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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.
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.
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.
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