory Diseases, Guangzhou Medical University, Guangzhou, China.
Yan ZhangDepartment of Immunology, Guangzhou Institute of Paediatrics, Guangzhou Women and Children's Medical Centre, and State Key Laboratory of Respiratory Diseases, Guangzhou Medical University, Guangzhou, China.
Yuxia ZhangDepartment of Immunology, Guangzhou Institute of Paediatrics, Guangzhou Women and Children's Medical Centre, and State Key Laboratory of Respiratory Diseases, Guangzhou Medical University, Guangzhou, China. yuxia.zhang@gwcmc.org.ORCID http://orcid.org/0000-0003-2715-0925
Seth L MastersDepartment of Immunology, Guangzhou Institute of Paediatrics, Guangzhou Women and Children's Medical Centre, and State Key Laboratory of Respiratory Diseases, Guangzhou Medical University, Guangzhou, China. seth.masters@hudson.org.au.ORCID http://orcid.org/0000-0003-4763-576X
Funding
National Natural Science Foundation of China (National Science Foundation of China) 32250410295National Natural Science Foundation of China (National Science Foundation of China) 81873869National Natural Science Foundation of China (National Science Foundation of China) 82101911National Natural Science Foundation of China (National Science Foundation of China) 82125015
Abstract
Rare genetic variants in toll-like receptor 7 (TLR7) are known to cause lupus in humans and mice. UNC93B1 is a transmembrane protein that regulates TLR7 localization into endosomes. In the present study, we identify two new variants in UNC93B1 (T314A, located proximally to the TLR7 transmembrane domain, and V117L) in a cohort of east Asian patients with childhood-onset systemic lupus erythematosus. The V117L variant was associated with increased expression of type I interferons and NF-κB-dependent cytokines in patient plasma and immortalized B cells. THP-1 cells expressing the variant UNC93B1 alleles exhibited exaggerated responses to stimulation of TLR7/-8, but not TLR3 or TLR9, which could be inhibited by targeting the downstream signaling molecules, IRAK1/-4. Heterozygous mice expressing the orthologous Unc93b1
Indexed as
Genetic Predisposition to DiseaseLupus Erythematosus, SystemicToll-Like Receptor 7AdolescentAge of OnsetAnimalsB-LymphocytesChildFemaleGenetic VariationHumansInterferon Type IMaleMembrane Transport ProteinsMiceNF-kappa BInterferon Type IMembrane Transport ProteinsNF-kappa BTLR7 protein, humanToll-Like Receptor 7UNC93B1 protein, humanUNC93B1 protein, mouse
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