A novel non-BRICHOS surfactant protein C mutation causing infantile interstitial lung disease is associated with reduced mature SP-C level

C. Delestrain (Creteil, France), S. Blanchon (Toulouse, France), J. Abbal (Toulouse, France), E. Nattes (Creteil, France), A. Aissat (Creteil, France), V. Delattre (Creteil, France), S. Simon (Creteil, France), A. Tarze (Creteil, France), F. Bremont (Toulouse, France), R. Epaud (Creteil, France), P. Fanen (Creteil, France)

Source: International Congress 2018 – Orphan diseases in children
Session: Orphan diseases in children
Session type: Poster Discussion
Number: 633
Disease area: Interstitial lung diseases, Paediatric lung diseases

Congress or journal article abstractSlide presentation

Rating: 0
You must login to grade this presentation.

Share or cite this content

Citations should be made in the following way:
C. Delestrain (Creteil, France), S. Blanchon (Toulouse, France), J. Abbal (Toulouse, France), E. Nattes (Creteil, France), A. Aissat (Creteil, France), V. Delattre (Creteil, France), S. Simon (Creteil, France), A. Tarze (Creteil, France), F. Bremont (Toulouse, France), R. Epaud (Creteil, France), P. Fanen (Creteil, France). A novel non-BRICHOS surfactant protein C mutation causing infantile interstitial lung disease is associated with reduced mature SP-C level. 633

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:
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

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


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

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



Surfactant protein C mutations in sporadic forms of idiopathic interstitial pneumonias
Source: Eur Respir J 2007; 29: 134-137
Year: 2007



Increased intraalveolar level of soluble endothelial protein C receptor in patients with interstitial lung disease
Source: Eur Respir J 2004; 24: Suppl. 48, 319s
Year: 2004

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


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



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



Loss of structural integrity and function of surfactant protein D (SP-D) by cystic fibrosis- related proteases
Source: Eur Respir J 2001; 18: Suppl. 33, 537s
Year: 2001

Cellular consequences of uncharacterized surfactant protein-A2 (SFTPA2)-gene mutations associated with familial IPF and lung cancer
Source: International Congress 2019 – Pathogenesis and prognosis of interstitial lung disease of known origin
Year: 2019



Interstitial lung disease related surfactant protein-C mutations alter the transcriptome and progenitor cell function of alveolar epithelial cells in mice
Source: International Congress 2019 – Translational aspects of idiopathic interstitial pneumonia
Year: 2019

NHLRC2 mRNA and protein expression in idiopathic pulmonary fibrosis
Source: Virtual Congress 2021 – Translational and other aspects of idiopathic interstitial pneumonia
Year: 2021


Mutations in SFTPC, SFTPA2 and TERT explain 60% of familial pulmonary fibrosis and correlate to specific disease phenotypes
Source: Annual Congress 2011 - Genetic and molecular background in pulmonary fibrosis
Year: 2011

Surfactant protein C mutations and familial pulmonary fibrosis: stuck in a loop on the scenic route
Source: Eur Respir J, 59 (1) 2102147; 10.1183/13993003.02147-2021
Year: 2022



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


Methylprednisolone pulse treatment influences splicing of SFTPC mRNA and promotes processing of pro-SP-C protein in twins with SFTPC mutation
Source: International Congress 2018 – Orphan diseases in children
Year: 2018


FK506-binding protein 11, a novel plasma cell specific antibody folding catalyst, is increased in idiopathic pulmonary fibrosis
Source: Virtual Congress 2020 – Novel immunopathological mechanisms of lung disease: knowledge from translational studies
Year: 2020


SP-C deficiency: Three different phenotypes for the same mutation
Source: International Congress 2015 – Paediatric bronchology
Year: 2015

Pediatric interstitial lung disease caused by a novel ABCA3 mutation: ABCA3G964A
Source: Annual Congress 2009 - Cell biology of lung disease
Year: 2009