Author

Eda Tahir Turanlı

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Open access Aug 2026

A Novel Dominantly Segregating PSMB10 Splice-Site Variant in Familial Autoinflammatory Disease with Immunoproteasome and Interferon-Related Dysregulation

The intrafamilial variability observed in this family suggests that additional genetic or immunogenetic factors may modify disease expression, even in autoinflammatory disorders that appear to follow a monogenic inheritance pattern.

U. I. Onat, Alper Bülbül, Dora Sigli et al. · Genes · 0 citations