{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,28]],"date-time":"2026-01-28T12:25:42Z","timestamp":1769603142159,"version":"3.49.0"},"reference-count":7,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2021,3,8]],"date-time":"2021-03-08T00:00:00Z","timestamp":1615161600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Pulmonology"],"published-print":{"date-parts":[[2021,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>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\u2010ray. 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\u2010stimulating factor\u20102\u2010receptor alpha subunit (CSF2RA) gene. In this patient, the Xp22.33 deletion affected 8 genes, including CSF2RA, leading to GM\u2010CSF receptor dysfunction and hereditary PAP. This is the first report of childhood interstitial lung disease (chILD) as collateral damage from a large chromosomal deletion.<\/jats:p>","DOI":"10.1002\/ppul.25336","type":"journal-article","created":{"date-parts":[[2021,2,25]],"date-time":"2021-02-25T10:02:41Z","timestamp":1614247361000},"page":"1687-1689","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Hereditary pulmonary alveolar proteinosis as collateral damage from a large chromosomal deletion"],"prefix":"10.1002","volume":"56","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4562-4207","authenticated-orcid":false,"given":"Anne","family":"Schmidt","sequence":"first","affiliation":[{"name":"Department of Pediatric Respiratory Medicine Royal Brompton Hospital London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Priti","family":"Kenia","sequence":"additional","affiliation":[{"name":"Department of Pediatric Respiratory Medicine Birmingham Women's and Children's Hospital Birmingham UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cliff","family":"Morgan","sequence":"additional","affiliation":[{"name":"Department of Anaesthesia Royal Brompton Hospital London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrew","family":"Bush","sequence":"additional","affiliation":[{"name":"Department of Pediatric Respiratory Medicine Royal Brompton Hospital London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2021,3,8]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2017-0610"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1183\/20734735.0001-2020"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0198-70"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-014-0171-z"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.rmed.2012.07.005"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbrc.2010.02.056"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1084\/jem.20080759"}],"container-title":["Pediatric Pulmonology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ppul.25336","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ppul.25336","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ppul.25336","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,2]],"date-time":"2023-09-02T00:52:12Z","timestamp":1693615932000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ppul.25336"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,3,8]]},"references-count":7,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2021,6]]}},"alternative-id":["10.1002\/ppul.25336"],"URL":"https:\/\/doi.org\/10.1002\/ppul.25336","archive":["Portico"],"relation":{},"ISSN":["8755-6863","1099-0496"],"issn-type":[{"value":"8755-6863","type":"print"},{"value":"1099-0496","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,3,8]]},"assertion":[{"value":"2020-08-03","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-02-16","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-03-08","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}