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April 5, 2026EBioMedicine0 citationsOpen Access

Exome sequencing enables molecular diagnosis in 10% of early-onset or familial systemic lupus erythematosus cases

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MTMaud TusseauSKSamira Khaldi-PlassartALAudrey Labalme

Key Points

  • This research aims to determine the effectiveness of exome sequencing in diagnosing early-onset and familial systemic lupus erythematosus.
  • Utilized exome sequencing to analyze genetic data.
  • Focused on cases of early-onset and familial systemic lupus erythematosus.
  • Collaborated with multiple research institutions for comprehensive support.
  • Achieved molecular diagnosis in 10% of examined systemic lupus erythematosus cases.
  • Demonstrated the viability of genetic testing in identifying underlying causes.

Abstract

This work was supported by: The Institut National de la Santé et de la Recherche Médicale (INSERM); Government grants managed by the Agence Nationale de la Recherche (ANR) as part of the "Investment for the Future" program: Institut Hospitalo-Universitaire Imagine (ANR-10-IAHU-01), Recherche Hospitalo-Universitaire (ANR-18-RHUS-0010); The Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH); The Fondation pour la Recherche Médicale (FRM: EQU202103012670, FDM202006011291); French and European grants managed by the ANR: ANR-14-CE14-0026 (Lumugène), ANR-21-CE17-0064 (SOCSIMMUNITY); The National Reference Center for Rheumatic, Autoimmune and Systemic Diseases in Children (RAISE).

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Cite This Study

Tusseau et al. (2026) studied this question.

synapsesocial.com/papers/69d1fb20a79560c99a0a1990https://doi.org/10.1016/j.ebiom.2026.106209
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

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