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Updated: May 28, 2026
04:44
Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease
Published on: June 16, 2020
[Genetics and pathophysiology of systemic sclerosis].
Yannick Allanore1, Catherine Boileau
1Rhumatologie A, Hôpital Cochin, Université Paris Descartes, Inserm U1016 et APHP, 27, rue du Faubourg Saint-Jacques--75679 Paris cedex 14. yannick.allanore@cch.aphp.fr
Bulletin De L'Academie Nationale De Medecine
|November 2, 2011
Summary
Systemic sclerosis (SSc) is a severe connective tissue disease with complex genetic and autoimmune factors. Research is advancing understanding of its pathogenesis and paving the way for better diagnostics and treatments.
Area of Science:
- Rheumatology and Immunology
- Molecular Biology
- Genetics
Context:
- Systemic sclerosis (SSc) is a rare but severe connective tissue disorder.
- It presents with microangiopathy, immune dysregulation, and excessive collagen deposition.
- SSc poses a significant medical challenge due to limited treatment options.
Purpose:
- To explore the genetic predisposing factors and complex pathogenesis of Systemic sclerosis.
- To review current understanding of genetic associations in SSc, particularly in autoimmunity and the major histocompatibility complex region.
- To highlight the need for further investigation into gene-environment interactions.
Summary:
- Molecular biology advances have identified robust genetic associations with autoimmune factors in SSc.
- The major histocompatibility complex (MHC) genes are crucial, alongside genes involved in innate and adaptive immunity.
- Associations with vascular and fibrotic factors require further replication.
Impact:
- Improved diagnostic and prognostic tools for SSc are expected.
- Development of more specific immune therapies for SSc patients is anticipated.
- Enhanced understanding of SSc pathogenesis may lead to novel therapeutic strategies.
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