Open access
Aug 2026
A Novel Dominantly Segregating PSMB10 Splice-Site Variant in Familial Autoinflammatory Disease with Immunoproteasome and Interferon-Related Dysregulation
Background: Systemic autoinflammatory phenotypes can clinically overlap with Familial Mediterranean Fever and other monogenic autoinflammatory diseases, yet some cases remain unclassified in the absence of pathogenic variants in MEFV or other related genes. In this study, we aimed to investigate the genetic and molecul...
U. I. Onat, Alper Bülbül, Dora Sigli et al.
· Genes · 0 citations