Performance of lupus classification criteria in monogenic lupus: a national multicentre cohort study.

@article{akay2026performance,
  title = {{Performance of lupus classification criteria in monogenic lupus: a national multicentre cohort study.}},
  author = {Nergis Akay and Sezgin Sahin and Sila Atamyildiz Ucar and Aybuke Alisan and Eray Tunce and Eda Kayhan and Yasemin Ugur Es and Aysenur Alkaya and Busra Baser Taskin and Dilara Unal and Lutfiye Koru and Hatice Kubra Zora and Aslihan Uzun Bektas and Melisa Kacmaz and Halil Kazanasmaz and Sengul Caglayan and Seher Sener and Busra Acun and Gulcan Ozomay Baykal and Yasemin Yigit Demir and Suleyman Ekrem Albayrak and Burcu Bozkaya and Orhan Nurlu and Mehmet Yildiz and Amra Adrovic and Kenan Barut and Sevcan A Bakkaloglu and Metin Kaya Gurgoze and Ayse Balat and Fatih Haslak and Balahan Bora and Sara Sebnem Kilic and Mukaddes Kalyoncu and Oya Koker and Semanur Elmas and Nuray Aktay Ayaz and Seza Ozen and Banu Celikel Acar and Sumeyra Ozdemir Cicek and Sibel Balci and Aysenur Pac Kisaarslan and Rabia Miray Kisla Ekinci and Betul Sozeri and Ozgur Kasapcopur},
  journal = {Rheumatology (Oxford, England)},
  year = {2026},
  month = oct,
  doi = {10.1093/rheumatology/keag532},
  url = {https://europepmc.org/article/MED/42834437},
  note = {CC BY},
}

TY  - JOUR
TI  - Performance of lupus classification criteria in monogenic lupus: a national multicentre cohort study.
AU  - Nergis Akay
AU  - Sezgin Sahin
AU  - Sila Atamyildiz Ucar
AU  - Aybuke Alisan
AU  - Eray Tunce
AU  - Eda Kayhan
AU  - Yasemin Ugur Es
AU  - Aysenur Alkaya
AU  - Busra Baser Taskin
AU  - Dilara Unal
AU  - Lutfiye Koru
AU  - Hatice Kubra Zora
AU  - Aslihan Uzun Bektas
AU  - Melisa Kacmaz
AU  - Halil Kazanasmaz
AU  - Sengul Caglayan
AU  - Seher Sener
AU  - Busra Acun
AU  - Gulcan Ozomay Baykal
AU  - Yasemin Yigit Demir
AU  - Suleyman Ekrem Albayrak
AU  - Burcu Bozkaya
AU  - Orhan Nurlu
AU  - Mehmet Yildiz
AU  - Amra Adrovic
AU  - Kenan Barut
AU  - Sevcan A Bakkaloglu
AU  - Metin Kaya Gurgoze
AU  - Ayse Balat
AU  - Fatih Haslak
AU  - Balahan Bora
AU  - Sara Sebnem Kilic
AU  - Mukaddes Kalyoncu
AU  - Oya Koker
AU  - Semanur Elmas
AU  - Nuray Aktay Ayaz
AU  - Seza Ozen
AU  - Banu Celikel Acar
AU  - Sumeyra Ozdemir Cicek
AU  - Sibel Balci
AU  - Aysenur Pac Kisaarslan
AU  - Rabia Miray Kisla Ekinci
AU  - Betul Sozeri
AU  - Ozgur Kasapcopur
PY  - 2026
DA  - 2026/10/01
JO  - Rheumatology (Oxford, England)
DO  - 10.1093/rheumatology/keag532
UR  - https://europepmc.org/article/MED/42834437
AB  - Objectives  With 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  This 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  Overall, 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  One-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.
SN  - 1462-0324
SN  - 1462-0332
ER  -