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Pulmonary
Diseases

Primary ciliary dyskinesia
Interstitial lung diseases

Interstitial Lung Diseases

Research project
The team
Publications

Selected publications

  1. Brudon, A, Legendre, M, Mageau, A, Bermudez, J, Bonniaud, P, Bouvry, D et al.. High risk of lung cancer in surfactant-related gene variant carriers. Eur Respir J. 2024;63 (5):. doi: 10.1183/13993003.01809-2023. PubMed PMID:38575158 PubMed Central PMC11063619.
  2. Diesler, R, Legendre, M, Si-Mohamed, S, Brillet, PY, Wemeau, L, Manali, ED et al.. Similarities and differences of interstitial lung disease associated with pathogenic variants in SFTPC and ABCA3 in adults. Respirology. 2024;29 (4):312-323. doi: 10.1111/resp.14667. PubMed PMID:38345107 .
  3. Soreze, Y, Nathan, N, Jegard, J, Hervieux, E, Clermidi, P, Sileo, C et al.. Acinar Dysplasia in a Full-Term Newborn with a NKX2.1 Variant. Neonatology. 2024;121 (1):133-136. doi: 10.1159/000534076. PubMed PMID:38035569 .
  4. Bermudez, J, Nathan, N, Coiffard, B, Roux, A, Hirschi, S, Degot, T et al.. Outcome of lung transplantation for adults with interstitial lung disease associated with genetic disorders of the surfactant system. ERJ Open Res. 2023;9 (6):. doi: 10.1183/23120541.00240-2023. PubMed PMID:38020562 PubMed Central PMC10658627.
  5. Cassibba, J, Epaud, R, Berteloot, L, Aberbache, S, Bitton, L, Fletcher, C et al.. The significance of multidisciplinary team meetings in diagnosing and managing childhood interstitial lung disease within the RespiRare network. Pediatr Pulmonol. 2024;59 (2):417-425. doi: 10.1002/ppul.26765. PubMed PMID:37991126 .
  6. Desroziers, T, Prévot, G, Coulomb, A, Nau, V, Dastot-Le Moal, F, Duquesnoy, P et al.. Hypomorphic pathogenic variant in SFTPB leads to adult pulmonary fibrosis. Eur J Hum Genet. 2023;31 (9):1083-1087. doi: 10.1038/s41431-023-01413-w. PubMed PMID:37380697 PubMed Central PMC10474257.
  7. Le Guen, P, Borie, R, Legendre, M, Dupin, C, Dunogeant, L, Ottaviani, S et al.. NKX2.1 mutation revealed by a lymphoid interstitial pneumonia in an adult with rheumatoid arthritis. ERJ Open Res. 2023;9 (3):. doi: 10.1183/23120541.00682-2022. PubMed PMID:37228267 PubMed Central PMC10204795.
  8. Legendre, M, Darde, X, Ferreira, M, Chantot-Bastaraud, S, Campana, M, Plantier, L et al.. The clinical course of interstitial lung disease in an adult patient with an ABCA3 homozygous complex allele under hydroxychloroquine and a review of the literature. Sarcoidosis Vasc Diffuse Lung Dis. 2022;39 (2):e2022019. doi: 10.36141/svdld.v39i2.12730. PubMed PMID:36118545 PubMed Central PMC9437752.
  9. Guffroy, A, Dieudonné, Y, Gies, V, Danion, F, Study group. Complex Allele with Additive Gain-of-Function STING1 Variants in a Patient with Cavitating Lung Lesions and Aspergillosis. J Clin Immunol. 2022;42 (6):1156-1159. doi: 10.1007/s10875-022-01284-8. PubMed PMID:35556195 .
  10. Charbit-Henrion, F, Goguyer-Deschaumes, R, Borensztajn, K, Mirande, M, Berthelet, J, Rodrigues-Lima, F et al.. Systemic inflammatory syndrome in children with FARSA deficiency. Clin Genet. 2022;101 (5-6):552-558. doi: 10.1111/cge.14120. PubMed PMID:35132614 PubMed Central PMC9303323.
  11. Manali, ED, Kannengiesser, C, Borie, R, Ba, I, Bouros, D, Markopoulou, A et al.. Genotype-Phenotype Relationships in Inheritable Idiopathic Pulmonary Fibrosis: A Greek National Cohort Study. Respiration. 2022;101 (6):531-543. doi: 10.1159/000520657. PubMed PMID:35078193 .
  12. Legendre, M, Butt, A, Borie, R, Debray, MP, Bouvry, D, Filhol-Blin, E et al.. Functional assessment and phenotypic heterogeneity of SFTPA1 and SFTPA2 mutations in interstitial lung diseases and lung cancer. Eur Respir J. 2020;56 (6):. doi: 10.1183/13993003.02806-2020. PubMed PMID:32855221 .
  13. Nathan, N, Borensztajn, K, Clement, A. Genetic causes and clinical management of pediatric interstitial lung diseases. Curr Opin Pulm Med. 2018;24 (3):253-259. doi: 10.1097/MCP.0000000000000471. PubMed PMID:29517585 .
  14. Nathan, N, Giraud, V, Picard, C, Nunes, H, Dastot-Le Moal, F, Copin, B et al.. Germline SFTPA1 mutation in familial idiopathic interstitial pneumonia and lung cancer. Hum Mol Genet. 2016;25 (8):1457-67. doi: 10.1093/hmg/ddw014. PubMed PMID:26792177 .

 

You can find more about our scientific publications on https://www.hal.inserm.fr/U933.