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Author

A. Kısaarslan

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Open access Oct 2026

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

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....

Nergis Akay, S. Şahin, S. A. Uçar et al. · 0 citations
Case report Sep 2026

Clinical and immunological characterization of a child with a homozygous TBK1 kinase-domain truncation

The functional consequences of a TBK1-variant bearing a truncation in exon 4 and 5 in a patient with poly arthritis resembling juvenile idiopathic arthritis and necrotizing encephalitis are characterized and may provide insight into the management of immune dysregulation in affected patients.

Büşra Şeniz Demir, S. Çiçek, M. Houran et al. · 0 citations
Case report Aug 2026

A novel FLNA p.Pro2469Ser variant is associated with impaired T and NK cell function and immune dysregulation

Findings indicate that the FLNA p.Pro2469Ser variant identified in a pediatric patient presenting with recurrent infections and inflammatory manifestations is associated with altered immune-cell signaling, disturbed cortical cytoskeletal organization, and immune dysregulation.

Ş. Erdem, A. Kısaarslan, M. B. Acar et al. · 0 citations

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