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Article

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

12 Nov 2010

Abstract excerpt

BACKGROUND: Disruption of granulocyte/macrophage colony-stimulating factor (GM-CSF) signalling causes pulmonary alveolar proteinosis (PAP). Rarely, genetic defects in neonatal or infant-onset PAP have been identified in CSF2RA. However, no report has clearly identified any function-associated genetic defect in CSF2RB. METHODS AND RESULTS: The patient was diagnosed with PAP at the age of 36 and developed...

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PMID: 21075760
DOI: 10.1136/jmg.2010.082586

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