{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T14:30:59Z","timestamp":1788186659505,"version":"build-2803163510"},"reference-count":55,"publisher":"Korean Pediatric Society","issue":"7","license":[{"start":{"date-parts":[[2026,6,18]],"date-time":"2026-06-18T00:00:00Z","timestamp":1781740800000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["e-cep.org"],"crossmark-restriction":true},"short-container-title":["Clin Exp Pediatr"],"published-print":{"date-parts":[[2026,7,15]]},"abstract":"<jats:p>Background: Telomere biology disorders (TBDs) are rare inherited defects in telomere maintenance associated with multisystem diseases. Although pulmonary fibrosis has been well described in adults, data remain limited on childhood interstitial lung disease (chILD) related to TBDs.Purpose: This study aimed to characterize the pulmonary phenotype, genetic spectrum, and clinical course of pediatric TBD-associated chILD.Methods: We performed this registry-based cohort study using the European chILD-EU database to identify children with telomere maintenance gene variants. Their clinical data, longitudinal outcomes, telomere length (quantitative polymerase chain reaction), high-resolution computed tomography (HRCT), and histopathology findings were systematically analyzed.Results: Ten children were identified with genetically confirmed or suspected TBDs harboring variants in TERT, TERC, WRAP53, DKC1, PARN, and RTEL1. Telomere length was below the 1st age-adjusted percentile in 6 of the 8 tested patients. The HRCT findings were heterogeneous and included ground-glass opacities, reticular changes, cystic lesions, and emphysema. The histopathological patterns included cellular nonspecific interstitial pneumonia, usual interstitial pneumonia, follicular bronchiolitis, and pleuroparenchymal fibrosis. The disease course was frequently severe: 7 of the 10 patients required long-term oxygen therapy, 3 underwent hematopoietic stem cell transplantation, and 4 died during follow-up.Conclusion: TBD-associated chILD is a rare but clinically aggressive multisystem disorder with a broad radiological and histopathological spectrum. Early genetic testing and multidisciplinary management are essential since affected children may experience rapid disease progression and substantial mortality.<\/jats:p>","DOI":"10.3345\/cep.2026.00290","type":"journal-article","created":{"date-parts":[[2026,6,19]],"date-time":"2026-06-19T04:05:24Z","timestamp":1781841924000},"page":"593-603","update-policy":"https:\/\/doi.org\/10.3345\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Telomere biology disorders associated with childhood interstitial lung disease"],"prefix":"10.3345","volume":"69","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-9426-3900","authenticated-orcid":true,"given":"Maria","family":"Greiner-Mai","sequence":"first","affiliation":[{"name":"Department of Pediatrics, University of Leipzig Medical Center, Leipzig, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7371-8158","authenticated-orcid":true,"given":"Christina Katharina","family":"Rapp","sequence":"additional","affiliation":[{"name":"Department of Pediatric Pneumology, Dr. von Haunersches Kinderspital, German Center for Lung Research, Comprehensive Pneumology Center Munich (CPC-M), University of Munich, Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0104-692X","authenticated-orcid":true,"given":"Katrin","family":"Knoflach","sequence":"additional","affiliation":[{"name":"Department of Pediatric Pneumology, Dr. von Haunersches Kinderspital, German Center for Lung Research, Comprehensive Pneumology Center Munich (CPC-M), University of Munich, Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7680-0990","authenticated-orcid":true,"given":"Daniel","family":"Gr\u00e4fe","sequence":"additional","affiliation":[{"name":"Department of Pediatric Radiology, University of Leipzig Medical Center, Leipzig, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0960-3740","authenticated-orcid":true,"given":"Franz Wolfgang","family":"Hirsch","sequence":"additional","affiliation":[{"name":"Department of Pediatric Radiology, University of Leipzig Medical Center, Leipzig, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1940-1034","authenticated-orcid":true,"given":"Julia","family":"Ley-Zaporozhan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Pneumology, Dr. von Haunersches Kinderspital, German Center for Lung Research, Comprehensive Pneumology Center Munich (CPC-M), University of Munich, Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0009-4975-9222","authenticated-orcid":true,"given":"Simone","family":"Reu-Hofer","sequence":"additional","affiliation":[{"name":"Institute of Pathology, University of W\u00fcrzburg, W\u00fcrzburg, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5706-1424","authenticated-orcid":true,"given":"Julia","family":"Hentschel","sequence":"additional","affiliation":[{"name":"University of Leipzig Medical Center, Institute of Human Genetics, Leipzig, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1204-0627","authenticated-orcid":true,"given":"Stefan","family":"Zielen","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Johann Wolfgang Goethe University, Frankfurt, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika Helena","family":"Tedy","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics, University Children\u2019s Hospital M\u00fcnster, M\u00fcnster, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0282-6765","authenticated-orcid":true,"given":"Heymut","family":"Omran","sequence":"additional","affiliation":[{"name":"Department of General Pediatrics, University Children\u2019s Hospital M\u00fcnster, M\u00fcnster, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7899-8833","authenticated-orcid":true,"given":"Ernst","family":"Rietschel","sequence":"additional","affiliation":[{"name":"University Children\u2019s Hospital Cologne, Faculty of Medicine and University Hospital Cologne, Pediatric Pulmonology and Allergology, Cologne, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7284-4999","authenticated-orcid":true,"given":"Tu\u011fba Sismanlar","family":"Eyuboglu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Pulmonology, Gazi University Faculty of Medicine, Ankara, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5360-8517","authenticated-orcid":true,"given":"Ayse","family":"Tana-Aslan","sequence":"additional","affiliation":[{"name":"Department of Pediatric Pulmonology, Gazi University Faculty of Medicine, Ankara, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1405-8401","authenticated-orcid":true,"given":"Nagehan","family":"Emiralioglu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Pulmonology, Hacettepe University Faculty of Medicine, Ankara, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1111-5690","authenticated-orcid":true,"given":"Nicola","family":"Ullmann","sequence":"additional","affiliation":[{"name":"Pneumology and Cystic Fibrosis Unit, Bambino Ges\u00f9 Children\u2019s Hospital, IRCCS, Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1915-9965","authenticated-orcid":true,"given":"Samuele","family":"Naviglio","sequence":"additional","affiliation":[{"name":"Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3904-1021","authenticated-orcid":true,"given":"Massimo","family":"Maschio","sequence":"additional","affiliation":[{"name":"Institute for Maternal and Child Health IRCCS Burlo Garofolo, Trieste, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3718-8217","authenticated-orcid":true,"given":"Fabian","family":"Beier","sequence":"additional","affiliation":[{"name":"Department of Hematology, Oncology, Hemostaseology, Stem Cell Transplantation, Medical Faculty, RWTH Aachen University, Aachen, Germany"},{"name":"Center for Integrated Oncology Aachen Bonn Cologne D\u00fcsseldorf (CIO ABCD), Aachen, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7064-7585","authenticated-orcid":true,"given":"Tu\u011fba Ramasl\u0131","family":"G\u00fcrsoy","sequence":"additional","affiliation":[{"name":"University of Health Sciences Turkey, Van Training and Research Hospital, Clinic of Pediatric Pulmonology, Van, Turkey"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0113-912X","authenticated-orcid":true,"given":"Matthias","family":"Griese","sequence":"additional","affiliation":[{"name":"Department of Pediatric Pneumology, Dr. von Haunersches Kinderspital, German Center for Lung Research, Comprehensive Pneumology Center Munich (CPC-M), University of Munich, Munich, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2838-593X","authenticated-orcid":true,"given":"Freerk","family":"Prenzel","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Leipzig Medical Center, Leipzig, Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1897","reference":[{"key":"ref1","first-page":"842","type":"journal-article","volume-title":"Epidemiology of childhood interstitial lung disease in France: the RespiRare cohort","author":"Fletcher","year":"2024"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/j.arbres.2021.06.001","type":"journal-article"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.01855-2018","type":"journal-article"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1136\/thoraxjnl-2021-217479","type":"journal-article"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.3389\/fmed.2021.739810","type":"journal-article"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1080\/17474086.2019.1662720","type":"journal-article"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1007\/s40610-021-00145-4","type":"journal-article"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2020.00493","type":"journal-article"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1056\/nejmoa066157","type":"journal-article"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1016\/j.mrrev.2016.11.002","type":"journal-article"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1134\/s0006297910130055","type":"journal-article"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1186\/s13073-016-0324-x","type":"journal-article"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1006\/bcmd.2001.0389","type":"journal-article"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1136\/bmjresp-2021-001127","type":"journal-article"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0010680","type":"journal-article"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.12688\/f1000research.14068.1","type":"journal-article"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0024383","type":"journal-article"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1056\/nejmoa1515319","type":"journal-article"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2022.281808","type":"journal-article"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1155\/2016\/1310862","type":"journal-article"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1504780112","type":"journal-article"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2015.06.028","type":"journal-article"},{"key":"ref23","doi-asserted-by":"publisher","DOI":"10.1056\/nejmoa042980","type":"journal-article"},{"key":"ref24","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2011.055269","type":"journal-article"},{"key":"ref25","doi-asserted-by":"publisher","DOI":"10.1038\/ng0598-32","type":"journal-article"},{"key":"ref26","doi-asserted-by":"publisher","DOI":"10.1038\/35096585","type":"journal-article"},{"key":"ref27","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0508124102","type":"journal-article"},{"key":"ref28","volume-title":"","author":"Savage","type":"book"},{"key":"ref29","doi-asserted-by":"publisher","DOI":"10.1164\/rccm.200804-550oc","type":"journal-article"},{"key":"ref30","doi-asserted-by":"publisher","DOI":"10.1513\/annalsats.201808-508cme","type":"journal-article"},{"key":"ref31","doi-asserted-by":"publisher","DOI":"10.1136\/thorax-2024-221772","type":"journal-article"},{"key":"ref32","doi-asserted-by":"publisher","DOI":"10.1183\/23120541.00805-2020","type":"journal-article"},{"key":"ref33","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0701009104","type":"journal-article"},{"key":"ref34","doi-asserted-by":"publisher","DOI":"10.3390\/biomedicines11123257","type":"journal-article"},{"key":"ref35","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201610111","type":"journal-article"},{"key":"ref36","doi-asserted-by":"publisher","DOI":"10.1124\/jpet.113.208223","type":"journal-article"},{"key":"ref37","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.00161-2019","type":"journal-article"},{"key":"ref38","doi-asserted-by":"publisher","DOI":"10.1056\/nejmoa1903076","type":"journal-article"},{"key":"ref39","doi-asserted-by":"publisher","DOI":"10.1056\/nejmoa1908681","type":"journal-article"},{"key":"ref40","volume-title":"European Management Platform for Childhood Interstitial Lung Diseases - chILD-EU Register and Biobank (chILDEU) [Internet]","type":"web-resource"},{"key":"ref41","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkn1027","type":"journal-article"},{"key":"ref42","doi-asserted-by":"publisher","DOI":"10.1016\/s2213-2600(15)00096-x","type":"journal-article"},{"key":"ref43","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.00080312","type":"journal-article"},{"key":"ref44","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30","type":"journal-article"},{"key":"ref45","doi-asserted-by":"publisher","DOI":"10.3390\/jcm11061747","type":"journal-article"},{"key":"ref46","first-page":"2595","type":"journal-article","volume-title":"Telomeres: dysfunction, maintenance, aging and cancer","author":"Liao","year":"2023"},{"key":"ref47","doi-asserted-by":"publisher","DOI":"10.1093\/noajnl\/vdaa025","type":"journal-article"},{"key":"ref48","doi-asserted-by":"publisher","DOI":"10.4103\/0366-6999.240802","type":"journal-article"},{"key":"ref49","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.03198-2020","type":"journal-article"},{"key":"ref50","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.02115-2015","type":"journal-article"},{"key":"ref51","doi-asserted-by":"publisher","DOI":"10.1056\/nejmoa1402582","type":"journal-article"},{"key":"ref52","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.12748","type":"journal-article"},{"key":"ref53","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.12432","type":"journal-article"},{"key":"ref54","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.01641-2018","type":"journal-article"},{"key":"ref55","doi-asserted-by":"publisher","DOI":"10.3390\/ijms20133261","type":"journal-article"}],"container-title":["Clinical and Experimental Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.e-cep.org\/upload\/pdf\/cep-2026-00290.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.e-cep.org\/journal\/view.php?doi=10.3345\/cep.2026.00290","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.e-cep.org\/upload\/pdf\/cep-2026-00290.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,30]],"date-time":"2026-06-30T23:46:26Z","timestamp":1782863186000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.e-cep.org\/journal\/view.php?doi=10.3345\/cep.2026.00290"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,7,15]]},"references-count":55,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2026,7]]}},"URL":"https:\/\/doi.org\/10.3345\/cep.2026.00290","relation":{},"ISSN":["2713-4148"],"issn-type":[{"value":"2713-4148","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,7,15]]},"assertion":[{"value":"2026-02-15","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-04-28","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-06-18","order":2,"name":"published","label":"Published online","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-07-15","order":3,"name":"published","label":"Print publication","group":{"name":"publication_history","label":"Publication History"}}]}}