{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T21:28:08Z","timestamp":1790803688377,"version":"4.1.0"},"reference-count":27,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2025,3,1]],"date-time":"2025-03-01T00:00:00Z","timestamp":1740787200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2025,3,1]],"date-time":"2025-03-01T00:00:00Z","timestamp":1740787200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2025,2,14]],"date-time":"2025-02-14T00:00:00Z","timestamp":1739491200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000921","name":"European Cooperation in Science and Technology","doi-asserted-by":"publisher","award":["CIG16125 2022"],"award-info":[{"award-number":["CIG16125 2022"]}],"id":[{"id":"10.13039\/501100000921","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001659","name":"Deutsche Forschungsgemeinschaft","doi-asserted-by":"publisher","award":["Gr970\/9-2"],"award-info":[{"award-number":["Gr970\/9-2"]}],"id":[{"id":"10.13039\/501100001659","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100009340","name":"Children's Discovery Institute","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100009340","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["thelancet.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["eBioMedicine"],"published-print":{"date-parts":[[2025,3]]},"DOI":"10.1016\/j.ebiom.2025.105626","type":"journal-article","created":{"date-parts":[[2025,2,28]],"date-time":"2025-02-28T17:09:16Z","timestamp":1740762556000},"page":"105626","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":13,"special_numbering":"C","title":["Bi-allelic LAMP3 variants in childhood interstitial lung disease: a surfactant-related disease"],"prefix":"10.1016","volume":"113","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2105-1117","authenticated-orcid":false,"given":"Camille","family":"Louvrier","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tifenn","family":"Desroziers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yohan","family":"Soreze","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martha","family":"Delgado Rodriguez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucie","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val\u00e9rie","family":"Nau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Florence","family":"Dastot-Le Moal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan A.","family":"Bernstein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F. Sessions","family":"Cole","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9699-9351","authenticated-orcid":false,"given":"Markus","family":"Damme","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anthony","family":"Fischer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthias","family":"Griese","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Hinds","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Keehan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5515-3053","authenticated-orcid":false,"given":"Carlos","family":"Milla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hadhud","family":"Mohammad","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan","family":"Rips","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer A.","family":"Wambach","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel J.","family":"Wegner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Serge","family":"Amselem","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Legendre","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irina","family":"Giurgea","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sonia Athina","family":"Karabina","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oded","family":"Breuer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aurore","family":"Coulomb l'Hermin\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nadia","family":"Nathan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"11","key":"10.1016\/j.ebiom.2025.105626_bib1","doi-asserted-by":"crossref","first-page":"1078","DOI":"10.1136\/thoraxjnl-2015-207349","article-title":"European protocols for the diagnosis and initial treatment of interstitial lung disease in children","volume":"70","author":"Bush","year":"2015","journal-title":"Thorax"},{"issue":"3","key":"10.1016\/j.ebiom.2025.105626_bib2","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1164\/rccm.201305-0923ST","article-title":"An official American Thoracic Society clinical practice guideline: classification, evaluation, and management of childhood interstitial lung disease in infancy","volume":"188","author":"Kurland","year":"2013","journal-title":"Am J Respir Crit Care Med"},{"issue":"163","key":"10.1016\/j.ebiom.2025.105626_bib3","doi-asserted-by":"crossref","DOI":"10.1183\/16000617.0251-2021","article-title":"Interstitial lung disease in infancy and early childhood: a clinicopathological primer","volume":"31","author":"Laenger","year":"2022","journal-title":"Eur Respir Rev"},{"issue":"1","key":"10.1016\/j.ebiom.2025.105626_bib4","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1016\/j.arbres.2021.06.001","article-title":"Incidence and prevalence of Children's diffuse lung disease in Spain","volume":"58","author":"Torrent-Vernetta","year":"2022","journal-title":"Arch Bronconeumol"},{"issue":"9","key":"10.1016\/j.ebiom.2025.105626_bib5","doi-asserted-by":"crossref","first-page":"842","DOI":"10.1136\/thorax-2023-221325","article-title":"Epidemiology of childhood interstitial lung disease in France: the RespiRare cohort","volume":"79","author":"Fletcher","year":"2024","journal-title":"Thorax"},{"issue":"167","key":"10.1016\/j.ebiom.2025.105626_bib6","doi-asserted-by":"crossref","DOI":"10.1183\/16000617.0188-2022","article-title":"Diagnostic workup of childhood interstitial lung disease","volume":"32","author":"Nathan","year":"2023","journal-title":"Eur Respir Rev"},{"issue":"3","key":"10.1016\/j.ebiom.2025.105626_bib7","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1008651","article-title":"Recessive missense LAMP3 variant associated with defect in lamellar body biogenesis and fatal neonatal interstitial lung disease in dogs","volume":"16","author":"Dillard","year":"2020","journal-title":"PLoS Genet"},{"issue":"6","key":"10.1016\/j.ebiom.2025.105626_bib8","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1009619","article-title":"LAMP3 deficiency affects surfactant homeostasis in mice","volume":"17","author":"Lunding","year":"2021","journal-title":"PLoS Genet"},{"issue":"4","key":"10.1016\/j.ebiom.2025.105626_bib9","doi-asserted-by":"crossref","DOI":"10.1016\/j.gim.2024.101068","article-title":"Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield","volume":"26","author":"Rips","year":"2024","journal-title":"Genet Med"},{"key":"10.1016\/j.ebiom.2025.105626_bib10","series-title":"D28. PEDIATRIC PULMONOLOGY BENCH-TO-BEDSIDE: GENETICS, WHOLE-EXOME SEQUENCING, AND OMICS. American Thoracic Society International Conference Abstracts","first-page":"A7155","article-title":"Bi-Allelic LAMP3 variants in three children with interstitial lung disease: evidence of a novel disease-gene association","author":"Hinds","year":"2024"},{"issue":"5\u20136","key":"10.1016\/j.ebiom.2025.105626_bib11","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1016\/j.mam.2006.08.005","article-title":"Roles of LAMP-1 and LAMP-2 in lysosome biogenesis and autophagy","volume":"27","author":"Eskelinen","year":"2006","journal-title":"Mol Aspects Med"},{"key":"10.1016\/j.ebiom.2025.105626_bib12","doi-asserted-by":"crossref","first-page":"62","DOI":"10.1186\/1741-7007-10-62","article-title":"Crystal structure of the conserved domain of the DC lysosomal associated membrane protein: implications for the lysosomal glycocalyx","volume":"10","author":"Wilke","year":"2012","journal-title":"BMC Biol"},{"issue":"3","key":"10.1016\/j.ebiom.2025.105626_bib13","doi-asserted-by":"crossref","first-page":"861","DOI":"10.1016\/S0002-9440(10)63174-4","article-title":"CD208\/dendritic cell-lysosomal associated membrane protein is a marker of normal and transformed type II pneumocytes","volume":"164","author":"Salaun","year":"2004","journal-title":"Am J Pathol"},{"issue":"S1","key":"10.1016\/j.ebiom.2025.105626_bib14","doi-asserted-by":"crossref","first-page":"462","DOI":"10.1096\/fasebj.2019.33.1_supplement.462.4","article-title":"Cell type- and protein-specific induction of LAMP3","volume":"33","author":"Zhao","year":"2019","journal-title":"FASEB J"},{"issue":"6","key":"10.1016\/j.ebiom.2025.105626_bib15","doi-asserted-by":"crossref","first-page":"727","DOI":"10.1165\/rcmb.2004-0389OC","article-title":"Gene induction during differentiation of human pulmonary type II cells in\u00a0vitro","volume":"34","author":"Wade","year":"2006","journal-title":"Am J Respir Cell Mol Biol"},{"issue":"12","key":"10.1016\/j.ebiom.2025.105626_bib16","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pcbi.1008543","article-title":"PremPS: predicting the impact of missense mutations on protein stability","volume":"16","author":"Chen","year":"2020","journal-title":"PLoS Comput Biol"},{"issue":"3","key":"10.1016\/j.ebiom.2025.105626_bib17","doi-asserted-by":"crossref","first-page":"973","DOI":"10.1164\/ajrccm.161.3.9903153","article-title":"Allelic heterogeneity in hereditary surfactant protein B (SP-B) deficiency","volume":"161","author":"Nogee","year":"2000","journal-title":"Am J Respir Crit Care Med"},{"issue":"7","key":"10.1016\/j.ebiom.2025.105626_bib18","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1136\/jmg.2009.066829","article-title":"New surfactant protein C gene mutations associated with diffuse lung disease","volume":"46","author":"Guillot","year":"2009","journal-title":"J\u00a0Med Genet"},{"issue":"12","key":"10.1016\/j.ebiom.2025.105626_bib19","doi-asserted-by":"crossref","first-page":"1538","DOI":"10.1164\/rccm.201402-0342OC","article-title":"Genotype-phenotype correlations for infants and children with ABCA3 deficiency","volume":"189","author":"Wambach","year":"2014","journal-title":"Am J Respir Crit Care Med"},{"issue":"5","key":"10.1016\/j.ebiom.2025.105626_bib20","first-page":"1039","article-title":"Increased risk of autoimmune disorders in 21-hydroxylase deficiency: a Swedish population-based national cohort study","volume":"3","author":"Falhammar","year":"2019","journal-title":"J\u00a0Endocr Soc"},{"issue":"6","key":"10.1016\/j.ebiom.2025.105626_bib21","doi-asserted-by":"crossref","first-page":"1679","DOI":"10.1148\/rg.2017170006","article-title":"Interstitial lung disease in children made easier\u2026well, almost","volume":"37","author":"Semple","year":"2017","journal-title":"Radiographics"},{"issue":"1","key":"10.1016\/j.ebiom.2025.105626_bib22","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/j.rcl.2021.08.009","article-title":"Childhood interstitial lung disease: imaging guidelines and recommendations","volume":"60","author":"Semple","year":"2022","journal-title":"Radiol Clin"},{"issue":"3","key":"10.1016\/j.ebiom.2025.105626_bib23","doi-asserted-by":"crossref","DOI":"10.1183\/23120541.00066-2019","article-title":"Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood","volume":"5","author":"Manali","year":"2019","journal-title":"ERJ Open Res"},{"issue":"4","key":"10.1016\/j.ebiom.2025.105626_bib24","doi-asserted-by":"crossref","first-page":"765","DOI":"10.1093\/hmg\/ddr508","article-title":"Molecular and cellular characteristics of ABCA3 mutations associated with diffuse parenchymal lung diseases in children","volume":"21","author":"Flamein","year":"2012","journal-title":"Hum Mol Genet"},{"issue":"7","key":"10.1016\/j.ebiom.2025.105626_bib25","doi-asserted-by":"crossref","first-page":"1629","DOI":"10.1080\/15548627.2021.1995150","article-title":"LAMP3 inhibits autophagy and contributes to cell death by lysosomal membrane permeabilization","volume":"18","author":"Tanaka","year":"2022","journal-title":"Autophagy"},{"issue":"1","key":"10.1016\/j.ebiom.2025.105626_bib26","doi-asserted-by":"crossref","first-page":"568","DOI":"10.1038\/s42003-021-02083-4","article-title":"CRISPRi-mediated functional analysis of NKX2-1-binding sites in the lung","volume":"4","author":"Stuart","year":"2021","journal-title":"Commun Biol"},{"issue":"2","key":"10.1016\/j.ebiom.2025.105626_bib27","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1165\/rcmb.2006-0207OC","article-title":"Thyroid transcription factor in differentiating type II cells: regulation, isoforms, and target genes","volume":"36","author":"Kolla","year":"2007","journal-title":"Am J Respir Cell Mol Biol"}],"container-title":["eBioMedicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2352396425000702?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S2352396425000702?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,11,8]],"date-time":"2025-11-08T16:19:27Z","timestamp":1762618767000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S2352396425000702"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,3]]},"references-count":27,"alternative-id":["S2352396425000702"],"URL":"https:\/\/doi.org\/10.1016\/j.ebiom.2025.105626","relation":{},"ISSN":["2352-3964"],"issn-type":[{"value":"2352-3964","type":"print"}],"subject":[],"published":{"date-parts":[[2025,3]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Bi-allelic LAMP3 variants in childhood interstitial lung disease: a surfactant-related disease","name":"articletitle","label":"Article Title"},{"value":"eBioMedicine","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ebiom.2025.105626","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2025 The Authors. Published by Elsevier B.V.","name":"copyright","label":"Copyright"}],"article-number":"105626"}}