Source: Eur Respir J 2011; 38: 985-987
Disease area: Interstitial lung diseases



Rating:

Share or cite this content

Citations should be made in the following way:
Rossi F.P., Salerno T., Peca D., Danhaive O., Boldrini R., Menchini L., Cutrera R.. Interstitial lung disease in a child heterozygous for the 1549C?GAA (121ins2) mutation of surfactant protein B. Eur Respir J 2011; 38: 985-987

Member's Comments

No comment yet.

Related content which might interest you: Interstitial lung disease in a baby with a de novo mutation in the SFTPC gene Source: Eur Respir J 2004; 24: 30-39 Year: 2004 Familial interstitial lung disease and ABCA3 gene Gly964Asp mutation Source: Annual Congress 2010 - Pathogenesis of diffuse parenchymal lung disease Year: 2010 Alveolar type 2 cell dysfunction from expression of a surfactant protein C (SFTPC) mutation drives a fibrotic lung phenotype in mice Source: International Congress 2017 – Cellular signalling pathways in pulmonary fibrosis Year: 2017 A novel non-BRICHOS surfactant protein C mutation causing infantile interstitial lung disease is associated with reduced mature SP-C level Source: International Congress 2018 – Orphan diseases in children Year: 2018 Pediatric interstitial lung disease caused by a novel ABCA3 mutation: ABCA3G964A Source: Annual Congress 2009 - Cell biology of lung disease Year: 2009 Role of ABCA3 in paediatric interstitial lung disease associated with surfactant protein C gene mutations Source: Annual Congress 2009 - Genetics of lung diseases Year: 2009 Intersitial lung disease in chlidren with mutation in the  SFTPC and SFPTB gene: A two case report Source: International Congress 2017 – Pulmonary infection and inflammation Year: 2017 SP-C deficiency: Three different phenotypes for the same mutation Source: International Congress 2015 – Paediatric bronchology Year: 2015 Surfactant protein C G100S mutation causes familial pulmonary fibrosis in Japanese kindred Source: Eur Respir J 2011; 38: 861-869 Year: 2011 Oral presentation: Surfactant protein-B 121ins2 heterozygosity, reduced pulmonary function and COPD in smokers Source: Lung Science Conference 2010 - Biology of gene-environment interactions in the lung Year: 2010 Progressive lung disease caused by ABCA3 mutation Source: Virtual Congress 2020 – From the bronchoscope to the clinic: paediatric bronchology at a glance Year: 2020 SFTPA mutations in interstitial lung disease (ILD) and lung cancer Source: International Congress 2017 – Rare diseases Year: 2017 Surfactant protein C mutations in sporadic forms of idiopathic interstitial pneumonias Source: Eur Respir J 2007; 29: 134-137 Year: 2007 Surfactant protein gene A, B, and D marker alleles in chronic obstructive pulmonary disease of a Mexican population Source: Eur Respir J 2001; 18: 482-490 Year: 2001 First heterozygous NOP10 mutation in familial pulmonary fibrosis Source: Eur Respir J, 55 (6) 1902465; 10.1183/13993003.02465-2019 Year: 2020 Bi-allelic missense ABCA3 mutations in a patient with childhood ILD who reached adulthood Source: ERJ Open Res, 5 (3) 00066-2019; 10.1183/23120541.00066-2019 Year: 2019 Impaired pulmonary status in cystic fibrosis adults with two mutated MBL-2 alleles Source: Eur Respir J 2004; 24 : 798-804 Year: 2004 Pulmonary alveolar proteinosis due to heterozygous mutation in OAS1: Treatment of a novel disease with whole lung lavages and stem cell transplantation Source: International Congress 2019 – New insights into childhood infections: from viral bronchiolitis to bronchiolitis obliterans Year: 2019 Pulmonary fibrosis in non-mutation carriers of families with short telomere syndrome gene mutations. Source: Virtual Congress 2021 – Genetics and translational aspects of idiopathic pulmonary fibrosis Year: 2021 Old and novel surfactant protein C (SP-C) mutations in children Source: Annual Congress 2011 - Rare diffuse lung diseases Year: 2011