Open access
Oct 2026
Dominant lung involvement and heterozygous IFIH1 variants.
BACKGROUND Heterozygous gain-of-function (GoF) variants in IFIH1 are associated with rare autoinflammatory diseases characterized by heightened interferons-stimulated gene (ISG) signatures. These include Aicardi-Goutières syndrome, presenting with slowly progressive spastic paraparesis of the lower limbs, intracerebral...
Christina K. Rapp, M. Herkner, Victoria S. E. Crippa et al.
· Chest · 0 citations