The Journal of Experimental Medicine
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Published online
doi:10.1084/jem.20080759
The Journal of Experimental Medicine, Vol. 205, No. 12, 2711-2716
The Rockefeller University Press, 0022-1007 $30.00
© Martinez-Moczygemba et al.
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BRIEF DEFINITIVE REPORT

 Pulmonary alveolar proteinosis caused by deletion of the GM-CSFR{alpha} gene in the X chromosome pseudoautosomal region 1

Margarita Martinez-Moczygemba1,2,3, Minh L. Doan4, Okan Elidemir4, Leland L. Fan4, Sau Wai Cheung5,6, Jonathan T. Lei3, James P. Moore3, Ghamartaj Tavana3, Lora R. Lewis6, Yiming Zhu6, Donna M. Muzny6, Richard A. Gibbs5,6, and David P. Huston1,2,3

1 Department of Medicine and 2 Department of Microbial and Molecular Pathogenesis, Texas A&M College of Medicine, and 3 Clinical Science and Translational Research Institute, Texas A&M Health Science Center, Houston, TX 77030
4 Department of Pediatrics, 5 Department of Molecular and Human Genetics, and 6 Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030

CORRESPONDENCE David P. Huston: dhuston{at}medicine.tamhsc.edu

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 β 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.

© 2008 Martinez-Moczygemba et al. This article is distributed under the terms of an Attribution–Noncommercial–Share Alike–No Mirror Sites license for the first six months after the publication date (see http://www.jem.org/misc/terms.shtml). After six months it is available under a Creative Commons License (Attribution–Noncommercial–Share Alike 3.0 Unported license, as described at http://creativecommons.org/licenses/by-nc-sa/3.0/).


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