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CSF2RB mutation-related hereditary pulmonary alveolar proteinosis: the "long and winding road" into adulthood.

Spyros A PapirisCamille LouvrierAurelie FabreLoukas KaklamanisIraklis TsangarisFrantzeska G FrantzeskakiIlias E DimeasMarie-Pierre DebrayFoteini KarakontakiMaria KallieriLykourgos KolilekasZoe DaniilAlexandra GiatromanolakiCaroline KannengiesserRaphael BorieNadia NathanMatthias GrieseEffrosyni D Manali
Published in: ERJ open research (2023)
Genetic analysis pre-lung transplantation diagnosed a case of hereditary pulmonary alveolar proteinosis (PAP) complicated by fibrosis in adulthood. The need for genetic testing in GM-CSF autoantibody negative and unclassifiable PAP is highlighted. https://bit.ly/3QcsYwM.
Keyphrases
  • pulmonary hypertension
  • depressive symptoms
  • early life
  • extracorporeal membrane oxygenation
  • cerebrospinal fluid