{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,8]],"date-time":"2026-10-08T23:55:17Z","timestamp":1791503717367,"version":"4.3.4"},"reference-count":29,"publisher":"Rockefeller University Press","issue":"12","content-domain":{"domain":["rupress.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2008,11,24]]},"abstract":"<jats:p>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 \u03b2 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 \u03b1 chain, encoded in the X-chromosome pseudoautosomal region 1.<\/jats:p>","DOI":"10.1084\/jem.20080759","type":"journal-article","created":{"date-parts":[[2008,10,28]],"date-time":"2008-10-28T00:34:28Z","timestamp":1225154068000},"page":"2711-2716","update-policy":"https:\/\/doi.org\/10.1084\/jem.crossmarkpolicy","source":"Crossref","is-referenced-by-count":176,"title":["Pulmonary alveolar proteinosis caused by deletion of the GM-CSFR\u03b1 gene in the X chromosome pseudoautosomal region 1"],"prefix":"10.1084","volume":"205","author":[{"given":"Margarita","family":"Martinez-Moczygemba","sequence":"first","affiliation":[{"name":"1Department of Medicine and"},{"name":"2Department of Microbial and Molecular Pathogenesis, Texas A&M College of Medicine, and"},{"name":"3Clinical Science and Translational Research Institute, Texas A&M Health Science Center, Houston, TX 77030"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minh L.","family":"Doan","sequence":"additional","affiliation":[{"name":"4Department of Pediatrics,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Okan","family":"Elidemir","sequence":"additional","affiliation":[{"name":"4Department of Pediatrics,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Leland L.","family":"Fan","sequence":"additional","affiliation":[{"name":"4Department of Pediatrics,"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sau Wai","family":"Cheung","sequence":"additional","affiliation":[{"name":"5Department of Molecular and Human Genetics, and"},{"name":"6Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan T.","family":"Lei","sequence":"additional","affiliation":[{"name":"3Clinical Science and Translational Research Institute, Texas A&M Health Science Center, Houston, TX 77030"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James P.","family":"Moore","sequence":"additional","affiliation":[{"name":"3Clinical Science and Translational Research Institute, Texas A&M Health Science Center, Houston, TX 77030"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ghamartaj","family":"Tavana","sequence":"additional","affiliation":[{"name":"3Clinical Science and Translational Research Institute, Texas A&M Health Science Center, Houston, TX 77030"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lora R.","family":"Lewis","sequence":"additional","affiliation":[{"name":"6Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yiming","family":"Zhu","sequence":"additional","affiliation":[{"name":"6Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Donna M.","family":"Muzny","sequence":"additional","affiliation":[{"name":"6Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard A.","family":"Gibbs","sequence":"additional","affiliation":[{"name":"5Department of Molecular and Human Genetics, and"},{"name":"6Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David P.","family":"Huston","sequence":"additional","affiliation":[{"name":"1Department of Medicine and"},{"name":"2Department of Microbial and Molecular Pathogenesis, Texas A&M College of Medicine, and"},{"name":"3Clinical Science and Translational Research Institute, Texas A&M Health Science Center, Houston, TX 77030"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"291","published-online":{"date-parts":[[2008,10,27]]},"reference":[{"key":"2023072916422735500_BIB1","doi-asserted-by":"crossref","first-page":"2527","DOI":"10.1056\/NEJMra023226","volume":"349","year":"2003","journal-title":"N. 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