Pub Date : 2018-09-15DOI: 10.1183/13993003.congress-2018.pa2233
R. Borie, C. Kannengiesser, S. Amselem, O. Brugière, D. Bouvry, A. Clément, V. Cottin, P. Dieudé, C. Dupin, R. Epaud, L. Gouya, P. Fanen, F. Fontbrune, L. Wémeau-Stervinou, N. Nathan, B. Crestani
{"title":"Multidisciplinary team dedicated to suspected heritable pulmonary fibrosis","authors":"R. Borie, C. Kannengiesser, S. Amselem, O. Brugière, D. Bouvry, A. Clément, V. Cottin, P. Dieudé, C. Dupin, R. Epaud, L. Gouya, P. Fanen, F. Fontbrune, L. Wémeau-Stervinou, N. Nathan, B. Crestani","doi":"10.1183/13993003.congress-2018.pa2233","DOIUrl":"https://doi.org/10.1183/13993003.congress-2018.pa2233","url":null,"abstract":"","PeriodicalId":267660,"journal":{"name":"Rare ILD/DPLD","volume":"58 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126388110","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2018-09-15DOI: 10.1183/13993003.CONGRESS-2018.PA2235
N. Nathan, M. Legendre, Emilie Filhol-Blin, R. Borie, D. Bouvry, C. Kannengiesser, K. Ahmad, J. Albuisson, N. Allou, K. Borensztajn, Afifaa Butt, B. Copin, V. Cottin, B. Crestani, J. Dalphin, F. Moal, C. Delacourt, P. Vuyst, P. Duquesnoy, V. Giraud, Carine Gomez, L. Gouya, V. Nau, H. Nunes, C. Picard, G. Prévôt, P. Reix, M. Reynaud‐Gaubert, J. Traclet, A. L'hermine, A. Clément, S. Amselem
Background: Heterozygous mutations in the SFTPA1 and SFTPA2 genes, encoding the surfactant protein SP-A1 and SP-A2 have been associated with rare forms of familial IIP and lung adenocarcinoma. We previously described 11 new heterozygous SFTPA1 and SFTPA2 variations in 13 unrelated patients including one newborn. The study aims to analyze the pathogenicity of those variations. Methods: We first analyzed the intrafamilial segregation of the identified variations with IIP and lung cancer. The production and the secretion of the mutant proteins were subsequently studied in HEK293T cells transiently expressing the SP-A proteins carrying the variations. Finally, SP-A expression was assessed on lung tissues of the patients. Results: In the studied families (38 adults, 3 children), the variations segregated with either IIP and/or lung cancer (37%) with an incomplete penetrance of the disease phenotype. The mean age at onset of the IIP was 45 years (0-68). Nine of the variations were located in the highly conserved carbohydrate recognition domain of the protein. In vitro, the mutant proteins were produced but their secretion was absent (n=9) or altered (n=2). The lung expression of SP-A studied in 3 unrelated patients showed an increased expression of SP-A in the cytoplasm of hypertrophic type 2 alveolar cells. Discussion and conclusion: The 11 identified SFTPA1 and SFTPA2 variations are pathogenic. They are associated with IIP and with an increased risk of lung cancer. They were identified mainly in adults but also in children. The pathophysiological consequences of their abnormal secretion/expression remain to be elucidated.
{"title":"Functional assessment of newly identified SFTPA1 and SFTPA2 mutations in patients with idiopathic interstitial pneumonia (IIP) and lung cancer","authors":"N. Nathan, M. Legendre, Emilie Filhol-Blin, R. Borie, D. Bouvry, C. Kannengiesser, K. Ahmad, J. Albuisson, N. Allou, K. Borensztajn, Afifaa Butt, B. Copin, V. Cottin, B. Crestani, J. Dalphin, F. Moal, C. Delacourt, P. Vuyst, P. Duquesnoy, V. Giraud, Carine Gomez, L. Gouya, V. Nau, H. Nunes, C. Picard, G. Prévôt, P. Reix, M. Reynaud‐Gaubert, J. Traclet, A. L'hermine, A. Clément, S. Amselem","doi":"10.1183/13993003.CONGRESS-2018.PA2235","DOIUrl":"https://doi.org/10.1183/13993003.CONGRESS-2018.PA2235","url":null,"abstract":"Background: Heterozygous mutations in the SFTPA1 and SFTPA2 genes, encoding the surfactant protein SP-A1 and SP-A2 have been associated with rare forms of familial IIP and lung adenocarcinoma. We previously described 11 new heterozygous SFTPA1 and SFTPA2 variations in 13 unrelated patients including one newborn. The study aims to analyze the pathogenicity of those variations. Methods: We first analyzed the intrafamilial segregation of the identified variations with IIP and lung cancer. The production and the secretion of the mutant proteins were subsequently studied in HEK293T cells transiently expressing the SP-A proteins carrying the variations. Finally, SP-A expression was assessed on lung tissues of the patients. Results: In the studied families (38 adults, 3 children), the variations segregated with either IIP and/or lung cancer (37%) with an incomplete penetrance of the disease phenotype. The mean age at onset of the IIP was 45 years (0-68). Nine of the variations were located in the highly conserved carbohydrate recognition domain of the protein. In vitro, the mutant proteins were produced but their secretion was absent (n=9) or altered (n=2). The lung expression of SP-A studied in 3 unrelated patients showed an increased expression of SP-A in the cytoplasm of hypertrophic type 2 alveolar cells. Discussion and conclusion: The 11 identified SFTPA1 and SFTPA2 variations are pathogenic. They are associated with IIP and with an increased risk of lung cancer. They were identified mainly in adults but also in children. The pathophysiological consequences of their abnormal secretion/expression remain to be elucidated.","PeriodicalId":267660,"journal":{"name":"Rare ILD/DPLD","volume":"10 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126398405","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2018-09-15DOI: 10.1183/13993003.CONGRESS-2018.PA3022
Marion Gros, A. Becdelièvre, D. Lehalle, C. Delestrain, Annick Le Floch, B. Funalot, P. Fanen, R. Epaud
{"title":"Genetic interstitial lung disease: an unusual case","authors":"Marion Gros, A. Becdelièvre, D. Lehalle, C. Delestrain, Annick Le Floch, B. Funalot, P. Fanen, R. Epaud","doi":"10.1183/13993003.CONGRESS-2018.PA3022","DOIUrl":"https://doi.org/10.1183/13993003.CONGRESS-2018.PA3022","url":null,"abstract":"","PeriodicalId":267660,"journal":{"name":"Rare ILD/DPLD","volume":"54 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"128305062","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2018-09-15DOI: 10.1183/13993003.CONGRESS-2018.OA3784
M. Zorzetto, F. Bonella, F. Mariani, Elena Paracchini, Zamir Kadija, M. Grassi, F. Meloni, I. Campo
Rationale: PAP is a an ultra-rare disease where a perturbation in surfactant homeostasis results in its accumulation within airspaces, thus impairing gas transfer. WLL currently remains the therapeutic standard, even if it may induce complete resolution of the disorder only in 30% of patients. Aim: To characterize the gene network able to predict the outcome of the WLL, i.e. total resolution/persistent improvement vs transient resolution/progressive deterioration. Methods: We conducted a gene interaction network analysis, with web-based software (esyN), to calculate hub and bottleneck genes previously investigated by a microarray analysis (1), performed on the PBMCs of 16 PAP patients treated with WLL and followed for 24 months. Hub genes were identified by the number of interactions within the network. Bottleneck genes were identified by calculating the betweenness centrality index (BCI) for each gene in the network. BCI reflects the amount of control that a gene exerts over the interactions of other genes in the network. Results: We found that SMAD3, which acts as a mediator of the profibrotic signals initiated by TGF-β and SYNCRIP, which plays a role in multiple aspects of mRNA maturation, are top ranked hubs genes. Interestingly, SMAD3 is also the top ranked bottleneck gene. Conclusion: The SMAD3 transcription factor seems to be the central mediator and conductor of the gene network involved in the response to the WLL treatment in PAP patients. 1- M Zorzetto, et al. A gene network to predict the clinical response to whole lung lavage (WLL), in pulmonary alveolar proteinosis (PAP). ERS Annual Congress, Milano, Italy, September 9-13, 2017.
理论依据:PAP是一种极其罕见的疾病，表面活性剂稳态的扰动导致其在空气空间内积聚，从而损害气体转移。WLL目前仍然是治疗标准，即使它可能仅在30%的患者中引起疾病的完全解决。目的:描述能够预测WLL预后的基因网络，即完全缓解/持续改善vs短暂缓解/进行性恶化。方法:我们使用基于web的软件(esyN)进行了基因相互作用网络分析，以计算先前通过微阵列分析(1)研究的枢纽和瓶颈基因，对16名接受WLL治疗的PAP患者的pbmc进行了研究，并随访了24个月。通过网络内相互作用的数量来确定枢纽基因。通过计算网络中每个基因的中间中心性指数(BCI)来识别瓶颈基因。脑机接口反映了一个基因对网络中其他基因相互作用的控制程度。结果:我们发现SMAD3作为TGF-β和SYNCRIP引发的纤维化信号的中介，在mRNA成熟的多个方面发挥作用，是排名最高的枢纽基因。有趣的是，SMAD3也是排名最高的瓶颈基因。结论:SMAD3转录因子可能是参与PAP患者对WLL治疗反应的基因网络的中心介质和传导因子。1- M Zorzetto等。预测肺泡蛋白沉积症(PAP)患者全肺灌洗(WLL)临床反应的基因网络。2017年9月9-13日，意大利米兰。
{"title":"Characterization of the gene network driving the whole lung lavage (WLL) outcome in Pulmonary Alveolar Proteinosis (PAP).","authors":"M. Zorzetto, F. Bonella, F. Mariani, Elena Paracchini, Zamir Kadija, M. Grassi, F. Meloni, I. Campo","doi":"10.1183/13993003.CONGRESS-2018.OA3784","DOIUrl":"https://doi.org/10.1183/13993003.CONGRESS-2018.OA3784","url":null,"abstract":"Rationale: PAP is a an ultra-rare disease where a perturbation in surfactant homeostasis results in its accumulation within airspaces, thus impairing gas transfer. WLL currently remains the therapeutic standard, even if it may induce complete resolution of the disorder only in 30% of patients. Aim: To characterize the gene network able to predict the outcome of the WLL, i.e. total resolution/persistent improvement vs transient resolution/progressive deterioration. Methods: We conducted a gene interaction network analysis, with web-based software (esyN), to calculate hub and bottleneck genes previously investigated by a microarray analysis (1), performed on the PBMCs of 16 PAP patients treated with WLL and followed for 24 months. Hub genes were identified by the number of interactions within the network. Bottleneck genes were identified by calculating the betweenness centrality index (BCI) for each gene in the network. BCI reflects the amount of control that a gene exerts over the interactions of other genes in the network. Results: We found that SMAD3, which acts as a mediator of the profibrotic signals initiated by TGF-β and SYNCRIP, which plays a role in multiple aspects of mRNA maturation, are top ranked hubs genes. Interestingly, SMAD3 is also the top ranked bottleneck gene. Conclusion: The SMAD3 transcription factor seems to be the central mediator and conductor of the gene network involved in the response to the WLL treatment in PAP patients. 1- M Zorzetto, et al. A gene network to predict the clinical response to whole lung lavage (WLL), in pulmonary alveolar proteinosis (PAP). ERS Annual Congress, Milano, Italy, September 9-13, 2017.","PeriodicalId":267660,"journal":{"name":"Rare ILD/DPLD","volume":"47 1 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"121154718","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2018-09-15DOI: 10.1183/13993003.CONGRESS-2018.PA2237
Aurélia Alimi, J. Taytard, R. A. Taam, V. Houdouin, Aude Forgeron, M. L. Lavadera, P. Cros, I. Gibertini, J. Derelle, A. Deschildre, C. Thumerelle, R. Epaud, P. Reix, M. Fayon, S. Roullaud, F. Troussier, M. Renoux, J. Blic, Sophie Leyronnas, G. Thouvenin, C. Perisson, A. Ravel, A. Clément, H. Corvol, N. Nathan
Introduction: Pulmonary hemosiderosis is a rare cause of interstitial lung disease in children. The French experience had previously highlighted that 20% of the 25 included children also had Down syndrome (DS). In this study populations, the main features of the patients with hemosiderosis were unspecific stigmata of autoimmune disease. This study aims to investigate the relationships between pulmonary hemosiderosis and DS. Material and methods: Patients with pulmonary hemosiderosis followed is one of RespiRare network and younger than 20 years old at diagnosis were selected. The following data were collected : DS status, clinical, biological, functional, and radiological findings. Results: Nine of the 34 included patients (26%) had DS. They were a girl predominance (72%) in the non-DS group, and a male predominance in the DS group (56%). The mean age at the diagnosis was 3.80±3.30 with no significant difference between DS and non-DS patients. DS patients tended to present a more severe form of the disease with more dyspnoea (p=0.03) and more pulmonary arterial hypertension (PAH) (p=0.0003). The 3 (9%) patients who died were DS patients (p=0.0003). Discussion and conclusions: DS seem to be a risk factor for hemosiderosis. Hemosiderosis in DS patients is more severe at presentation, and at follow-up. Several hypotheses can be proposed for such association: an increased fragility of the lung capillary, a higher susceptibility to autoimmune lesions, and a higher risk of chronic hypoxia, leading to PAH. In DS, hemosiderosis should be considered in patients with anaemia of unknown origin.
{"title":"Down syndrome and pulmonary hemosiderosis: an under-recognized association","authors":"Aurélia Alimi, J. Taytard, R. A. Taam, V. Houdouin, Aude Forgeron, M. L. Lavadera, P. Cros, I. Gibertini, J. Derelle, A. Deschildre, C. Thumerelle, R. Epaud, P. Reix, M. Fayon, S. Roullaud, F. Troussier, M. Renoux, J. Blic, Sophie Leyronnas, G. Thouvenin, C. Perisson, A. Ravel, A. Clément, H. Corvol, N. Nathan","doi":"10.1183/13993003.CONGRESS-2018.PA2237","DOIUrl":"https://doi.org/10.1183/13993003.CONGRESS-2018.PA2237","url":null,"abstract":"Introduction: Pulmonary hemosiderosis is a rare cause of interstitial lung disease in children. The French experience had previously highlighted that 20% of the 25 included children also had Down syndrome (DS). In this study populations, the main features of the patients with hemosiderosis were unspecific stigmata of autoimmune disease. This study aims to investigate the relationships between pulmonary hemosiderosis and DS. Material and methods: Patients with pulmonary hemosiderosis followed is one of RespiRare network and younger than 20 years old at diagnosis were selected. The following data were collected : DS status, clinical, biological, functional, and radiological findings. Results: Nine of the 34 included patients (26%) had DS. They were a girl predominance (72%) in the non-DS group, and a male predominance in the DS group (56%). The mean age at the diagnosis was 3.80±3.30 with no significant difference between DS and non-DS patients. DS patients tended to present a more severe form of the disease with more dyspnoea (p=0.03) and more pulmonary arterial hypertension (PAH) (p=0.0003). The 3 (9%) patients who died were DS patients (p=0.0003). Discussion and conclusions: DS seem to be a risk factor for hemosiderosis. Hemosiderosis in DS patients is more severe at presentation, and at follow-up. Several hypotheses can be proposed for such association: an increased fragility of the lung capillary, a higher susceptibility to autoimmune lesions, and a higher risk of chronic hypoxia, leading to PAH. In DS, hemosiderosis should be considered in patients with anaemia of unknown origin.","PeriodicalId":267660,"journal":{"name":"Rare ILD/DPLD","volume":"2016 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"132890521","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2018-09-15DOI: 10.1183/13993003.CONGRESS-2018.PA2236
N. Nathan, M. Legendre, S. Amselem, A. Clément, Emilie Filhol-Blin, N. Richard, S. Roullaud, M. Fayon, G. Rice, D. Duffy, V. Bondet, Aurore Coulomb l’Hermine, B. Neven, M. Frémond, Y. Crow
{"title":"COPA syndrome restricted to life-threatening alveolar hemorrhages: clinical, pathological, molecular and biological characterization","authors":"N. Nathan, M. Legendre, S. Amselem, A. Clément, Emilie Filhol-Blin, N. Richard, S. Roullaud, M. Fayon, G. Rice, D. Duffy, V. Bondet, Aurore Coulomb l’Hermine, B. Neven, M. Frémond, Y. Crow","doi":"10.1183/13993003.CONGRESS-2018.PA2236","DOIUrl":"https://doi.org/10.1183/13993003.CONGRESS-2018.PA2236","url":null,"abstract":"","PeriodicalId":267660,"journal":{"name":"Rare ILD/DPLD","volume":"44 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116022614","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2018-09-15DOI: 10.1183/13993003.CONGRESS-2018.PA2243
O. Wand, Osnat Moreh Rahav, O. Shtraichman, M. Kramer
{"title":"Pleural effusion in patients with IgG4-related disease: new insights from a case series","authors":"O. Wand, Osnat Moreh Rahav, O. Shtraichman, M. Kramer","doi":"10.1183/13993003.CONGRESS-2018.PA2243","DOIUrl":"https://doi.org/10.1183/13993003.CONGRESS-2018.PA2243","url":null,"abstract":"","PeriodicalId":267660,"journal":{"name":"Rare ILD/DPLD","volume":"65 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"116611315","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2018-09-15DOI: 10.1183/13993003.CONGRESS-2018.PA2239
A. Bogorad, Y. Mizernitsky, Nadejda Rosinova, N. Lev, L. Sokolova, Svetlana Djakova, I. Zorina, Margarita Kostiutchenko
{"title":"Alveolar hemorrhage syndrome in children","authors":"A. Bogorad, Y. Mizernitsky, Nadejda Rosinova, N. Lev, L. Sokolova, Svetlana Djakova, I. Zorina, Margarita Kostiutchenko","doi":"10.1183/13993003.CONGRESS-2018.PA2239","DOIUrl":"https://doi.org/10.1183/13993003.CONGRESS-2018.PA2239","url":null,"abstract":"","PeriodicalId":267660,"journal":{"name":"Rare ILD/DPLD","volume":"255 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"121324015","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2018-09-15DOI: 10.1183/13993003.CONGRESS-2018.PA3018
G. Okumus, Z. Bingol, G. Öcal, E. Kıyan
{"title":"Our cases with pulmonary alveolar proteinosis","authors":"G. Okumus, Z. Bingol, G. Öcal, E. Kıyan","doi":"10.1183/13993003.CONGRESS-2018.PA3018","DOIUrl":"https://doi.org/10.1183/13993003.CONGRESS-2018.PA3018","url":null,"abstract":"","PeriodicalId":267660,"journal":{"name":"Rare ILD/DPLD","volume":"7 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"126652580","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2018-09-15DOI: 10.1183/13993003.congress-2018.pa3020
E. Manali, N. Nathan, C. Kannengiesser, P. Tomos, A. Coulomb-L'Hermine, P. Korkolopoulou, P. Foukas, L. Kolilekas, K. Kagouridis, M. Maniati, S. Argentos, I. Korbila, I. Tomos, Nikolaos Roussakis, M. Kallieri, A. Schams, M. Griese, T. Tsiligiannis, A. Karakatsani, S. Loukides, Georgios N. Koutsocheras, Angeliki Androu, M. Legendre, S. Amselem, R. Borie, B. Crestani, S. Papiris
{"title":"Lung disease caused by non-null ABCA3 mutations: long-term follow-up","authors":"E. Manali, N. Nathan, C. Kannengiesser, P. Tomos, A. Coulomb-L'Hermine, P. Korkolopoulou, P. Foukas, L. Kolilekas, K. Kagouridis, M. Maniati, S. Argentos, I. Korbila, I. Tomos, Nikolaos Roussakis, M. Kallieri, A. Schams, M. Griese, T. Tsiligiannis, A. Karakatsani, S. Loukides, Georgios N. Koutsocheras, Angeliki Androu, M. Legendre, S. Amselem, R. Borie, B. Crestani, S. Papiris","doi":"10.1183/13993003.congress-2018.pa3020","DOIUrl":"https://doi.org/10.1183/13993003.congress-2018.pa3020","url":null,"abstract":"","PeriodicalId":267660,"journal":{"name":"Rare ILD/DPLD","volume":"95 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2018-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"125272299","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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