Hereditary pulmonary alveolar proteinosis as collateral damage from a large chromosomal deletion.

Abstract

A girl with a known chromosomal deletion at Xp22.33, learning difficulties and short stature presented with dyspnea and dry cough and an abnormal chest X-ray. Computed tomography was typical for pulmonary alveolar proteinosis (PAP), and the diagnosis was confirmed invasively. More detailed genetic analysis detected a homozygous deletion of the colony-stimulating factor-2-receptor alpha subunit (CSF2RA) gene. In this patient, the Xp22.33 deletion affected 8 genes, including CSF2RA, leading to GM-CSF receptor dysfunction and hereditary PAP. This is the first report of childhood interstitial lung disease (chILD) as collateral damage from a large chromosomal deletion.