Interstitial lung disease in children with aminoacyl-tRNA synthetase (ARSs) deficiencies

Background Genetic variants in genes encoding aminoacyl-tRNA synthetase (ARSs) are associated to multisystemic diseases, mostly with neurological involvement. Recently, more and more ARS-deficiencies with prominent pulmonary involvement were identified. Patients with bi-allelic variants in FARSA,FARSB, and MARS1 demonstrated early pulmonary symptoms, and cholesterol pneumonitis or pulmonary alveolar proteinosis in lung histology.