Adult-onset hereditary pulmonary alveolar proteinosis caused by a single-base deletion in <i>CSF2RB</i>

Abstract

This is the first report identifying a genetic defect in CSF2RB that causes deficiency of GM-CSF-Rβc expression and impaired signalling downstream. These results suggested that GM-CSF signalling was compensated by other signalling pathways, leading to adult-onset PAP.