Danny Jonigk

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,...