{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T01:12:12Z","timestamp":1777425132804,"version":"3.51.4"},"reference-count":13,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2022,11,15]],"date-time":"2022-11-15T00:00:00Z","timestamp":1668470400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81600002"],"award-info":[{"award-number":["81600002"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Pulmonology"],"published-print":{"date-parts":[[2023,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>This report describes a case of an 11\u2010year\u2010old Chinese boy with cystic fibrosis (CF) bearing the c.1521_1523delCTT\/c.3874\u20104522A&gt;G genotype, an extremely rare CF genotype in the Chinese population. Notably, the deep intron mutation c.3874\u20104522A&gt;G, which has mainly been reported in patients with phenotypically mild CF, is identified here for the first time in a Chinese patient with severe CF. In the case discussed here, the c.3874\u20104522A&gt;G mutation was associated with severe pulmonary disease with early symptoms onset, progressive bronchiectasis, recurrent airway infection with both <jats:italic>Pseudomonas aeruginosa<\/jats:italic> and methicillin\u2010resistant <jats:italic>Staphylococcus aureus<\/jats:italic>, rapid decline of lung function and poor weight gain. Despite intensive hospital\u2010based pulmonary care and optimized therapy, the child died of cardiopulmonary failure 3 months after discharge.<\/jats:p>","DOI":"10.1002\/ppul.26236","type":"journal-article","created":{"date-parts":[[2022,11,9]],"date-time":"2022-11-09T09:55:43Z","timestamp":1667987743000},"page":"556-558","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Case report of a pediatric Chinese cystic fibrosis patient with the c.1521_1523delCTT\/c.3874\u20104522A&gt;G genotype"],"prefix":"10.1002","volume":"58","author":[{"given":"Yanyan","family":"Su","sequence":"first","affiliation":[{"name":"Respiratory Departement, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital Zhengzhou children's Hospital Zhengzhou Henan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu","family":"Tang","sequence":"additional","affiliation":[{"name":"Respiratory Departement, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital Zhengzhou children's Hospital Zhengzhou Henan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Xiaolei","family":"Tang","sequence":"additional","affiliation":[{"name":"Department II of Respiratory Medicine, National Clinical Research Center for Respiratory Diseases, Beijing Children's Hospital, Capital Medical University National Center for Children's Health Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuelin","family":"Shen","sequence":"additional","affiliation":[{"name":"Department II of Respiratory Medicine, National Clinical Research Center for Respiratory Diseases, Beijing Children's Hospital, Capital Medical University National Center for Children's Health Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2022,11,15]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(20)32542-3"},{"key":"e_1_2_8_3_1","unstructured":"Cystic Fibrosis Mutation Database.http:\/\/www.genet.sickkids.on.ca\/cftr\/StatisticsPage.html. 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