{ "abstract": "Objectives\n\nWith advances in genetic testing, monogenic lupus is increasingly recognized, yet disease-specific classification criteria are lacking. We compared all three classification criteria sets in the same monogenic lupus cohort and, for the first time, evaluated their performance across distinct genetic pathways.Methods\n\nThis national multicentre study included 88 genetically confirmed monogenic lupus patients from 22 paediatric rheumatology centres across Türkiye. Fulfilment of the AmericanCollege of Rheumatology (ACR)-1997, Systemic Lupus International Collaborating Clinics (SLICC)-2012 and European League Against Rheumatism (EULAR)/ACR-2019 criteria and pathway-based differences in classification performance were assessed.Results\n\nOverall, 74% (n = 65) fulfilled ACR-1997, 70.5% (n = 62) SLICC-2012 and EULAR/ACR-2019 criteria, and 62.5% (n = 55) met all three, whereas 17% (n = 15) met none. Agreement was substantial (κ = 0.63-0.73), with no significant differences between criteria (P > 0.05). Classification performance differed significantly across genetic pathways (P < 0.05), with the highest fulfilment performances in complement deficiencies and the lowest in nucleic acid metabolism and type I interferon pathway defects. Most patients who did not fulfil any classification criteria had nucleic acid metabolism and clearance defects (13/15, 86.7%). Domain-level analyses showed that classification success was mainly driven by mucocutaneous, immunologic and renal domains. Complement and immune-regulation defects showed a more classical lupus phenotype, with most fulfilling all three criteria (78.6%, 22/28 and 77.8%, 14/18), whereas the proportion was lower in type I interferon pathway and nucleic acid metabolism and clearance defects (33.3%, 2/6 and 47.2%, 17/36). No classification criteria were superior within genetic pathways.Conclusion\n\nOne-third of genetically confirmed monogenic lupus patients remained unclassified, particularly those with interferon-related and nucleic acid metabolism defects, highlighting pathway-dependent limitations of current classification criteria.", "abstract_shown": true, "affiliations": [ "Department of Paediatric Rheumatology, Istanbul University-Cerrahpasa, Cerrahpasa Faculty of Medicine, Istanbul, Türkiye.", "Department of Paediatric Rheumatology, Umraniye Training and Research Hospital, University of Health Sciences, Istanbul, Türkiye.", "Department of Paediatric Rheumatology, Cukurova University Faculty of Medicine, Adana, Türkiye.", "Department of Paediatric Rheumatology, Erciyes University Faculty of Medicine, Kayseri, Türkiye.", "Department of Paediatric Rheumatology, University of Health Sciences, Ankara Bilkent City Hospital, Ankara, Türkiye.", "Department of Paediatric Rheumatology, University of Health Sciences, Etlik City Hospital, Ankara, Türkiye.", "Department of Paediatric Rheumatology, Istanbul University Faculty of Medicine, Istanbul, Türkiye.", "Department of Paediatric Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Türkiye.", "Department of Paediatric Rheumatology, Istanbul Medeniyet University Faculty of Medicine, Istanbul, Türkiye.", "Department of Paediatric Immunology and Rheumatology, Uludag University Faculty of Medicine, Bursa, Türkiye.", "Department of Paediatric Rheumatology, Dokuz Eylul University Faculty of Medicine, Izmir, Türkiye.", "Department of Paediatric Rheumatology, Diyarbakır Children's Hospital, Diyarbakır, Türkiye.", "Department of Paediatric Rheumatology, Karadeniz Technical University Faculty of Medicine, Trabzon, Türkiye.", "Department of Paediatric Rheumatology, Antalya Training and Research Hospital, Antalya, Türkiye.", "Department of Paediatric Rheumatology, Adana City Training and Research Hospital, Adana, Türkiye.", "Department of Paediatric Rheumatology, Gazi University Faculty of Medicine, Ankara, Türkiye.", "Department of Paediatric Rheumatology, Mardin Training and Research Hospital, Mardin, Türkiye.", "Department of Paediatric Rheumatology, Gazi Yasargil Training and Research Hospital, Diyarbakır, Türkiye.", "Department of Paediatric Rheumatology, Fırat University Faculty of Medicine, Elazığ, Türkiye.", "Department of Paediatric Rheumatology, Samsun Training and Research Hospital, Samsun, Türkiye.", "Department of Paediatric Rheumatology, Gaziantep University Faculty of Medicine, Gaziantep, Türkiye.", "Department of Paediatric Rheumatology, Marmara University Faculty of Medicine, Istanbul, Türkiye.", "Department of Paediatric Rheumatology, Dicle University Faculty of Medicine, Diyarbakır, Türkiye." ], "article_type": "research article", "arxiv": null, "author_total": 44, "authors": [ { "affs": [ 0 ], "name": "Nergis Akay", "orcid": "0000-0001-6102-4055" }, { "affs": [ 0 ], "name": "Sezgin Sahin", "orcid": "0000-0002-5365-3457" }, { "affs": [ 1 ], "name": "Sila Atamyildiz Ucar", "orcid": "0000-0002-4283-0921" }, { "affs": [ 2 ], "name": "Aybuke Alisan", "orcid": "0009-0001-8264-9633" }, { "affs": [ 1 ], "name": "Eray Tunce", "orcid": "0000-0002-4801-6605" }, { "affs": [ 3 ], "name": "Eda Kayhan", "orcid": "0000-0002-0064-870X" }, { "affs": [ 4 ], "name": "Yasemin Ugur Es", "orcid": "0000-0002-3691-8708" }, { "affs": [ 5 ], "name": "Aysenur Alkaya", "orcid": "0000-0002-0093-6058" }, { "affs": [ 6 ], "name": "Busra Baser Taskin", "orcid": "0009-0003-5097-4479" }, { "affs": [ 7 ], "name": "Dilara Unal", "orcid": "0000-0002-3043-792X" }, { "affs": [ 8 ], "name": "Lutfiye Koru", "orcid": "0000-0002-0358-8204" }, { "affs": [ 9 ], "name": "Hatice Kubra Zora", "orcid": "0000-0001-8178-8386" }, { "affs": [ 10 ], "name": "Aslihan Uzun Bektas", "orcid": "0000-0003-1097-2228" }, { "affs": [ 11 ], "name": "Melisa Kacmaz", "orcid": "0009-0008-7551-0570" }, { "affs": [ 12 ], "name": "Halil Kazanasmaz", "orcid": "0000-0003-4671-4028" }, { "affs": [ 13 ], "name": "Sengul Caglayan", "orcid": "0000-0003-3014-5692" }, { "affs": [ 14 ], "name": "Seher Sener", "orcid": "0000-0003-1564-8996" }, { "affs": [ 15 ], "name": "Busra Acun", "orcid": "0000-0001-6092-5361" }, { "affs": [ 16 ], "name": "Gulcan Ozomay Baykal", "orcid": "0000-0003-3427-1418" }, { "affs": [ 17 ], "name": "Yasemin Yigit Demir", "orcid": "0000-0002-6426-8490" }, { "affs": [ 18 ], "name": "Suleyman Ekrem Albayrak", "orcid": "0009-0002-2874-2279" }, { "affs": [ 19 ], "name": "Burcu Bozkaya", "orcid": "0000-0001-8095-2017" }, { "affs": [ 20 ], "name": "Orhan Nurlu", "orcid": "0009-0007-2793-4443" }, { "affs": [ 0 ], "name": "Mehmet Yildiz", "orcid": "0000-0002-7834-4909" }, { "affs": [ 0 ], "name": "Amra Adrovic", "orcid": "0000-0002-2400-6955" }, { "affs": [ 0 ], "name": "Kenan Barut", "orcid": "0000-0001-8459-2872" }, { "affs": [ 15 ], "name": "Sevcan A Bakkaloglu", "orcid": "0000-0001-6530-9672" }, { "affs": [ 18 ], "name": "Metin Kaya Gurgoze", "orcid": "0000-0003-0645-8170" }, { "affs": [ 20 ], "name": "Ayse Balat", "orcid": "0000-0002-8904-1348" }, { "affs": [ 8 ], "name": "Fatih Haslak", "orcid": "0000-0002-6963-9668" }, { "affs": [ 10 ], "name": "Balahan Bora", "orcid": "0000-0001-6193-0402" }, { "affs": [ 9 ], "name": "Sara Sebnem Kilic", "orcid": "0000-0001-8571-2581" }, { "affs": [ 12 ], "name": "Mukaddes Kalyoncu", "orcid": "0000-0001-5378-939X" }, { "affs": [ 21 ], "name": "Oya Koker", "orcid": "0000-0002-0101-9585" }, { "affs": [ 19 ], "name": "Semanur Elmas", "orcid": "0000-0001-5602-4595" }, { "affs": [ 6 ], "name": "Nuray Aktay Ayaz", "orcid": "0000-0003-3594-7387" }, { "affs": [ 7 ], "name": "Seza Ozen", "orcid": "0000-0003-2883-7868" }, { "affs": [ 4 ], "name": "Banu Celikel Acar", "orcid": "0000-0002-1808-3655" }, { "affs": [ 3 ], "name": "Sumeyra Ozdemir Cicek", "orcid": "0000-0002-3290-4413" }, { "affs": [ 22 ], "name": "Sibel Balci", "orcid": "0000-0003-0099-313X" }, { "affs": [ 3 ], "name": "Aysenur Pac Kisaarslan", "orcid": "0000-0002-1800-9922" }, { "affs": [ 2 ], "name": "Rabia Miray Kisla Ekinci", "orcid": "0000-0001-6234-822X" }, { "affs": [ 1 ], "name": "Betul Sozeri", "orcid": "0000-0002-5079-5644" }, { "affs": [ 0 ], "name": "Ozgur Kasapcopur", "orcid": "0000-0002-1125-7720" } ], "bibtex": "https://research.draconitic.com/paper/baxh0nf0j3emp.bib", "cited_by": 0, "doi": "10.1093/rheumatology/keag532", "fulltext_url": "https://europepmc.org/articles/PMC13675084", "id": "baxh0nf0j3emp", "issns": [ "1462-0324", "1462-0332" ], "landing_url": "https://europepmc.org/article/MED/42834437", "language": "eng", "licence": "CC-BY", "licence_label": "CC BY", "licence_source": "article", "licence_url": "https://creativecommons.org/licenses/by/4.0/", "metadata_licence": null, "native_subjects": [ [ "openalex", "2745|Systemic Lupus Erythematosus Research" ] ], "openalex": "W7220411219", "pdf_url": "https://europepmc.org/articles/PMC13675084?pdf=render", "pmcid": "PMC13675084", "pmid": "42834437", "published": "2026-10-01", "publisher": null, "ris": "https://research.draconitic.com/paper/baxh0nf0j3emp.ris", "sources": [ { "first_seen": "2026-10-30T12:18:10Z", "native_id": "MED:42834437", "source": "europepmc", "url": "https://europepmc.org/article/MED/42834437" } ], "subjects": [ { "field": "medicine", "origin": "openalex:2745|Systemic Lupus Erythematosus Research", "subfield": "general" } ], "title": "Performance of lupus classification criteria in monogenic lupus: a national multicentre cohort study.", "title_text": "Performance of lupus classification criteria in monogenic lupus: a national multicentre cohort study.", "type": "peer-reviewed", "updated_at": "2026-10-30T12:18:10Z", "url": "https://research.draconitic.com/paper/baxh0nf0j3emp", "venue": "Rheumatology (Oxford, England)", "versions": [] }