Seidl E, Schwerk N, Carlens J, Wetzke M, Cunningham S, Emiralioğlu N, Kiper N, Lange J, Krenke K, Ullmann N, Krikovszky D, chILD-EU collaborators, Maqhuzu P, Griese CA, Schwarzkopf L, Griese M. Healthcare resource utilisation and medical costs for children with interstitial lung diseases (chILD) in Europe. Thorax. 2022;77(8):781–9. https://doi.org/10.1136/thoraxjnl-2021-217751.

Article  PubMed  Google Scholar 

Niemitz M, Schwerk N, Goldbeck L, Griese M. Development and validation of a health-related quality of life questionnaire for pediatric patients with interstitial lung disease. Pediatr Pulmonol. 2018;53(7):954–63. https://doi.org/10.1002/ppul.24018.

Article  PubMed  Google Scholar 

Young L, et al. A national registry for childhood interstitial and diffuse lung diseases in the United States. (2018).

Griese M, Seidl E, Hengst M, Reu S, Rock H, Anthony G, Kiper N, Emiralioğlu N, Snijders D, Goldbeck L, Leidl R, Ley-Zaporozhan J, Krüger-Stollfuss I, Kammer B, Wesselak T, Eismann C, Schams A, Neuner D, MacLean M, Nicholson AG, Lauren M, Clement A, Epaud R, de Blic J, Ashworth M, Aurora P, Calder A, Wetzke M, Kappler M, Cunningham S, Schwerk N, Bush A, the other chILD-EU collaborators. International management platform for children’s interstitial lung disease (chILD-EU). Thorax. 2018;73(3):231–9. https://doi.org/10.1136/thoraxjnl-2017-210519.

Article  PubMed  Google Scholar 

Casamento K, et al. Assessing the feasibility of a web-based registry for multiple orphan lung diseases: the Australasian Registry Network for Orphan Lung Disease (ARNOLD) experience. Orphanet J Rare Dis. 2016;11:1–6.

Article  Google Scholar 

Torrent-Vernetta A, Gaboli M, Castillo-Corullón S, Mondéjar-López P, Sanz Santiago V, Costa-Colomer J, Osona B, Torres-Borrego J, de la Serna-Blázquez O, Bellón Alonso S, Caro Aguilera P, Gimeno-DíazdeAtauri Á, Valenzuela Soria A, Ayats R, Martinde Vicente C, Velasco González V, Moure González JD, Canino Calderín EM, Pastor-Vivero MD, Villar Álvarez MÁ, Rovira-Amigo S, Iglesias Serrano I, Díez Izquierdo A, de MirMessa I, Gartner S, Navarro A, Baz-Redón N, Carmona R, Camats-Tarruella N, Fernández-Cancio M, Rapp C, Dopazo J, Griese M, Moreno-Galdó A, ChILD-Spain Group. Incidence and prevalence of children’s diffuse lung disease in Spain. Arch Bronconeumol. 2022;58(1):22–9. https://doi.org/10.1016/j.arbres.2021.06.001. (English, Spanish).

Article  PubMed  Google Scholar 

Griese M. Chronic interstitial lung disease in children. Eur Respir Rev. 2018;27(147): 170100. https://doi.org/10.1183/16000617.0100-2017.

Article  PubMed  PubMed Central  Google Scholar 

Nathan N, Griese M, Michel K, Carlens J, Gilbert C, Emiralioglu N, Torrent-Vernetta A, Marczak H, Willemse B, Delestrain C, Epaud R, ERS CRC chILD-EU group. Diagnostic workup of childhood interstitial lung disease. Eur Respir Rev. 2023;32(167):220188. https://doi.org/10.1183/16000617.0188-2022.

Article  PubMed  PubMed Central  Google Scholar 

Cunningham S, Jaffe A, Young LR. Children’s interstitial and diffuse lung disease. Lancet Child Adolesc Health. 2019;3(8):568–77. https://doi.org/10.1016/S2352-4642(19)30117-8. (Epub 2019 Jun 18).

Article  PubMed  Google Scholar 

Clement A, Nathan N, Epaud R, et al. Interstitial lung diseases in children. Orphanet J Rare Dis. 2010;5:22. https://doi.org/10.1186/1750-1172-5-22.

Article  PubMed  PubMed Central  Google Scholar 

Del Álamo M, Bührer C, Fisher D, Griese M, Lingor P, Palladini G, Sireau N, Hivert V, Sangiorgi L, Guillot F, Halftermeyer J, Soucková L, Nosková K, Demlová R. Identifying obstacles hindering the conduct of academic-sponsored trials for drug repurposing on rare-diseases: an analysis of six use cases. Trials. 2022;23(1):783. https://doi.org/10.1186/s13063-022-06713-y.

Article  PubMed  PubMed Central  Google Scholar 

Ring AM, Schwerk N, Kiper N, Aslan AT, Aurora P, Ayats R, Azevedo I, Bandeira T, Carlens J, Castillo-Corullon S, Cobanoglu N, Elnazir B, Emiralioğlu N, Eyuboglu TS, Fayon M, Gursoy TR, Hogg C, Kötz K, Karadag B, Látalová V, Krenke K, Lange J, Manali ED, Osona B, Papiris S, Proesmann M, Reix P, Roditis L, Rubak S, Rumman N, Snijders D, Stehling F, Weiss L, Yalcın E, Zirek F, Bush A, Clement A, Griese M, Buchvald FF, Nathan N, Nielsen KG. Diffuse alveolar haemorrhage in children: an international multicentre study. ERJ Open Res. 2023;9(2):00733–2022. https://doi.org/10.1183/23120541.00733-2022. (Erratum in: ERJ Open Res. 2023 May 30;9(3)).

Article  PubMed  PubMed Central  Google Scholar 

Rauch D, Wetzke M, Reu S, Wesselak W, Schams A, Hengst M, Kammer B, Ley-Zaporozhan J, Kappler M, Proesmans M, Lange J, Escribano A, Kerem E, Ahrens F, Brasch F, Schwerk N, Griese M, PTI (Persistent Tachypnea of Infancy) Study Group of the Kids Lung Register. Persistent tachypnea of infancy. Usual and aberrant. Am J Respir Crit Care Med. 2016;193(4):438–47. https://doi.org/10.1164/rccm.201508-1655OC.

Article  PubMed  Google Scholar 

Clement A, ERS Task Force. Task force on chronic interstitial lung disease in immunocompetent children. Eur Respir J. 2004;24(4):686–97. https://doi.org/10.1183/09031936.04.00089803.

Article  CAS  PubMed  Google Scholar 

Deutsch GH, Young LR, Deterding RR, Fan LL, Dell SD, Bean JA, Brody AS, Nogee LM, Trapnell BC, Langston C, Pathology Cooperative Group, ChILD Research Co-operative, et al. Diffuse lung disease in young children: application of a novel classification scheme. Am J Respir Crit Care Med. 2007;176:1120–8.

Article  PubMed  PubMed Central  Google Scholar 

Kurland G, Deterding RR, Hagood JS, Young LR, Brody AS, Castile RG, Dell S, Fan LL, Hamvas A, Hilman BC, Langston C, Nogee LM, Redding GJ, American Thoracic Society Committee on Childhood Interstitial Lung Disease (chILD) and the chILD Research Network. An official American Thoracic Society clinical practice guideline: classification, evaluation, and management of childhood interstitial lung disease in infancy. Am J Respir Crit Care Med. 2013;188(3):376–94. https://doi.org/10.1164/rccm.201305-0923ST.

Article  PubMed  PubMed Central  Google Scholar 

Bush A, Cunningham S, de Blic J, et al. European protocols for the diagnosis and initial treatment of interstitial lung disease in children. Thorax. 2015;70:1078–84.

Article  PubMed  Google Scholar 

Griese M. Etiologic classification of diffuse parenchymal (interstitial) lung diseases. J Clin Med. 2022;11:1747. https://doi.org/10.3390/jcm11061747.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Koucký V, Pohunek P, Vašáková M, Bush A. Transition of patients with interstitial lung disease from paediatric to adult care. ERJ Open Res. 2021;7(2):00964–2020. https://doi.org/10.1183/23120541.00964-2020.

Article  PubMed  PubMed Central  Google Scholar 

Dervaux M, Thumerelle C, Fabre C, Abou-Taam R, Bihouee T, Brouard J, Clement A, Delacourt C, Delestrain C, Epaud R, Ghdifan S, Hadchouel A, Houdouin V, Labouret G, Perisson C, Reix P, Renoux MC, Troussier F, Weiss L, Mazenq J, Nathan N, Dubus JC. Long-term evolution of neuroendocrine cell hyperplasia of infancy: the FRENCHI findings. Eur J Pediatr. 2023;182(2):949–56.

Article  CAS  PubMed  Google Scholar 

Seidl E, Carlens J, Schwerk N, Wetzke M, Marczak H, Lange J, Krenke K, Mayell SJ, Escribano A, Seidenberg J, Ahrens F, Hebestreit H, Nährlich L, Sismanlar T, Aslan AT, Snijders D, Ullmann N, Kappler M, Griese M. Persistent tachypnea of infancy: follow up at school age. Pediatr Pulmonol. 2020;55(11):3119–25. https://doi.org/10.1002/ppul.25004. (Epub 2020 Aug 13).

Article  PubMed  Google Scholar 

Singh J, Jaffe A, Schultz A, Selvadurai H. Surfactant protein disorders in childhood interstitial lung disease. Eur J Pediatr. 2021;180(9):2711–21.

Article  CAS  PubMed  Google Scholar 

Trapnell BC, Nakata K, Bonella F, Campo I, Griese M, Hamilton J, Wang T, Morgan C, Cottin V, McCarthy C. Pulmonary alveolar proteinosis. Nat Rev Dis Primers. 2019;5(1):16.

Article  PubMed  Google Scholar 

Li Y, Seidl E, Knoflach K, Gothe F, Forstner ME, Michel K, Pawlita I, Gesenhues F, Sattler F, Yang X, Kroener C, Reu-Hofer S, Ley-Zaporozhan J, Kammer B, Krüger-Stollfuß I, Dinkel J, Carlens J, Wetzke M, Moreno-Galdó A, Torrent-Vernetta A, Lange J, Krenke K, Rumman N, Mayell S, Sismanlar T, Aslan A, Regamey N, Proesmans M, Stehling F, Naehrlich L, Ayse K, Becker S, Koerner-Rettberg C, Plattner E, Manali ED, Papiris SA, Campo I, Kappler M, Schwerk N, Griese M. ABCA3-related interstitial lung disease beyond infancy. Thorax. 2023;78(6):587–95. https://doi.org/10.1136/thorax-2022-219434.

Article  PubMed  Google Scholar 

Manali ED, Legendre M, Nathan N, Kannengiesser C, Coulomb-L’Hermine A, Tsiligiannis T, Tomos P, Griese M, Borie R, Clement A, Amselem S, Crestani B, Papiris SA. Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood. ERJ Open Res. 2019;5(3):00066–2019. https://doi.org/10.1183/23120541.00066-2019.

Article  PubMed  PubMed Central  Google Scholar 

van Moorsel CHM, van der Vis JJ, Grutters JC. Genetic disorders of the surfactant system: focus on adult disease. Eur Respir Rev. 2021;30(159): 200085. https://doi.org/10.1183/16000617.0085-2020.

Article  PubMed  PubMed Central  Google Scholar 

Nathan N, Sileo C, Calender A, Pacheco Y, Rosental PA, Cavalin C, Macchi O, Valeyre D, Clement A, French Sarcoidosis Group (GSF), Silicosis Research Group. Paediatric sarcoidosis. Paediatr Respir Rev. 2019;29:53–9.

PubMed  Google Scholar 

Tarvin SE, O’Neil KM. Systemic lupus erythematosus, Sjögren syndrome, and mixed connective tissue disease in children and adolescents. Pediatr Clin North Am. 2018;65(4):711–37.

Article  PubMed  Google Scholar 

Nevel RJ, Deutsch GH, Craven D, Deterding R, Fishman MP, Wambach JA, Casey A, Krone K, Liptzin DR, O'Connor MG, Kurland G, Taylor JB, Gower WA, Hagood JS, Conrad C, Tam-Williams JB, Fiorino EK, Goldfarb S, Sadreameli SC, Nogee LM, Montgomery G, Hamvas A, Laguna TA, Bansal M, Lew C, Santiago M, Popova A, De A, Chan M, Powers MR, Josephson MB, Camburn D, Voss L, Li Y, Young LR; chILD Registry Collaborative. The US national registry for childhood interstitial and diffuse lung disease: report of study design and initial enrollment cohort. Pediatr Pulmonol. 2023.

Nogee LM. Genetic basis of children’s interstitial lung disease. Pediatr Allergy Immunol Pulmonol. 2010;23:15–24.

Article  PubMed  PubMed Central  Google Scholar 

Hamvas A. Inherited surfactant protein-B deficiency and surfactant protein-C associated disease: clinical features and evaluation. Semin Perinatol. 2006;30:316–26.

Article  PubMed  Google Scholar 

Doan M, Guillerman R, Dishop M, Nogee L, Langston C, Mallory G, Sockrider M, Fan L. Clinical, radiological and pathological features of ABCA3 mutations in children. Thorax. 2008;63:366–73.

Article  CAS  PubMed  Google Scholar 

Patel NJ, Jankovic J. NKX2-1-related disorders. 2014 [updated 2016 Jul 29]. In: Adam MP, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle: University of Washington, Seattle; 1993–2023.

Kröner C, Reu S, Teusch V, Schams A, Grimmelt AC, Barker M, Brand J, Gappa M, Kitz R, Kramer BW, Lange L, Lau S, Pfannenstiel C, Proesmans M, Seidenberg J, Sismanlar T, Aslan AT, Werner C, Zielen S, Zarbock R, Brasch F, Lohse P, Griese M. Genotype alone does not predict the clinical course of SFTPC deficiency in paediatric patients. Eur Respir J. 2015;46(1):197–206. https://doi.org/10.1183/09031936.00129414.

Article  PubMed