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 ManaliPublished 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.