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

doi:10.1016/j.ebiom.2026.106209

Article

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

EBioMedicine - 1 Apr 2026

Tusseau Maud, Khaldi-Plassart Samira, Labalme Audrey, Mathieu Anne-Laure, Riller Quentin, Molitor Corentin, Simonet Thomas, Viel Sebastien, Gaboriaud Christine, Thielens Nicole, Heiser Lionel, Chopin Emilie, Rouvet Isabelle, Fabien Nicole, Goncalves David, Fremeaux-Bacchi Véronique, El-Sissy Carine, Pottier Nicolas, Larrue Romain, Ranchin Bruno, Laurent Audrey, Fouillet-Desjonqueres Marine, Jouret Maurine, Mekinian Arsène, Yamashita Motoi, Morio Tomohiro, Hachulla Eric, Melki Isabelle, Kone-Paut Isabelle, Ballot Claire, Reumaux Heloise, Pillet Pascal, Harambat Jerome, Richez Christophe, Richer Olivier, Hatchuel Yves, Louillet Ferielle, Lega Jean-Christophe, Durieu Isabelle, Welfringer-Morin Anne, Picard Capucine, Messadi Wassila, Sarrot-Reynauld Françoise, Sanlaville Damien, Bader-Meunier Brigitte, Walzer Thierry, Lesca Gaëtan, Rieux-Laucat Frédéric, Belot Alexandre

Abstract excerpt

BACKGROUND: Systemic lupus erythematosus (SLE) is a chronic, multi-organ autoimmune disease characterised by a highly heterogeneous presentation. Specific genetic variations predispose patients to the disease, and rare monogenic forms caused by single-gene variations have been identified in a small percentage of patients, often with early disease onset. In this study, we used exome sequencing in a large cohort of...

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

Abstract excerpt

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