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