Author

N. Schwerk

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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

#edge computing Open access Oct 2026

Pleuroparenchymal fibroelastosis in a monogenic mitochondrial DNA depletion syndrome.

BACKGROUND Pleuroparenchymal fibroelastosis (PPFE) is a rare, most often idiopathic fibrotic lung disease with poor prognosis, mainly affecting adults. Biallelic pathogenic variants in the deoxyguanosine kinase gene (DGUOK) cause a mitochondrial DNA (mtDNA) depletion syndrome, predominantly affecting infants with sever...

S. von Hardenberg, Pia Maier, Leonard Christian et al. · European Respiratory Journal · 0 citations