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.
· Immunologic research · 0 citations