{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,27]],"date-time":"2025-09-27T00:10:47Z","timestamp":1758931847570,"version":"3.44.0"},"reference-count":10,"publisher":"S. Karger AG","issue":"9","license":[{"start":{"date-parts":[[2025,3,28]],"date-time":"2025-03-28T00:00:00Z","timestamp":1743120000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"},{"start":{"date-parts":[[2025,3,28]],"date-time":"2025-03-28T00:00:00Z","timestamp":1743120000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/karger.com\/pages\/terms-and-conditions"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Respiration"],"abstract":"<jats:p>Introduction: Cystic fibrosis (CF) is a genetic disorder caused by mutations in the CFTR gene. A minority of people with CF carry two heterozygous CFTR mutations other than the common Phe508del, complicating diagnosis and treatment. Case Presentation: We report the case of a 25-year-old South American male diagnosed with CF respiratory disease, characterized by a history of recurrent infections, pulmonary Mycobacterium abscessus infection, airway disease on high-resolution CT, and an elevated sweat chloride level (74 mmol\/L). Exome sequencing identified a unique combination of CFTR mutations: a pathogenic frameshift variant (c.2052dup) and a variant of unknown clinical significance (c.710A&gt;C). Notably, there were no signs of pancreatic insufficiency. Rectal mucosal organoid cultures demonstrated residual CFTR function with responsiveness to ivacaftor and the combination of elexacaftor, tezacaftor, and ivacaftor. Conclusion: This case highlights a unique combination of heterozygous CFTR variants in a person with CF respiratory disease, which may be amendable to CFTR modulation therapy. <\/jats:p>","DOI":"10.1159\/000545552","type":"journal-article","created":{"date-parts":[[2025,3,29]],"date-time":"2025-03-29T13:10:34Z","timestamp":1743253834000},"page":"691-695","source":"Crossref","is-referenced-by-count":0,"title":["A Unique Combination of Heterozygous CFTR Gene Variants in a Person with Cystic Fibrosis and Mycobacterium abscessus Infection"],"prefix":"10.1159","volume":"104","author":[{"given":"Arthur","family":"Lemson","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cedric","family":"Bosteels","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0581-2003","authenticated-orcid":false,"given":"Jakko","family":"van Ingen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monique","family":"Reijers","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dineke","family":"Westra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wouter","family":"Hoefsloot","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2025,3,28]]},"reference":[{"doi-asserted-by":"publisher","key":"ref1","DOI":"10.1007\/bf00211022"},{"doi-asserted-by":"publisher","key":"ref2","DOI":"10.1016\/j.jmoldx.2011.09.001"},{"doi-asserted-by":"publisher","key":"ref3","DOI":"10.1002\/humu.10041"},{"doi-asserted-by":"publisher","key":"ref4","DOI":"10.1016\/j.jcf.2006.07.004"},{"doi-asserted-by":"publisher","key":"ref5","DOI":"10.1183\/23120541.00336-2022"},{"doi-asserted-by":"publisher","key":"ref6","DOI":"10.1136\/thoraxjnl-2015-207360"},{"doi-asserted-by":"publisher","key":"ref7","DOI":"10.1016\/j.jcf.2022.10.009"},{"doi-asserted-by":"publisher","key":"ref8","DOI":"10.1016\/j.jcf.2004.06.004"},{"doi-asserted-by":"publisher","key":"ref9","DOI":"10.1055\/s-0033-1343480"},{"doi-asserted-by":"publisher","key":"ref10","DOI":"10.1016\/j.jcf.2023.05.003"}],"container-title":["Respiration"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/karger.com\/res\/article-pdf\/doi\/10.1159\/000545552\/4357985\/000545552.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/karger.com\/article-pdf\/doi\/10.1159\/000545552","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,26]],"date-time":"2025-09-26T16:01:07Z","timestamp":1758902467000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000545552"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,3,28]]},"references-count":10,"journal-issue":{"issue":"9","published-online":{"date-parts":[[2025,9,26]]},"published-print":{"date-parts":[[2025,9,17]]}},"URL":"https:\/\/doi.org\/10.1159\/000545552","archive":["Portico"],"relation":{"is-supplemented-by":[{"id-type":"doi","id":"10.6084\/m9.figshare.28683521","asserted-by":"subject"}]},"ISSN":["0025-7931","1423-0356"],"issn-type":[{"type":"print","value":"0025-7931"},{"type":"electronic","value":"1423-0356"}],"subject":[],"published":{"date-parts":[[2025,3,28]]}}}