{"id":"https://openalex.org/W7203975646","doi":"https://doi.org/10.1016/j.ard.2026.07.024","title":"The private truncating Toll-like receptor 7 p.Glu834* variant associates with juvenile-onset systemic lupus erythematosus and pathological cytokine expression in vitro","display_name":"The private truncating Toll-like receptor 7 p.Glu834* variant associates with juvenile-onset systemic lupus erythematosus and pathological cytokine expression in vitro","publication_year":2026,"publication_date":"2026-08-01","ids":{"openalex":"https://openalex.org/W7203975646","doi":"https://doi.org/10.1016/j.ard.2026.07.024","pmid":"https://pubmed.ncbi.nlm.nih.gov/42632785"},"language":"en","primary_location":{"id":"doi:10.1016/j.ard.2026.07.024","doi":"https://doi.org/10.1016/j.ard.2026.07.024","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.ard.2026.07.024","pdf_url":null,"source":{"id":"https://openalex.org/S25650217","display_name":"Annals of the Rheumatic Diseases","issn_l":"0003-4967","issn":["0003-4967","1468-2060"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of the Rheumatic Diseases","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","pubmed"],"open_access":{"is_oa":true,"oa_status":"hybrid","oa_url":"https://doi.org/10.1016/j.ard.2026.07.024","any_repository_has_fulltext":false},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5085167332","display_name":"Yves Renaudineau","orcid":"https://orcid.org/0000-0001-5098-5002","observed_orcids":["https://orcid.org/0000-0001-5098-5002"]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I134560555","display_name":"Universit\u00e9 Toulouse III - Paul Sabatier","ror":"https://ror.org/02v6kpv12","country_code":"FR","type":"education","lineage":["https://openalex.org/I134560555","https://openalex.org/I4405258862"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I3019448017","display_name":"Centre Hospitalier Universitaire de Toulouse","ror":"https://ror.org/017h5q109","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3019448017"]},{"id":"https://openalex.org/I4387153827","display_name":"Institut Toulousain des Maladies Infectieuses et Inflammatoires","ror":"https://ror.org/00n90tt57","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4387153827","https://openalex.org/I4405258862"]},{"id":"https://openalex.org/I4405258862","display_name":"Universit\u00e9 de Toulouse","ror":"https://ror.org/01ahyrz84","country_code":"FR","type":"education","lineage":["https://openalex.org/I4405258862"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Yves Renaudineau","raw_affiliation_strings":["Immunology Department Laboratory, Referral Medical Biology Laboratory, Instituted F\u00e9d\u00e9ratif de Biologie, Toulouse University Hospital Center, Toulouse, France; INFINITy, Toulouse Institute for Infectious and Inflammatory Diseases, INSERM U1291, CNRS U5051, University Toulouse III, Toulouse, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Immunology Department Laboratory, Referral Medical Biology Laboratory, Instituted F\u00e9d\u00e9ratif de Biologie, Toulouse University Hospital Center, Toulouse, France; INFINITy, Toulouse Institute for Infectious and Inflammatory Diseases, INSERM U1291, CNRS U5051, University Toulouse III, Toulouse, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I134560555","https://openalex.org/I154526488","https://openalex.org/I3019448017","https://openalex.org/I4387153827","https://openalex.org/I4405258862"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5110702543","display_name":"Jenny Hawkes","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I146655781","display_name":"University of Liverpool","ror":"https://ror.org/04xs57h96","country_code":"GB","type":"education","lineage":["https://openalex.org/I146655781"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Jenny Hawkes","raw_affiliation_strings":["Department of Women's & Children's Health, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Women's & Children's Health, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, UK","institution_ids":["https://openalex.org/I146655781"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5107804988","display_name":"Katarzyna Mizgalska","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2613432","display_name":"University of South Florida","ror":"https://ror.org/032db5x82","country_code":"US","type":"education","lineage":["https://openalex.org/I2613432"]},{"id":"https://openalex.org/I3019308854","display_name":"Moffitt Cancer Center","ror":"https://ror.org/01xf75524","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I3019308854"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Katarzyna Mizgalska","raw_affiliation_strings":["Department of Chemistry, University of South Florida, Tampa, FL, USA; Department of Machine Learning, Moffitt Cancer Center, Tampa, FL, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Chemistry, University of South Florida, Tampa, FL, USA; Department of Machine Learning, Moffitt Cancer Center, Tampa, FL, USA","institution_ids":["https://openalex.org/I2613432","https://openalex.org/I3019308854"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5075268551","display_name":"Valentina Natoli","orcid":"https://orcid.org/0000-0001-6733-4134","observed_orcids":["https://orcid.org/0000-0001-6733-4134"]},"institutions":[{"id":"https://openalex.org/I146655781","display_name":"University of Liverpool","ror":"https://ror.org/04xs57h96","country_code":"GB","type":"education","lineage":["https://openalex.org/I146655781"]},{"id":"https://openalex.org/I2802229882","display_name":"Centre Hospitalier Universitaire Vaudois","ror":"https://ror.org/05a353079","country_code":"CH","type":"healthcare","lineage":["https://openalex.org/I2802229882"]},{"id":"https://openalex.org/I83816512","display_name":"University of Genoa","ror":"https://ror.org/0107c5v14","country_code":"IT","type":"education","lineage":["https://openalex.org/I83816512"]}],"countries":["CH","GB","IT"],"is_corresponding":false,"raw_author_name":"Valentina Natoli","raw_affiliation_strings":["Department of Women's & Children's Health, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, UK; Department of Woman-Mother-Child, Paediatric Immunology, Allergology and Rheumatology Unit, Lausanne University Hospital (CHUV), Lausanne, Switzerland; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal-Child Sciences (DiNOGMI), University of Genoa, Genoa, Italy"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Women's & Children's Health, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, UK; Department of Woman-Mother-Child, Paediatric Immunology, Allergology and Rheumatology Unit, Lausanne University Hospital (CHUV), Lausanne, Switzerland; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal-Child Sciences (DiNOGMI), University of Genoa, Genoa, Italy","institution_ids":["https://openalex.org/I146655781","https://openalex.org/I2802229882","https://openalex.org/I83816512"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5099989483","display_name":"Joni Roachdown","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I146655781","display_name":"University of Liverpool","ror":"https://ror.org/04xs57h96","country_code":"GB","type":"education","lineage":["https://openalex.org/I146655781"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Joni Roachdown","raw_affiliation_strings":["Department of Women's & Children's Health, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Women's & Children's Health, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, UK","institution_ids":["https://openalex.org/I146655781"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5134778984","display_name":"Lola Cusin","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I146655781","display_name":"University of Liverpool","ror":"https://ror.org/04xs57h96","country_code":"GB","type":"education","lineage":["https://openalex.org/I146655781"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Lola Cusin","raw_affiliation_strings":["Department of Women's & Children's Health, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Women's & Children's Health, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, UK","institution_ids":["https://openalex.org/I146655781"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5033052846","display_name":"Francesca Sposito","orcid":"https://orcid.org/0009-0007-0272-0318","observed_orcids":["https://orcid.org/0009-0007-0272-0318"]},"institutions":[{"id":"https://openalex.org/I146655781","display_name":"University of Liverpool","ror":"https://ror.org/04xs57h96","country_code":"GB","type":"education","lineage":["https://openalex.org/I146655781"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Francesca Sposito","raw_affiliation_strings":["Department of Women's & Children's Health, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Women's & Children's Health, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, UK","institution_ids":["https://openalex.org/I146655781"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5134812504","display_name":"Ethan Sen","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800516725","display_name":"Royal Victoria Infirmary","ror":"https://ror.org/01p19k166","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800516725","https://openalex.org/I2801663869"]},{"id":"https://openalex.org/I4210138797","display_name":"Great North Children's Hospital","ror":"https://ror.org/0483p1w82","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2801663869","https://openalex.org/I4210138797"]},{"id":"https://openalex.org/I84884186","display_name":"Newcastle University","ror":"https://ror.org/01kj2bm70","country_code":"GB","type":"education","lineage":["https://openalex.org/I84884186"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Ethan Sen","raw_affiliation_strings":["Department of Paediatric Rheumatology, Paediatric Rheumatology, Great North Children's Hospital, Royal Victoria Infirmary, Newcastle upon Tyne, UK; Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatric Rheumatology, Paediatric Rheumatology, Great North Children's Hospital, Royal Victoria Infirmary, Newcastle upon Tyne, UK; Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, UK","institution_ids":["https://openalex.org/I2800516725","https://openalex.org/I4210138797","https://openalex.org/I84884186"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111990081","display_name":"Alison Kinder","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800281165","display_name":"Leicester Royal Infirmary","ror":"https://ror.org/03jkz2y73","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800281165","https://openalex.org/I2802445252"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Alison Kinder","raw_affiliation_strings":["Department of Paediatrics, Leicester Royal Infirmary, Leicester, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics, Leicester Royal Infirmary, Leicester, UK","institution_ids":["https://openalex.org/I2800281165"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061668145","display_name":"Mathieu Fusaro","orcid":"https://orcid.org/0000-0002-5332-3626","observed_orcids":["https://orcid.org/0000-0002-5332-3626"]},"institutions":[{"id":"https://openalex.org/I1294671590","display_name":"Centre National de la Recherche Scientifique","ror":"https://ror.org/02feahw73","country_code":"FR","type":"government","lineage":["https://openalex.org/I1294671590"]},{"id":"https://openalex.org/I134560555","display_name":"Universit\u00e9 Toulouse III - Paul Sabatier","ror":"https://ror.org/02v6kpv12","country_code":"FR","type":"education","lineage":["https://openalex.org/I134560555","https://openalex.org/I4405258862"]},{"id":"https://openalex.org/I154526488","display_name":"Inserm","ror":"https://ror.org/02vjkv261","country_code":"FR","type":"government","lineage":["https://openalex.org/I154526488"]},{"id":"https://openalex.org/I3019448017","display_name":"Centre Hospitalier Universitaire de Toulouse","ror":"https://ror.org/017h5q109","country_code":"FR","type":"healthcare","lineage":["https://openalex.org/I3019448017"]},{"id":"https://openalex.org/I4387153827","display_name":"Institut Toulousain des Maladies Infectieuses et Inflammatoires","ror":"https://ror.org/00n90tt57","country_code":"FR","type":"facility","lineage":["https://openalex.org/I1294671590","https://openalex.org/I154526488","https://openalex.org/I4387153827","https://openalex.org/I4405258862"]},{"id":"https://openalex.org/I4405258862","display_name":"Universit\u00e9 de Toulouse","ror":"https://ror.org/01ahyrz84","country_code":"FR","type":"education","lineage":["https://openalex.org/I4405258862"]}],"countries":["FR"],"is_corresponding":false,"raw_author_name":"Mathieu Fusaro","raw_affiliation_strings":["Immunology Department Laboratory, Referral Medical Biology Laboratory, Instituted F\u00e9d\u00e9ratif de Biologie, Toulouse University Hospital Center, Toulouse, France; INFINITy, Toulouse Institute for Infectious and Inflammatory Diseases, INSERM U1291, CNRS U5051, University Toulouse III, Toulouse, France"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Immunology Department Laboratory, Referral Medical Biology Laboratory, Instituted F\u00e9d\u00e9ratif de Biologie, Toulouse University Hospital Center, Toulouse, France; INFINITy, Toulouse Institute for Infectious and Inflammatory Diseases, INSERM U1291, CNRS U5051, University Toulouse III, Toulouse, France","institution_ids":["https://openalex.org/I1294671590","https://openalex.org/I134560555","https://openalex.org/I154526488","https://openalex.org/I3019448017","https://openalex.org/I4387153827","https://openalex.org/I4405258862"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040253164","display_name":"Wesley H. Brooks","orcid":"https://orcid.org/0000-0002-5604-3769","observed_orcids":["https://orcid.org/0000-0002-5604-3769"]},"institutions":[{"id":"https://openalex.org/I2613432","display_name":"University of South Florida","ror":"https://ror.org/032db5x82","country_code":"US","type":"education","lineage":["https://openalex.org/I2613432"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Wesley H. Brooks","raw_affiliation_strings":["Department of Chemistry, University of South Florida, Tampa, FL, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Chemistry, University of South Florida, Tampa, FL, USA","institution_ids":["https://openalex.org/I2613432"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5061379138","display_name":"Wayne C. Guida","orcid":"https://orcid.org/0000-0003-3353-4853","observed_orcids":["https://orcid.org/0000-0003-3353-4853"]},"institutions":[{"id":"https://openalex.org/I2613432","display_name":"University of South Florida","ror":"https://ror.org/032db5x82","country_code":"US","type":"education","lineage":["https://openalex.org/I2613432"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Wayne Guida","raw_affiliation_strings":["Department of Chemistry, University of South Florida, Tampa, FL, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Chemistry, University of South Florida, Tampa, FL, USA","institution_ids":["https://openalex.org/I2613432"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5027580418","display_name":"Aleksandra M. Karolak","orcid":"https://orcid.org/0000-0001-8430-7138","observed_orcids":["https://orcid.org/0000-0001-8430-7138"]},"institutions":[{"id":"https://openalex.org/I3019308854","display_name":"Moffitt Cancer Center","ror":"https://ror.org/01xf75524","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I3019308854"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Aleksandra Karolak","raw_affiliation_strings":["Department of Machine Learning, Moffitt Cancer Center, Tampa, FL, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Machine Learning, Moffitt Cancer Center, Tampa, FL, USA","institution_ids":["https://openalex.org/I3019308854"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5016576825","display_name":"Amandine Charras","orcid":"https://orcid.org/0000-0001-6760-5459","observed_orcids":["https://orcid.org/0000-0001-6760-5459"]},"institutions":[{"id":"https://openalex.org/I146655781","display_name":"University of Liverpool","ror":"https://ror.org/04xs57h96","country_code":"GB","type":"education","lineage":["https://openalex.org/I146655781"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Amandine Charras","raw_affiliation_strings":["Department of Women's & Children's Health, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Women's & Children's Health, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, UK","institution_ids":["https://openalex.org/I146655781"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5041204910","display_name":"Michael William Beresford","orcid":"https://orcid.org/0000-0002-5400-9911","observed_orcids":["https://orcid.org/0000-0002-5400-9911"]},"institutions":[{"id":"https://openalex.org/I146655781","display_name":"University of Liverpool","ror":"https://ror.org/04xs57h96","country_code":"GB","type":"education","lineage":["https://openalex.org/I146655781"]},{"id":"https://openalex.org/I4210094656","display_name":"Alder Hey Children's NHS Foundation Trust","ror":"https://ror.org/00p18zw56","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210094656"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Michael W. Beresford","raw_affiliation_strings":["Department of Women's & Children's Health, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, UK; Department of Rheumatology, Alder Hey Children's National Health Service Foundation Trust, Liverpool, UK"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Women's & Children's Health, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, UK; Department of Rheumatology, Alder Hey Children's National Health Service Foundation Trust, Liverpool, UK","institution_ids":["https://openalex.org/I146655781","https://openalex.org/I4210094656"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5010338029","display_name":"Christian Michael Hedrich","orcid":"https://orcid.org/0000-0002-1295-6179","observed_orcids":["https://orcid.org/0000-0002-1295-6179"]},"institutions":[{"id":"https://openalex.org/I146655781","display_name":"University of Liverpool","ror":"https://ror.org/04xs57h96","country_code":"GB","type":"education","lineage":["https://openalex.org/I146655781"]},{"id":"https://openalex.org/I4210094656","display_name":"Alder Hey Children's NHS Foundation Trust","ror":"https://ror.org/00p18zw56","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210094656"]}],"countries":["GB"],"is_corresponding":true,"raw_author_name":"Christian M Hedrich","raw_affiliation_strings":["Department of Women's & Children's Health, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, UK; Department of Rheumatology, Alder Hey Children's National Health Service Foundation Trust, Liverpool, UK. Electronic address: christian.hedrich@liverpool.ac.uk"],"raw_orcid":"https://orcid.org/0000-0002-1295-6179","affiliations":[{"raw_affiliation_string":"Department of Women's & Children's Health, Institute of Life Course and Medical Sciences, University of Liverpool, Liverpool, UK; Department of Rheumatology, Alder Hey Children's National Health Service Foundation Trust, Liverpool, UK. Electronic address: christian.hedrich@liverpool.ac.uk","institution_ids":["https://openalex.org/I146655781","https://openalex.org/I4210094656"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5005017903","display_name":"Carla Roberts","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I146655781","display_name":"University of Liverpool","ror":"https://ror.org/04xs57h96","country_code":"GB","type":"education","lineage":["https://openalex.org/I146655781"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Carla Roberts","raw_affiliation_strings":["Department of Women\u2019s & Children\u2019s Health, Institute of Life Course and Medical Sciences, University of Liverpool"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Women\u2019s & Children\u2019s Health, Institute of Life Course and Medical Sciences, University of Liverpool","institution_ids":["https://openalex.org/I146655781"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5091100617","display_name":"Eslam Al\u2010Abadi","orcid":"https://orcid.org/0000-0002-1999-6341","observed_orcids":["https://orcid.org/0000-0002-1999-6341"]},"institutions":[{"id":"https://openalex.org/I4210100347","display_name":"Birmingham Children's Hospital","ror":"https://ror.org/017k80q27","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210100347","https://openalex.org/I4210155225"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Eslam Al-Abadi","raw_affiliation_strings":["Department of Rheumatology, Birmingham Children\u2019s Hospital, Birmingham"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Rheumatology, Birmingham Children\u2019s Hospital, Birmingham","institution_ids":["https://openalex.org/I4210100347"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5085664956","display_name":"Kate Armon","orcid":"https://orcid.org/0000-0003-2835-4903","observed_orcids":["https://orcid.org/0000-0003-2835-4903"]},"institutions":[{"id":"https://openalex.org/I2802466933","display_name":"Cambridge University Hospitals NHS Foundation Trust","ror":"https://ror.org/04v54gj93","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2802466933"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Kate Armon","raw_affiliation_strings":["Department of Paediatric Rheumatology, Cambridge University Hospitals, Cambridge"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatric Rheumatology, Cambridge University Hospitals, Cambridge","institution_ids":["https://openalex.org/I2802466933"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042400232","display_name":"Kathryn Bailey","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I125671874","display_name":"National Health Service","ror":"https://ror.org/02wnqcb97","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I125671874","https://openalex.org/I1311074006"]},{"id":"https://openalex.org/I40120149","display_name":"University of Oxford","ror":"https://ror.org/052gg0110","country_code":"GB","type":"education","lineage":["https://openalex.org/I40120149"]},{"id":"https://openalex.org/I4210147381","display_name":"Oxford University Hospitals NHS Trust","ror":"https://ror.org/03h2bh287","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210147381"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Kathryn Bailey","raw_affiliation_strings":["Department of Paediatric Rheumatology, Oxford University Hospitals National Health Service Foundation Trust, Oxford"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatric Rheumatology, Oxford University Hospitals National Health Service Foundation Trust, Oxford","institution_ids":["https://openalex.org/I125671874","https://openalex.org/I40120149","https://openalex.org/I4210147381"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5083838326","display_name":"Coziana Ciurtin","orcid":"https://orcid.org/0000-0002-8911-4113","observed_orcids":["https://orcid.org/0000-0002-8911-4113"]},"institutions":[{"id":"https://openalex.org/I45129253","display_name":"University College London","ror":"https://ror.org/02jx3x895","country_code":"GB","type":"education","lineage":["https://openalex.org/I124357947","https://openalex.org/I45129253"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Coziana Ciurtin","raw_affiliation_strings":["Centre for Adolescent Rheumatology, University College London, London"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Centre for Adolescent Rheumatology, University College London, London","institution_ids":["https://openalex.org/I45129253"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5111450247","display_name":"Janet M. Gardner-Medwin","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I7882870","display_name":"University of Glasgow","ror":"https://ror.org/00vtgdb53","country_code":"GB","type":"education","lineage":["https://openalex.org/I7882870"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Janet Gardner-Medwin","raw_affiliation_strings":["Department of Child Health, University of Glasgow, Glasgow"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Child Health, University of Glasgow, Glasgow","institution_ids":["https://openalex.org/I7882870"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5059910488","display_name":"Kirsty Haslam","orcid":"https://orcid.org/0009-0006-0725-0928","observed_orcids":["https://orcid.org/0009-0006-0725-0928"]},"institutions":[{"id":"https://openalex.org/I2800495676","display_name":"Bradford Royal Infirmary","ror":"https://ror.org/01ck0pr88","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800495676","https://openalex.org/I4210166758"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Kirsty Haslam","raw_affiliation_strings":["Department of Paediatrics, Bradford Royal Infirmary, Bradford"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics, Bradford Royal Infirmary, Bradford","institution_ids":["https://openalex.org/I2800495676"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5112712333","display_name":"Daniel P. Hawley","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210164839","display_name":"Sheffield Children's Hospital","ror":"https://ror.org/05mshxb09","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210121472","https://openalex.org/I4210164839"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Daniel P. Hawley","raw_affiliation_strings":["Department of Paediatric Rheumatology, Sheffield Children\u2019s Hospital, Sheffield"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatric Rheumatology, Sheffield Children\u2019s Hospital, Sheffield","institution_ids":["https://openalex.org/I4210164839"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5138395656","display_name":"Alice Leahy","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801388914","display_name":"Southampton General Hospital","ror":"https://ror.org/011cztj49","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2801388914","https://openalex.org/I2802965805"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Alice Leahy","raw_affiliation_strings":["Department of Paediatric Rheumatology, Southampton General Hospital, Southampton"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatric Rheumatology, Southampton General Hospital, Southampton","institution_ids":["https://openalex.org/I2801388914"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5147862577","display_name":"Valentina Leone","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2799390153","display_name":"Leeds Teaching Hospitals NHS Trust","ror":"https://ror.org/00v4dac24","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2799390153"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Valentina Leone","raw_affiliation_strings":["Department of Paediatric Rheumatology, Leeds Children Hospital, Leeds"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatric Rheumatology, Leeds Children Hospital, Leeds","institution_ids":["https://openalex.org/I2799390153"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5090311068","display_name":"Flora McErlane","orcid":"https://orcid.org/0000-0002-8434-1771","observed_orcids":["https://orcid.org/0000-0002-8434-1771","https://orcid.org/0000-0002-2328-2122"]},"institutions":[{"id":"https://openalex.org/I2800516725","display_name":"Royal Victoria Infirmary","ror":"https://ror.org/01p19k166","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800516725","https://openalex.org/I2801663869"]},{"id":"https://openalex.org/I4210138797","display_name":"Great North Children's Hospital","ror":"https://ror.org/0483p1w82","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2801663869","https://openalex.org/I4210138797"]},{"id":"https://openalex.org/I84884186","display_name":"Newcastle University","ror":"https://ror.org/01kj2bm70","country_code":"GB","type":"education","lineage":["https://openalex.org/I84884186"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Flora McErlane","raw_affiliation_strings":["Paediatric Rheumatology, Great North Children\u2019s Hospital, Royal Victoria Infirmary, Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Paediatric Rheumatology, Great North Children\u2019s Hospital, Royal Victoria Infirmary, Institute of Cellular Medicine, Newcastle University, Newcastle upon Tyne","institution_ids":["https://openalex.org/I2800516725","https://openalex.org/I4210138797","https://openalex.org/I84884186"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5034471424","display_name":"Gita Modgil","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2800820451","display_name":"Musgrove Park Hospital","ror":"https://ror.org/042fv2404","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800820451"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Gita Modgil","raw_affiliation_strings":["Department of Paediatrics, Musgrove Park Hospital, Taunton"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatrics, Musgrove Park Hospital, Taunton","institution_ids":["https://openalex.org/I2800820451"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5020311152","display_name":"Clarissa Pilkington","orcid":"https://orcid.org/0000-0003-2289-2428","observed_orcids":["https://orcid.org/0000-0003-2289-2428"]},"institutions":[{"id":"https://openalex.org/I2800129641","display_name":"Great Ormond Street Hospital","ror":"https://ror.org/00zn2c847","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800129641","https://openalex.org/I2800349819"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Clarissa Pilkington","raw_affiliation_strings":["Department of Paediatric Rheumatology, Great Ormond Street Hospital, London"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatric Rheumatology, Great Ormond Street Hospital, London","institution_ids":["https://openalex.org/I2800129641"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5015700716","display_name":"Athimalaipet Vaidyanathan Ramanan","orcid":"https://orcid.org/0000-0001-8663-2401","observed_orcids":["https://orcid.org/0000-0001-8663-2401"]},"institutions":[{"id":"https://openalex.org/I2800789647","display_name":"University Hospitals Bristol NHS Foundation Trust","ror":"https://ror.org/04nm1cv11","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I2800789647","https://openalex.org/I4392738148","https://openalex.org/I4405276282"]},{"id":"https://openalex.org/I36234482","display_name":"University of Bristol","ror":"https://ror.org/0524sp257","country_code":"GB","type":"education","lineage":["https://openalex.org/I36234482"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Athimalaipet V. Ramanan","raw_affiliation_strings":["University Hospitals Bristol National Health Service Foundation Trust & Bristol Medical School, University of Bristol, Bristol"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"University Hospitals Bristol National Health Service Foundation Trust & Bristol Medical School, University of Bristol, Bristol","institution_ids":["https://openalex.org/I2800789647","https://openalex.org/I36234482"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5104003698","display_name":"Satyapal Rangaraj","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I1334287468","display_name":"Nottingham University Hospitals NHS Trust","ror":"https://ror.org/05y3qh794","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I1334287468"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Satyapal Rangaraj","raw_affiliation_strings":["Department of Paediatric Rheumatology, Nottingham University Hospitals, Nottingham"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatric Rheumatology, Nottingham University Hospitals, Nottingham","institution_ids":["https://openalex.org/I1334287468"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5147814409","display_name":"Phil Riley","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I4210160221","display_name":"Royal Manchester Children's Hospital","ror":"https://ror.org/052vjje65","country_code":"GB","type":"healthcare","lineage":["https://openalex.org/I4210092852","https://openalex.org/I4210160221"]}],"countries":["GB"],"is_corresponding":false,"raw_author_name":"Phil Riley","raw_affiliation_strings":["Department of Paediatric Rheumatology, Royal Manchester Children\u2019s Hospital, Manchester"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Paediatric Rheumatology, Royal Manchester Children\u2019s Hospital, Manchester","institution_ids":["https://openalex.org/I4210160221"]}]}],"institutions":[],"countries_distinct_count":5,"institutions_distinct_count":33,"corresponding_author_ids":["https://openalex.org/A5010338029"],"corresponding_institution_ids":["https://openalex.org/I146655781","https://openalex.org/I4210094656"],"apc_list":{"value":4870,"currency":"USD","value_usd":4870},"apc_paid":{"value":4870,"currency":"USD","value_usd":4870},"fwci":0.0,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":{"value":0.60835952,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"12","issue":null,"first_page":"100363","last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10308","display_name":"Systemic Lupus Erythematosus Research","score":0.9843999743461609,"subfield":{"id":"https://openalex.org/subfields/2745","display_name":"Rheumatology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10308","display_name":"Systemic Lupus Erythematosus Research","score":0.9843999743461609,"subfield":{"id":"https://openalex.org/subfields/2745","display_name":"Rheumatology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10371","display_name":"Immune Response and Inflammation","score":0.013899999670684338,"subfield":{"id":"https://openalex.org/subfields/2403","display_name":"Immunology"},"field":{"id":"https://openalex.org/fields/24","display_name":"Immunology and Microbiology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T11078","display_name":"Inflammasome and immune disorders","score":0.0007999999797903001,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/pediatric-systemic-lupus-erythematosus","display_name":"pediatric lupus","score":0.9129999876022339},{"id":"https://openalex.org/keywords/tlr7","display_name":"TLR7","score":0.9110000133514404},{"id":"https://openalex.org/keywords/truncating-variants","display_name":"truncating mutations","score":0.8460000157356262},{"id":"https://openalex.org/keywords/unc93b1","display_name":"UNC93B1","score":0.8180000185966492},{"id":"https://openalex.org/keywords/type-i-interferon","display_name":"type I interferon","score":0.9229999780654907},{"id":"https://openalex.org/keywords/pro-inflammatory-cytokines","display_name":"inflammatory cytokines","score":0.8899999856948853},{"id":"https://openalex.org/keywords/neuropsychiatric-systemic-lupus-erythematosus","display_name":"neuropsychiatric lupus","score":0.7710000276565552},{"id":"https://openalex.org/keywords/neurodevelopmental-delay","display_name":"neurodevelopmental delay","score":0.8080000281333923},{"id":"https://openalex.org/keywords/x-chromosome","display_name":"X chromosome","score":0.3619999885559082},{"id":"https://openalex.org/keywords/genetic-risk-stratification","display_name":"genetic risk stratification","score":0.6679999828338623}],"concepts":[{"id":"https://openalex.org/C71924100","wikidata":"https://www.wikidata.org/wiki/Q11190","display_name":"Medicine","level":0,"score":0.8956999778747559},{"id":"https://openalex.org/C207886595","wikidata":"https://www.wikidata.org/wiki/Q1456138","display_name":"Pathological","level":2,"score":0.6223999857902527},{"id":"https://openalex.org/C203014093","wikidata":"https://www.wikidata.org/wiki/Q101929","display_name":"Immunology","level":1,"score":0.6197999715805054},{"id":"https://openalex.org/C2778690821","wikidata":"https://www.wikidata.org/wiki/Q212354","display_name":"Cytokine","level":2,"score":0.59579998254776},{"id":"https://openalex.org/C170493617","wikidata":"https://www.wikidata.org/wiki/Q208467","display_name":"Receptor","level":2,"score":0.5218999981880188},{"id":"https://openalex.org/C2775915377","wikidata":"https://www.wikidata.org/wiki/Q188297","display_name":"Lupus erythematosus","level":3,"score":0.4973999857902527},{"id":"https://openalex.org/C202751555","wikidata":"https://www.wikidata.org/wiki/Q221681","display_name":"In vitro","level":2,"score":0.4846999943256378},{"id":"https://openalex.org/C2775855021","wikidata":"https://www.wikidata.org/wiki/Q968436","display_name":"Cytokine receptor","level":3,"score":0.476500004529953},{"id":"https://openalex.org/C163764329","wikidata":"https://www.wikidata.org/wiki/Q785022","display_name":"Autoantibody","level":3,"score":0.3513000011444092},{"id":"https://openalex.org/C2776670291","wikidata":"https://www.wikidata.org/wiki/Q1779300","display_name":"Connective tissue disease","level":4,"score":0.35030001401901245},{"id":"https://openalex.org/C2779075594","wikidata":"https://www.wikidata.org/wiki/Q8084905","display_name":"Autoimmune disease","level":3,"score":0.3391000032424927},{"id":"https://openalex.org/C502942594","wikidata":"https://www.wikidata.org/wiki/Q3421914","display_name":"Cancer research","level":1,"score":0.31200000643730164},{"id":"https://openalex.org/C2780942790","wikidata":"https://www.wikidata.org/wiki/Q372016","display_name":"Pathogenesis","level":2,"score":0.305400013923645},{"id":"https://openalex.org/C116016267","wikidata":"https://www.wikidata.org/wiki/Q18039826","display_name":"Interleukin-21 receptor","level":3,"score":0.2904999852180481},{"id":"https://openalex.org/C2780648854","wikidata":"https://www.wikidata.org/wiki/Q2745824","display_name":"Immunopathology","level":2,"score":0.2856999933719635},{"id":"https://openalex.org/C2776912625","wikidata":"https://www.wikidata.org/wiki/Q1485","display_name":"Systemic lupus erythematosus","level":3,"score":0.2838999927043915},{"id":"https://openalex.org/C2780130043","wikidata":"https://www.wikidata.org/wiki/Q192360","display_name":"Autoimmunity","level":3,"score":0.2822999954223633},{"id":"https://openalex.org/C2776914184","wikidata":"https://www.wikidata.org/wiki/Q101991","display_name":"Inflammation","level":2,"score":0.2538999915122986},{"id":"https://openalex.org/C2778674544","wikidata":"https://www.wikidata.org/wiki/Q1414805","display_name":"Systemic disease","level":3,"score":0.2535000145435333},{"id":"https://openalex.org/C180296930","wikidata":"https://www.wikidata.org/wiki/Q4926814","display_name":"Blisibimod","level":4,"score":0.2531999945640564}],"mesh":[],"locations_count":4,"locations":[{"id":"doi:10.1016/j.ard.2026.07.024","doi":"https://doi.org/10.1016/j.ard.2026.07.024","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.ard.2026.07.024","pdf_url":null,"source":{"id":"https://openalex.org/S25650217","display_name":"Annals of the Rheumatic Diseases","issn_l":"0003-4967","issn":["0003-4967","1468-2060"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of the Rheumatic Diseases","raw_type":"journal-article"},{"id":"pmid:42632785","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42632785","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of the rheumatic diseases","raw_type":"Journal Article"},{"id":"pmh:oai:HAL:hal-05757155v1","doi":null,"is_oa":false,"landing_page_url":"https://hal.science/hal-05757155","pdf_url":null,"source":{"id":"https://openalex.org/S4306402512","display_name":"HAL","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4405252976","host_organization_name":"Centre pour la Communication Scientifique Directe","host_organization_lineage":["https://openalex.org/I4405252976"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Annals of the Rheumatic Diseases, 2026, 12, pp.100363. &#x27E8;10.1016/j.ard.2026.07.024&#x27E9;","raw_type":"info:eu-repo/semantics/article"},{"id":"pmh:oai:iris.unil.ch:iris/284483","doi":null,"is_oa":false,"landing_page_url":"https://iris.unil.ch/handle/iris/284483","pdf_url":null,"source":{"id":"https://openalex.org/S7407055444","display_name":"IRIS","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"research article"}],"best_oa_location":{"id":"doi:10.1016/j.ard.2026.07.024","doi":"https://doi.org/10.1016/j.ard.2026.07.024","is_oa":true,"landing_page_url":"https://doi.org/10.1016/j.ard.2026.07.024","pdf_url":null,"source":{"id":"https://openalex.org/S25650217","display_name":"Annals of the Rheumatic Diseases","issn_l":"0003-4967","issn":["0003-4967","1468-2060"],"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core","dongbi-a","doyens","jufo-3","ki-jl-3","medline","norway-2","poland-200","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319945","host_organization_name":"BMJ","host_organization_lineage":["https://openalex.org/P4310319945"],"host_organization_lineage_names":["BMJ"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Annals of the Rheumatic Diseases","raw_type":"journal-article"},"sustainable_development_goals":[{"score":0.9907000064849854,"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3"}],"study_designs":[{"display_name":"Observational Study","id":"https://openalex.org/study-designs/observational-study"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320307776","display_name":"Merck","ror":"https://ror.org/02891sr49"},{"id":"https://openalex.org/F4320307778","display_name":"Novartis","ror":"https://ror.org/02f9zrr09"},{"id":"https://openalex.org/F4320330040","display_name":"LUPUS UK","ror":"https://ror.org/05dpwde09"},{"id":"https://openalex.org/F4320336780","display_name":"NIHR Great Ormond Street Hospital Biomedical Research Centre","ror":"https://ror.org/033rx1153"}],"has_content":{"pdf":false,"grobid_xml":false},"content_urls":null,"referenced_works_count":68,"referenced_works":["https://openalex.org/W1542158376","https://openalex.org/W1927838806","https://openalex.org/W1966892322","https://openalex.org/W1972799331","https://openalex.org/W1982027655","https://openalex.org/W2015183373","https://openalex.org/W2031168104","https://openalex.org/W2059696908","https://openalex.org/W2060264667","https://openalex.org/W2062267695","https://openalex.org/W2070527591","https://openalex.org/W2077897130","https://openalex.org/W2096137281","https://openalex.org/W2151777859","https://openalex.org/W2155139766","https://openalex.org/W2161208630","https://openalex.org/W2171907587","https://openalex.org/W2176745654","https://openalex.org/W2327581403","https://openalex.org/W2486559230","https://openalex.org/W2791656321","https://openalex.org/W2967130347","https://openalex.org/W2985348368","https://openalex.org/W2990115631","https://openalex.org/W2998830349","https://openalex.org/W3007628792","https://openalex.org/W3015162299","https://openalex.org/W3095828150","https://openalex.org/W3119569277","https://openalex.org/W3127703261","https://openalex.org/W3128006983","https://openalex.org/W3128968340","https://openalex.org/W3167019654","https://openalex.org/W3170360409","https://openalex.org/W3182446092","https://openalex.org/W3193375219","https://openalex.org/W3203834644","https://openalex.org/W3214026160","https://openalex.org/W4200569691","https://openalex.org/W4200571811","https://openalex.org/W4210667586","https://openalex.org/W4220811585","https://openalex.org/W4225095275","https://openalex.org/W4225299137","https://openalex.org/W4229454135","https://openalex.org/W4295234311","https://openalex.org/W4307340648","https://openalex.org/W4309163900","https://openalex.org/W4316363193","https://openalex.org/W4321482897","https://openalex.org/W4361982939","https://openalex.org/W4362663159","https://openalex.org/W4376891627","https://openalex.org/W4386158506","https://openalex.org/W4386470301","https://openalex.org/W4390734057","https://openalex.org/W4390734320","https://openalex.org/W4391613368","https://openalex.org/W4392907068","https://openalex.org/W4396977330","https://openalex.org/W4398256031","https://openalex.org/W4399670845","https://openalex.org/W4405284419","https://openalex.org/W4411260677","https://openalex.org/W4412522463","https://openalex.org/W7131233439","https://openalex.org/W7131274190","https://openalex.org/W7147263545"],"related_works":["https://openalex.org/W7156583253","https://openalex.org/W4411260677","https://openalex.org/W7131274190","https://openalex.org/W7123339545","https://openalex.org/W7165113598","https://openalex.org/W3133592510","https://openalex.org/W4399284150","https://openalex.org/W7212087426","https://openalex.org/W2153006199","https://openalex.org/W4416247817"],"abstract_inverted_index":{"OBJECTIVES:":[0],"The":[1,68,102],"X":[2],"chromosome-linked":[3],"Toll-like":[4],"receptor":[5],"(TLR)7":[6],"gene":[7,63],"contributes":[8],"to":[9,39],"type":[10],"I":[11],"interferon":[12],"(IFN)":[13],"expression":[14,143],"in":[15,23,44,65,83,139,157],"systemic":[16],"lupus":[17],"erythematosus":[18],"(SLE).":[19],"Recently,":[20],"ultra-rare":[21],"variants":[22,43],"TLR7":[24,41,72,119,182,212],"have":[25],"been":[26],"linked":[27],"with":[28,47,59,87,89,123,126,136,200,216,222],"Mendelian":[29],"forms":[30],"of":[31,96,169,177,181,228,239],"SLE.":[32],"METHODS:":[33],"Targeted":[34],"new-generation":[35],"sequencing":[36],"was":[37,81,104],"used":[38],"identify":[40],"coding":[42,73],"319":[45],"patients":[46],"juvenile-onset":[48],"(j)SLE":[49],"from":[50,161],"the":[51,116,127,162,170,178,191,195,201,209,226],"UK.":[52],"Functional":[53],"studies":[54],"investigated":[55],"molecular":[56,117],"impacts":[57],"associated":[58,122],"a":[60,78,84,93,186],"previoulsy":[61],"unreported":[62,70],"variant":[64,74,214],"TLR7.":[66],"RESULTS:":[67],"previously":[69],"private":[71,210],"p.Glu834*":[75,120,172,197,213],"(heterozygous),":[76],"introducing":[77],"stop":[79],"codon,":[80],"identified":[82],"female":[85],"patient":[86,103],"jSLE":[88],"multisystemic":[90],"disease":[91,230],"and":[92,99,107,111,133,183,185,232,237],"family":[94],"history":[95],"lupus-like":[97],"autoimmunity":[98],"premature":[100],"deaths.":[101],"born":[105],"preterm":[106],"exhibited":[108],"neurodevelopmental":[109],"delay":[110],"severe":[112],"neuropsychiatric":[113],"involvement.":[114],"On":[115],"level,":[118],"is":[121,174],"sustained":[124],"interaction":[125,189],"UNC93B1":[128],"chaperone,":[129],"allowing":[130],"endolysosomal":[131],"integration":[132],"noncanonical":[134],"dimerisation":[135],"TLR8,":[137,184],"resulting":[138],"enhanced":[140],"proinflammatory":[141],"cytokine":[142],"following":[144],"TLR7/8":[145],"engagement.":[146],"In":[147],"vitro":[148],"observations":[149],"were":[150],"mirrored":[151],"by":[152],"an":[153],"elevated":[154],"IFN":[155],"signature":[156],"peripheral":[158],"blood":[159],"cells":[160],"patient.":[163],"Molecular":[164],"modelling":[165],"indicated":[166],"that":[167,208],"formation":[168],"TLR8:TLR7":[171,196],"heterodimer":[173],"possible":[175],"because":[176],"shape":[179],"complementarity":[180],"more":[187],"favourable":[188],"at":[190],"dimer":[192],"interface":[193],"for":[194],"as":[198],"compared":[199],"endogenous":[202],"TLR8:TLR8":[203],"dimer.":[204],"CONCLUSIONS:":[205],"Observations":[206],"suggest":[207],"truncating":[211],"associates":[215],"SLE-like":[217],"clinical":[218],"pictures":[219],"through":[220],"coupling":[221],"TLR8.":[223],"Findings":[224],"expand":[225],"list":[227],"SLE-associated":[229],"mechanisms":[231],"support":[233],"genetic":[234],"risk":[235],"stratification":[236],"consideration":[238],"TLR":[240],"and/or":[241],"IFN-targeted":[242],"treatments.":[243]},"counts_by_year":[],"updated_date":"2026-11-07T11:25:07.637180","created_date":"2026-08-23T00:00:00"}
