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Hereditary pulmonary alveolar proteinosis as collateral damage from a large chromosomal deletion
Author(s) -
Schmidt Anne,
Kenia Priti,
Morgan Cliff,
Bush Andrew
Publication year - 2021
Publication title -
pediatric pulmonology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.866
H-Index - 106
eISSN - 1099-0496
pISSN - 8755-6863
DOI - 10.1002/ppul.25336
Subject(s) - medicine , pulmonary alveolar proteinosis , chromosomal deletion , pathology , collateral damage , short stature , interstitial lung disease , gene , lung , genetics , phenotype , biology , criminology , sociology
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.