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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 Griese
Published 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.
Keyphrases
  • early onset
  • pulmonary hypertension
  • case report
  • acute myeloid leukemia
  • locally advanced
  • squamous cell carcinoma
  • radiation therapy
  • rectal cancer