Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

The X chromosome and systemic sclerosis.

Carlo Selmi1, Pietro Invernizzi, M Eric Gershwin

  • 1Division of Rheumatology, Allergy, and Clinical Immunology, University of California, Davis, California 95616, USA.

Current Opinion in Rheumatology
|October 21, 2006
PubMed
Summary

Systemic sclerosis disproportionately affects women due to X chromosome abnormalities. Studies reveal increased X monosomy and skewed inactivation patterns in affected women, suggesting a role in autoimmune disease susceptibility.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Automated high-resolution CT analysis outperforms visual assessment in predicting interstitial lung disease progression in SSc.

Rheumatology (Oxford, England)·2026
Same author

Description and therapy of palmoplantar pustular psoriasis under IL-17A or dual IL-17A/F inhibition.

Journal of autoimmunity·2026
Same author

Combined immunosuppressive therapy in systemic sclerosis-associated interstitial lung disease: Phenotypes matter.

Autoimmunity reviews·2026
Same author

Real-world clinical experience with upadacitinib in a cohort of Italian patients with axial spondyloarthritis.

Frontiers in pharmacology·2026
Same author

Modulation of proinflammatory but not regulatory cytokines by in vitro JAK inhibition in peripheral blood B-cells of patients with psoriatic arthritis.

Journal of dermatological science·2026
Same author

Achievement and Maintenance of Remission with Upadacitinib in Patients with Moderate-to-Severe Rheumatoid Arthritis in Italy: 1-Year Data from UPHOLD, a Prospective Real-World Observational Study.

Rheumatology and therapy·2026

Area of Science:

  • Immunogenetics
  • Rheumatology
  • Autoimmune Diseases

Background:

  • Systemic sclerosis (SSc) exhibits a significant female predominance, common in autoimmune rheumatic diseases.
  • Genetic factors, including X chromosome gene regulation of immune tolerance and fetal microchimerism, are implicated in SSc susceptibility.
  • Recent research focuses on X chromosome abnormalities, such as monosomy rates and inactivation patterns, in the context of autoimmunity.

Purpose of the Study:

  • To review current data on the role of the X chromosome in the development of systemic sclerosis.
  • To discuss the implications of X chromosome abnormalities in SSc pathogenesis and autoimmunity.

Main Methods:

  • Review of recent experimental data and genetic studies.
  • Analysis of X chromosome abnormalities (monosomy rates, inactivation patterns) in women with SSc.

Related Experiment Videos

  • Comparison of peripheral blood cell findings between SSc patients and healthy controls.

    • Main Results:

    • Women with SSc show a higher frequency of X monosomic cells in their peripheral blood compared to age-matched healthy women.
    • A significantly skewed X chromosome inactivation pattern is observed in women diagnosed with systemic sclerosis.

    Conclusions:

    • The observed X chromosome abnormalities in SSc patients support their role in breaking immune tolerance.
    • These findings contribute to understanding the complex etiopathogenesis of systemic sclerosis and other female-predominant autoimmune diseases.
    • The study highlights novel avenues for investigating the genetic underpinnings of SSc.