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

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Title: Exome sequencing enables molecular diagnosis in 10% of early-onset or familial systemic lupus erythematosus cases.
Authors: Tusseau M; Genetics Department, Lyon University Hospital, Lyon, France; CIRI, International Center of Research in Infectiology, Lyon University, INSERM U1111, CNRS UMR 5308, ENS, UCBL, Lyon, France., Khaldi-Plassart S; National Reference Center for Rheumatic, Systemic Autoimmune Diseases and Interferonopathies in Children (RAISE), Hospices Civils of Lyon, Lyon, France., Labalme A; Genetics Department, Lyon University Hospital, Lyon, France., Mathieu AL; CIRI, International Center of Research in Infectiology, Lyon University, INSERM U1111, CNRS UMR 5308, ENS, UCBL, Lyon, France., Riller Q; Sorbonne Université, Assistance Publique Hôpitaux de Paris, GHU Sorbonne Site Pitié-Salpêtrière, Service de Médecine Interne 2, Maladies Autoimmunes et Systémiques, Centre de Référence Maladies Auto-Immunes et Auto-inflammatoires Systémiques Rares d'Ile de France, Centre et Martinique, Centre de Référence Histiocytoses, 75651 Paris CEDEX 13, France., Molitor C; Department of Bioinformatics, Hospices Civils de Lyon, France., Simonet T; Department of Bioinformatics, Hospices Civils de Lyon, France., Viel S; Hospices Civils de Lyon, Groupement Hospitalier Centre, Plateforme ARTEMIS, Lyon, France; CIRI, International Center of Research in Infectiology, Lyon University, INSERM U1111, CNRS UMR 5308, ENS, UCBL, Lyon, France., Gaboriaud C; Institute of Structural Biology (IBS), University Grenoble Alpes, CEA, CNRS, F-38000, Grenoble, France., Thielens N; Institute of Structural Biology (IBS), University Grenoble Alpes, CEA, CNRS, F-38000, Grenoble, France., Heiser L; Genetics Department, Lyon University Hospital, Lyon, France., Chopin E; Centre de Biotechnologie Cellulaire and CBC BioTec Biobank, Centre de Ressources Biologiques, Hospices Civils de Lyon, 69229, Lyon, France., Rouvet I; Centre de Biotechnologie Cellulaire and CBC BioTec Biobank, Centre de Ressources Biologiques, Hospices Civils de Lyon, 69229, Lyon, France., Fabien N; Immunology Department, Lyon-Sud Hospital, Hospices Civils de Lyon, 69149, Pierre Bénite, France., Goncalves D; Immunology Department, Lyon-Sud Hospital, Hospices Civils de Lyon, 69149, Pierre Bénite, France., Fremeaux-Bacchi V; Department of Immunology, Assistance Publique- Hôpitaux de Paris (AP-HP), Georges Pompidou European Hospital, Paris, France., El-Sissy C; Department of Immunology, Assistance Publique- Hôpitaux de Paris (AP-HP), Georges Pompidou European Hospital, Paris, France., Pottier N; Univ. Lille, CNRS, Inserm, CHU Lille, Institut Pasteur de Lille, UMR9020-U1277 - CANTHER - Cancer Heterogeneity, Plasticity and Resistance to Therapies, Toxicology and Genetic Diseases Department, Lille, France., Larrue R; Univ. Lille, CNRS, Inserm, CHU Lille, Institut Pasteur de Lille, UMR9020-U1277 - CANTHER - Cancer Heterogeneity, Plasticity and Resistance to Therapies, Toxicology and Genetic Diseases Department, Lille, France., Ranchin B; Pediatric Nephrology Rheumatology Dermatology Unit, Lyon University Hospital, Bron, France., Laurent A; Pediatric Nephrology Rheumatology Dermatology Unit, Lyon University Hospital, Bron, France., Fouillet-Desjonqueres M; Pediatric Nephrology Rheumatology Dermatology Unit, Lyon University Hospital, Bron, France., Jouret M; Pediatric Nephrology Rheumatology Dermatology Unit, Lyon University Hospital, Bron, France., Mekinian A; Department of Internal Medicine, Sorbonne University, Hôpital Saint-Antoine AP-HP, Paris, France., Yamashita M; Laboratory for Transcriptional Regulation, RIKEN Center for Integrative Medical Sciences (IMS), Yokohama, Kanagawa, Japan; Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan., Morio T; Laboratory of Immunology and Molecular Medicine, Advanced Research Initiative, Institute of Science Tokyo, Tokyo, Japan., Hachulla E; Department of Internal Medicine and Clinical Immunology, CHU Lille, Lille, France., Melki I; Department of General Pediatrics, Paediatric Rheumatology Unit, Armand Trousseau Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Sorbonne Université, FHU INFLAMME, Paris, France., Kone-Paut I; Department of Paediatric Rheumatology, Hôpital de Bicêtre, APHP, Le Kremlin Bicêtre, France., Ballot C; Department of Pediatrics, Jean-Minjoz Hospital, Besançon, France., Reumaux H; Department of Pediatric Rheumatology, Hôpital Jeanne de Flandre, CHU Lille, Lille, France., Pillet P; Department of Pediatrics, Pellegrin Hôpital des Enfants, University Hospital of Bordeaux, Bordeaux, France., Harambat J; Department of Pediatrics, Pellegrin Hôpital des Enfants, University Hospital of Bordeaux, Bordeaux, France., Richez C; Service de Rhumatologie, Centre de Référence des Maladies Auto-Immunes Systémiques Rares RESO, Hôpital Pellegrin, Réseau F-Crin CRI-IMIDIATE, & ImmunoConcEpT, CNRS UMR 5164, Université de Bordeaux, Bordeaux, France., Richer O; Department of Pediatrics, Pellegrin Hôpital des Enfants, University Hospital of Bordeaux, Bordeaux, France., Hatchuel Y; Department of General Pediatrics, Martinique University Hospital, Fort-de France, France., Louillet F; Department of Pediatrics, Rouen University Hospital, Rouen, France., Lega JC; Department of Rheumatology, Centre Hospitalier Lyon Sud, Hospices Civils de Lyon, Lyon, France., Durieu I; Department of Internal and Vascular Medicine, Hospices Civils de Lyon, Lyon, France; INSERM U1290, Université Claude Bernard Lyon 1, Lyon., Welfringer-Morin A; Department of Dermatology, Hôpital Necker-Enfants Malades, APHP-Centre, Paris, France., Picard C; Pediatric Hematology-Immunology and Rheumatology Department, Assistance Publique Hôpitaux de Paris (APHP), Necker University Hospital, Paris, France; Study Center for Primary Immunodeficiencies, (APHP), Necker-Enfants Malades Hospital, Université Paris Cité, Paris, France., Messadi W; Department of Pediatrics, University Hospital Center Issaad Hassani, Beni Messous, Alger, Algeria., Sarrot-Reynauld F; Department of Internal Medicine, University Hospital of Grenoble Alpes, Grenoble, France., Sanlaville D; Genetics Department, Lyon University Hospital, Lyon, France., Bader-Meunier B; Pediatric Hematology-Immunology and Rheumatology Department, Assistance Publique Hôpitaux de Paris (APHP), Necker University Hospital, Paris, France., Walzer T; CIRI, International Center of Research in Infectiology, Lyon University, INSERM U1111, CNRS UMR 5308, ENS, UCBL, Lyon, France., Lesca G; Genetics Department, Lyon University Hospital, Lyon, France., Rieux-Laucat F; Université Paris Cité, Immunogenetics of Pediatric Autoimmunity Laboratory, Institut Imagine, INSERM UMR1163, Paris, France., Belot A; CIRI, International Center of Research in Infectiology, Lyon University, INSERM U1111, CNRS UMR 5308, ENS, UCBL, Lyon, France; National Reference Center for Rheumatic, Systemic Autoimmune Diseases and Interferonopathies in Children (RAISE), Hospices Civils of Lyon, Lyon, France; Pediatric Nephrology Rheumatology Dermatology Unit, Lyon University Hospital, Bron, France. Electronic address: alexandre.belot@chu-lyon.fr.
Corporate Authors: GENIAL/LUMUGENE Collaborators
Source: EBioMedicine [EBioMedicine] 2026 Apr; Vol. 126, pp. 106209. Date of Electronic Publication: 2026 Apr 01.
Publication Type: Journal Article
Journal Info: Publisher: Elsevier B.V Country of Publication: Netherlands NLM ID: 101647039 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2352-3964 (Electronic) Linking ISSN: 23523964 NLM ISO Abbreviation: EBioMedicine Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Exome sequencing enables molecular diagnosis in 10% of early-onset or familial systemic lupus erythematosus cases.
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  Data: <searchLink fieldCode="AU" term="%22Tusseau+M%22">Tusseau M</searchLink>; Genetics Department, Lyon University Hospital, Lyon, France; CIRI, International Center of Research in Infectiology, Lyon University, INSERM U1111, CNRS UMR 5308, ENS, UCBL, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Khaldi-Plassart+S%22">Khaldi-Plassart S</searchLink>; National Reference Center for Rheumatic, Systemic Autoimmune Diseases and Interferonopathies in Children (RAISE), Hospices Civils of Lyon, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Labalme+A%22">Labalme A</searchLink>; Genetics Department, Lyon University Hospital, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Mathieu+AL%22">Mathieu AL</searchLink>; CIRI, International Center of Research in Infectiology, Lyon University, INSERM U1111, CNRS UMR 5308, ENS, UCBL, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Riller+Q%22">Riller Q</searchLink>; Sorbonne Université, Assistance Publique Hôpitaux de Paris, GHU Sorbonne Site Pitié-Salpêtrière, Service de Médecine Interne 2, Maladies Autoimmunes et Systémiques, Centre de Référence Maladies Auto-Immunes et Auto-inflammatoires Systémiques Rares d'Ile de France, Centre et Martinique, Centre de Référence Histiocytoses, 75651 Paris CEDEX 13, France.<br /><searchLink fieldCode="AU" term="%22Molitor+C%22">Molitor C</searchLink>; Department of Bioinformatics, Hospices Civils de Lyon, France.<br /><searchLink fieldCode="AU" term="%22Simonet+T%22">Simonet T</searchLink>; Department of Bioinformatics, Hospices Civils de Lyon, France.<br /><searchLink fieldCode="AU" term="%22Viel+S%22">Viel S</searchLink>; Hospices Civils de Lyon, Groupement Hospitalier Centre, Plateforme ARTEMIS, Lyon, France; CIRI, International Center of Research in Infectiology, Lyon University, INSERM U1111, CNRS UMR 5308, ENS, UCBL, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Gaboriaud+C%22">Gaboriaud C</searchLink>; Institute of Structural Biology (IBS), University Grenoble Alpes, CEA, CNRS, F-38000, Grenoble, France.<br /><searchLink fieldCode="AU" term="%22Thielens+N%22">Thielens N</searchLink>; Institute of Structural Biology (IBS), University Grenoble Alpes, CEA, CNRS, F-38000, Grenoble, France.<br /><searchLink fieldCode="AU" term="%22Heiser+L%22">Heiser L</searchLink>; Genetics Department, Lyon University Hospital, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Chopin+E%22">Chopin E</searchLink>; Centre de Biotechnologie Cellulaire and CBC BioTec Biobank, Centre de Ressources Biologiques, Hospices Civils de Lyon, 69229, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Rouvet+I%22">Rouvet I</searchLink>; Centre de Biotechnologie Cellulaire and CBC BioTec Biobank, Centre de Ressources Biologiques, Hospices Civils de Lyon, 69229, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Fabien+N%22">Fabien N</searchLink>; Immunology Department, Lyon-Sud Hospital, Hospices Civils de Lyon, 69149, Pierre Bénite, France.<br /><searchLink fieldCode="AU" term="%22Goncalves+D%22">Goncalves D</searchLink>; Immunology Department, Lyon-Sud Hospital, Hospices Civils de Lyon, 69149, Pierre Bénite, France.<br /><searchLink fieldCode="AU" term="%22Fremeaux-Bacchi+V%22">Fremeaux-Bacchi V</searchLink>; Department of Immunology, Assistance Publique- Hôpitaux de Paris (AP-HP), Georges Pompidou European Hospital, Paris, France.<br /><searchLink fieldCode="AU" term="%22El-Sissy+C%22">El-Sissy C</searchLink>; Department of Immunology, Assistance Publique- Hôpitaux de Paris (AP-HP), Georges Pompidou European Hospital, Paris, France.<br /><searchLink fieldCode="AU" term="%22Pottier+N%22">Pottier N</searchLink>; Univ. Lille, CNRS, Inserm, CHU Lille, Institut Pasteur de Lille, UMR9020-U1277 - CANTHER - Cancer Heterogeneity, Plasticity and Resistance to Therapies, Toxicology and Genetic Diseases Department, Lille, France.<br /><searchLink fieldCode="AU" term="%22Larrue+R%22">Larrue R</searchLink>; Univ. Lille, CNRS, Inserm, CHU Lille, Institut Pasteur de Lille, UMR9020-U1277 - CANTHER - Cancer Heterogeneity, Plasticity and Resistance to Therapies, Toxicology and Genetic Diseases Department, Lille, France.<br /><searchLink fieldCode="AU" term="%22Ranchin+B%22">Ranchin B</searchLink>; Pediatric Nephrology Rheumatology Dermatology Unit, Lyon University Hospital, Bron, France.<br /><searchLink fieldCode="AU" term="%22Laurent+A%22">Laurent A</searchLink>; Pediatric Nephrology Rheumatology Dermatology Unit, Lyon University Hospital, Bron, France.<br /><searchLink fieldCode="AU" term="%22Fouillet-Desjonqueres+M%22">Fouillet-Desjonqueres M</searchLink>; Pediatric Nephrology Rheumatology Dermatology Unit, Lyon University Hospital, Bron, France.<br /><searchLink fieldCode="AU" term="%22Jouret+M%22">Jouret M</searchLink>; Pediatric Nephrology Rheumatology Dermatology Unit, Lyon University Hospital, Bron, France.<br /><searchLink fieldCode="AU" term="%22Mekinian+A%22">Mekinian A</searchLink>; Department of Internal Medicine, Sorbonne University, Hôpital Saint-Antoine AP-HP, Paris, France.<br /><searchLink fieldCode="AU" term="%22Yamashita+M%22">Yamashita M</searchLink>; Laboratory for Transcriptional Regulation, RIKEN Center for Integrative Medical Sciences (IMS), Yokohama, Kanagawa, Japan; Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Morio+T%22">Morio T</searchLink>; Laboratory of Immunology and Molecular Medicine, Advanced Research Initiative, Institute of Science Tokyo, Tokyo, Japan.<br /><searchLink fieldCode="AU" term="%22Hachulla+E%22">Hachulla E</searchLink>; Department of Internal Medicine and Clinical Immunology, CHU Lille, Lille, France.<br /><searchLink fieldCode="AU" term="%22Melki+I%22">Melki I</searchLink>; Department of General Pediatrics, Paediatric Rheumatology Unit, Armand Trousseau Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Sorbonne Université, FHU INFLAMME, Paris, France.<br /><searchLink fieldCode="AU" term="%22Kone-Paut+I%22">Kone-Paut I</searchLink>; Department of Paediatric Rheumatology, Hôpital de Bicêtre, APHP, Le Kremlin Bicêtre, France.<br /><searchLink fieldCode="AU" term="%22Ballot+C%22">Ballot C</searchLink>; Department of Pediatrics, Jean-Minjoz Hospital, Besançon, France.<br /><searchLink fieldCode="AU" term="%22Reumaux+H%22">Reumaux H</searchLink>; Department of Pediatric Rheumatology, Hôpital Jeanne de Flandre, CHU Lille, Lille, France.<br /><searchLink fieldCode="AU" term="%22Pillet+P%22">Pillet P</searchLink>; Department of Pediatrics, Pellegrin Hôpital des Enfants, University Hospital of Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Harambat+J%22">Harambat J</searchLink>; Department of Pediatrics, Pellegrin Hôpital des Enfants, University Hospital of Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Richez+C%22">Richez C</searchLink>; Service de Rhumatologie, Centre de Référence des Maladies Auto-Immunes Systémiques Rares RESO, Hôpital Pellegrin, Réseau F-Crin CRI-IMIDIATE, & ImmunoConcEpT, CNRS UMR 5164, Université de Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Richer+O%22">Richer O</searchLink>; Department of Pediatrics, Pellegrin Hôpital des Enfants, University Hospital of Bordeaux, Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Hatchuel+Y%22">Hatchuel Y</searchLink>; Department of General Pediatrics, Martinique University Hospital, Fort-de France, France.<br /><searchLink fieldCode="AU" term="%22Louillet+F%22">Louillet F</searchLink>; Department of Pediatrics, Rouen University Hospital, Rouen, France.<br /><searchLink fieldCode="AU" term="%22Lega+JC%22">Lega JC</searchLink>; Department of Rheumatology, Centre Hospitalier Lyon Sud, Hospices Civils de Lyon, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Durieu+I%22">Durieu I</searchLink>; Department of Internal and Vascular Medicine, Hospices Civils de Lyon, Lyon, France; INSERM U1290, Université Claude Bernard Lyon 1, Lyon.<br /><searchLink fieldCode="AU" term="%22Welfringer-Morin+A%22">Welfringer-Morin A</searchLink>; Department of Dermatology, Hôpital Necker-Enfants Malades, APHP-Centre, Paris, France.<br /><searchLink fieldCode="AU" term="%22Picard+C%22">Picard C</searchLink>; Pediatric Hematology-Immunology and Rheumatology Department, Assistance Publique Hôpitaux de Paris (APHP), Necker University Hospital, Paris, France; Study Center for Primary Immunodeficiencies, (APHP), Necker-Enfants Malades Hospital, Université Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Messadi+W%22">Messadi W</searchLink>; Department of Pediatrics, University Hospital Center Issaad Hassani, Beni Messous, Alger, Algeria.<br /><searchLink fieldCode="AU" term="%22Sarrot-Reynauld+F%22">Sarrot-Reynauld F</searchLink>; Department of Internal Medicine, University Hospital of Grenoble Alpes, Grenoble, France.<br /><searchLink fieldCode="AU" term="%22Sanlaville+D%22">Sanlaville D</searchLink>; Genetics Department, Lyon University Hospital, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Bader-Meunier+B%22">Bader-Meunier B</searchLink>; Pediatric Hematology-Immunology and Rheumatology Department, Assistance Publique Hôpitaux de Paris (APHP), Necker University Hospital, Paris, France.<br /><searchLink fieldCode="AU" term="%22Walzer+T%22">Walzer T</searchLink>; CIRI, International Center of Research in Infectiology, Lyon University, INSERM U1111, CNRS UMR 5308, ENS, UCBL, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Lesca+G%22">Lesca G</searchLink>; Genetics Department, Lyon University Hospital, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Rieux-Laucat+F%22">Rieux-Laucat F</searchLink>; Université Paris Cité, Immunogenetics of Pediatric Autoimmunity Laboratory, Institut Imagine, INSERM UMR1163, Paris, France.<br /><searchLink fieldCode="AU" term="%22Belot+A%22">Belot A</searchLink>; CIRI, International Center of Research in Infectiology, Lyon University, INSERM U1111, CNRS UMR 5308, ENS, UCBL, Lyon, France; National Reference Center for Rheumatic, Systemic Autoimmune Diseases and Interferonopathies in Children (RAISE), Hospices Civils of Lyon, Lyon, France; Pediatric Nephrology Rheumatology Dermatology Unit, Lyon University Hospital, Bron, France. Electronic address: alexandre.belot@chu-lyon.fr.
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          Name:
            NameFull: Messadi W
      – PersonEntity:
          Name:
            NameFull: Sarrot-Reynauld F
      – PersonEntity:
          Name:
            NameFull: Sanlaville D
      – PersonEntity:
          Name:
            NameFull: Bader-Meunier B
      – PersonEntity:
          Name:
            NameFull: Walzer T
      – PersonEntity:
          Name:
            NameFull: Lesca G
      – PersonEntity:
          Name:
            NameFull: Rieux-Laucat F
      – PersonEntity:
          Name:
            NameFull: Belot A
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 01
              M: 04
              Text: 2026 Apr
              Type: published
              Y: 2026
          Identifiers:
            – Type: issn-electronic
              Value: 2352-3964
          Numbering:
            – Type: volume
              Value: 126
          Titles:
            – TitleFull: EBioMedicine
              Type: main
ResultId 1