{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T08:41:38Z","timestamp":1761986498856},"reference-count":5,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2016,11,22]],"date-time":"2016-11-22T00:00:00Z","timestamp":1479772800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"name":"None reported"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatric Pulmonology"],"published-print":{"date-parts":[[2017,2]]},"abstract":"<jats:title>Summary<\/jats:title><jats:sec><jats:label \/><jats:p>CHARGE (coloboma, heart defect, atresia choanae, retarded growth and development, genital hypoplasia, and ear anomalies\/deafness) syndrome is a rare genetic disorder caused by <jats:italic>CHD7<\/jats:italic> mutation and is related to immunodeficiency. A 6\u2010month\u2010old girl with right lung agenesis, congenital heart defects, and ear anomalies developed repeated and serious respiratory infection for a short period. She was clinically diagnosed with typical CHARGE syndrome with severe combined immunodeficiency (T\u2212, B+, NK\u2212); however, <jats:italic>CHD7<\/jats:italic> mutation was not detected. Disseminated BCG infection did not resolve despite administration of anti\u2010tuberculosis drugs and intravenous immune globulins, and she subsequently died of acute respiratory distress syndrome. <jats:bold>Pediatr Pulmonol. 2017;52:E4\u2013E6.<\/jats:bold> \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ppul.23533","type":"journal-article","created":{"date-parts":[[2016,11,22]],"date-time":"2016-11-22T16:56:28Z","timestamp":1479833788000},"source":"Crossref","is-referenced-by-count":7,"title":["Disseminated BCG pneumonitis revealing severe combined immunodeficiencyxs in CHARGE syndrome"],"prefix":"10.1002","volume":"52","author":[{"given":"Hyung Young","family":"Kim","sequence":"first","affiliation":[{"name":"Department of Pediatrics Pusan National University Yangsan Hospital Yangsan Gyeongsangnam\u2010do Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoo\u2010Mi","family":"Kim","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Pusan National University Yangsan Hospital Yangsan Gyeongsangnam\u2010do Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hee Ju","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Pusan National University Yangsan Hospital Yangsan Gyeongsangnam\u2010do Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,11,22]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1407"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2249.2008.03681.x"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1177\/000992289803700302"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37435"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2007.05.002"}],"container-title":["Pediatric Pulmonology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fppul.23533","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ppul.23533","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,4]],"date-time":"2023-10-04T23:08:42Z","timestamp":1696460922000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ppul.23533"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016,11,22]]},"references-count":5,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2017,2]]}},"alternative-id":["10.1002\/ppul.23533"],"URL":"https:\/\/doi.org\/10.1002\/ppul.23533","archive":["Portico"],"relation":{},"ISSN":["8755-6863","1099-0496"],"issn-type":[{"value":"8755-6863","type":"print"},{"value":"1099-0496","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,11,22]]}}}