Dramatic improvement by macrolides in surfactant deficiency with ABCA3 mutation

H. Corvol, F. Flamein, R. Epaud, B. Fauroux, A. Clement (Paris, France)

Source: Annual Congress 2009 - Sarcoidosis and profiles of other diffuse parenchymal lung disease
Session: Sarcoidosis and profiles of other diffuse parenchymal lung disease
Session type: E-Communication Session
Number: 3141
Disease area: Interstitial lung diseases, Paediatric lung diseases

Congress or journal article abstractE-poster

Rating: 0
You must login to grade this presentation.

Share or cite this content

Citations should be made in the following way:
H. Corvol, F. Flamein, R. Epaud, B. Fauroux, A. Clement (Paris, France). Dramatic improvement by macrolides in surfactant deficiency with ABCA3 mutation. Eur Respir J 2009; 34: Suppl. 53, 3141

You must login to share this Presentation/Article on Twitter, Facebook, LinkedIn or by email.

Member's Comments

No comment yet.
You must Login to comment this presentation.


Related content which might interest you:
Progressive lung disease caused by ABCA3 mutation
Source: Virtual Congress 2020 – From the bronchoscope to the clinic: paediatric bronchology at a glance
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



ABCA3 deficiency in a newborn with respiratory failure
Source: International Congress 2017 – Paediatric bronchology in clinical practice
Year: 2017


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

A new mutation of surfactant protein C gene causing severe respiratory insufficiency and pulmonary fibrosis
Source: Annual Congress 2012 - Paediatric bronchology
Year: 2012


A new SERPINA-1 missense mutation associated with alpha-1 antitrypsin deficiency and bronchiectasis.
Source: International Congress 2017 – Current molecular and genetic understanding of lung diseases
Year: 2017


Familial interstitial lung disease and ABCA3 gene Gly964Asp mutation
Source: Annual Congress 2010 - Pathogenesis of diffuse parenchymal lung disease
Year: 2010


Combined pulmonary fibrosis and emphysema syndrome associated with ABCA3 mutations
Source: Eur Respir J 2014; 43: 638-641
Year: 2013


Phenotype characterisation of TBX4 mutation and deletion carriers with neonatal and paediatric pulmonary hypertension
Source: Eur Respir J, 54 (2) 1801965; 10.1183/13993003.01965-2018
Year: 2019



Interstitial lung disease in a child heterozygous for the 1549C?GAA (121ins2) mutation of surfactant protein B
Source: Eur Respir J 2011; 38: 985-987
Year: 2011


Topical application of gentamicin causes a reduction of sweat ion concentration in cystic fibrosis patients carrying nonsense mutations
Source: Eur Respir J 2001; 18: Suppl. 33, 9s
Year: 2001

Surfactant protein C G100S mutation causes familial pulmonary fibrosis in Japanese kindred
Source: Eur Respir J 2011; 38: 861-869
Year: 2011



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


Homozygous mutations of ARFGAP1 gene in severe sarcoidosis
Source: Virtual Congress 2020 – Genetics and biomarkers for diagnosis and prognosis of granulomatous lung diseases
Year: 2020


Lung disease caused by non-null ABCA3 mutations: long-term follow-up
Source: International Congress 2018 – Pitfalls in the diagnosis and management of rare diffuse parenchymal lung diseases (DPLDs)
Year: 2018

Variable phenotype associated with SP-C gene mutations: fatal case with the I73T mutation
Source: Eur Respir J 2004; 24: 1072-1073
Year: 2004


Structural and clinical characterization of novel missense variants of SERPINA1 gene causing alpha-1 antitrypsin deficiency
Source: International Congress 2019 – Crosstalk in chronic pulmonary diseases
Year: 2019


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

Pulmonary fibrosis associated with TINF2 gene mutation: is somatic reversion required?
Source: Eur Respir J 2014; 44: 270-271
Year: 2014


Pulmonary fibrosis associated with TINF2 gene mutation: is somatic reversion required?
Source: Eur Respir J 2014; 44: 269-270
Year: 2014