Pulmonary alveolar proteinosis due to heterozygous mutation in OAS1: Whole lung lavages for long-term bridging to hematopoietic stem cell transplantation.
Elias SeidlDirk SchrammCarola SchönKarl ReiterIngo PawlitaMatthias KapplerSimone Reu-HoferFabian H HauckMichael H AlbertMatthias GriesePublished in: Pediatric pulmonology (2021)
Here, we describe the successful management of a female patient with severe PAP caused by a heterozygous OAS1 gain-of-function variant until a definitive diagnosis was made and cured by HSCT.