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- Title
Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRalpha gene in the X chromosome pseudoautosomal region 1.
- Authors
Martinez-Moczygemba, Margarita; Doan, Minh L; Elidemir, Okan; Fan, Leland L; Cheung, Sau Wai; Lei, Jonathan T; Moore, James P; Tavana, Ghamartaj; Lewis, Lora R; Zhu, Yiming; Muzny, Donna M; Gibbs, Richard A; Huston, David P
- Abstract
Pulmonary alveolar proteinosis (PAP) is a rare lung disorder in which surfactant-derived lipoproteins accumulate excessively within pulmonary alveoli, causing severe respiratory distress. The importance of granulocyte/macrophage colony-stimulating factor (GM-CSF) in the pathogenesis of PAP has been confirmed in humans and mice, wherein GM-CSF signaling is required for pulmonary alveolar macrophage catabolism of surfactant. PAP is caused by disruption of GM-CSF signaling in these cells, and is usually caused by neutralizing autoantibodies to GM-CSF or is secondary to other underlying diseases. Rarely, genetic defects in surfactant proteins or the common beta chain for the GM-CSF receptor (GM-CSFR) are causal. Using a combination of cellular, molecular, and genomic approaches, we provide the first evidence that PAP can result from a genetic deficiency of the GM-CSFR alpha chain, encoded in the X-chromosome pseudoautosomal region 1.
- Publication
The Journal of experimental medicine, 2008, Vol 205, Issue 12, p2711
- ISSN
1540-9538
- Publication type
Journal Article
- DOI
10.1084/jem.20080759