default author photo

Bénédicte Neven

University of Paris - Pediatric Immuno-hematology and Rheumatology Department

SCHOLARLY PAPERS

3

DOWNLOADS

297

TOTAL CITATIONS

0

Scholarly Papers (3)

1.

A De Novo Dominant-Negative PSMB8 Mutation Causes Severe CANDLE/PRAAS Due to Arrested Proteasome Biogenesis

Number of pages: 68 Posted: 30 Jul 2025
University of Greifswald - University Medicine Greifswald, Government of the United States of America - Laboratory of Clinical Immunology and Microbiology, University of Greifswald - University Medicine Greifswald, University of Greifswald - University Medicine Greifswald, Government of the United States of America - Laboratory of Clinical Immunology and Microbiology, University of Greifswald - University Medicine Greifswald, University of Greifswald - University Medicine Greifswald, University of Greifswald - University Medicine Greifswald, Government of the United States of America - Laboratory of Clinical Immunology and Microbiology, Government of the United States of America - Laboratory of Clinical Immunology and Microbiology, Government of the United States of America - Laboratory of Clinical Immunology and Microbiology, University of Greifswald - University Medicine Greifswald, University of Greifswald - University Medicine Greifswald, University of Greifswald - University Medicine Greifswald, University of Greifswald - University Medicine Greifswald, Government of the United States of America - Laboratory of Clinical Immunology and Microbiology, Government of the United States of America - National Institute of Allergy and Infectious Diseases, The Joint Pathology Center, Nationwide Children’s Hospital, Nationwide Children’s Hospital, Nationwide Children’s Hospital, Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Independent, Independent, Independent, University of Amsterdam, Leiden University - Department of Nephrology, Leiden University - Leiden University Medical Center (LUMC), Karolinska Institutet, Karolinska University Hospital, Karolinska University Hospital - Pediatric Rheumatology, University of Seville - Hospital Universitario Virgen del Rocío, University of Seville - Hospital Universitario Virgen del Rocío, University of Seville - Hospital Universitario Virgen del Rocío, University of Seville - Hospital Universitario Virgen del Rocío, Grenoble Alpes University Hospital, Grenoble Alpes University Hospital, Independent, Leiden University - Department of Rheumatology, Université Paris Cité, University of Paris - Pediatric Immuno-hematology and Rheumatology Department, University of Greifswald - University Medicine Greifswald, Independent, Government of the United States of America - National Institute of Allergy and Infectious Diseases, Independent, Independent, University of Greifswald - University Medicine Greifswald, University of Greifswald - University Medicine Greifswald and Independent
Downloads 133 (547,695)

Abstract:

Loading...

2.

Bridging the Gap: Registry and Population-Based Perspectives on SOCS1 Insufficiency

Number of pages: 33 Posted: 08 Aug 2024
Saint Antoine Hospital, University of Freiburg, University of Freiburg, University of Freiburg, CHI at Crumlin - Department of Paediatric Immunology, Saint Antoine Hospital, Hospices Civils de Lyon - National Reference Center for Rheumatic, Autoimmune and Systemic Diseases in Children (RAISE), Goethe University Frankfurt, Ludwig-Maximilians-Universität München, Harvard University - Harvard Medical School, Università degli Studi di Genova, Università degli Studi di Genova, Aix-Marseille University, Bordeaux University Hospital - CHU Bordeaux, Johannes Kepler University Linz, Saint Antoine Hospital, Université Paris Cité - Department of Rheumatology, Université Paris Cité, Necker-Enfants Malades Hospital, Baylor University - Texas Children's Hospital, The Chinese University of Hong Kong (CUHK), AP-HP Hôpital Trousseau - French Reference Center for Langerhans Cell Histiocytosis, Heinrich Heine University Dusseldorf, Ghent University - Ghent University Hospital, Ghent University - Ghent University Hospital, Harvard University - Harvard Medical School, University of Southern California, Saint Antoine Hospital, Centre Hospitalier de Saint-Denis, Technische Universität München (TUM), Chang Gung University, Hsinchu MacKay Memorial Hospital, University of Montpellier, University Hospital, Caen, University of Michigan, Centro Hospitalar Universitário de Lisboa Central, Baylor University - Texas Children's Hospital, Heinrich Heine University Dusseldorf, Université Paris Cité, Université Paris Cité, Université Paris Cité, Baylor University - Texas Children's Hospital, Technische Universität München (TUM), Västmanland´s Hospital, Hannover Medical School, Western Ukrainian Specialized Children’s Medical Centre, University of Freiburg, University of Freiburg, University of Freiburg - Institute for Immunodeficiency, University of Freiburg, German Center for Infection Research (DZIF), University of Freiburg, University of Freiburg, University of Paris - Pediatric Immuno-hematology and Rheumatology Department, Université de Paris - Imagine Institute Laboratory of Immunogenetics of Pediatric Autoimmune Diseases and University of Freiburg - Institute for Immunodeficiency
Downloads 131 (554,631)

Abstract:

Loading...

SOCS1 insufficiency, registry, UK biobank, inborn error of immunity, autoimmunity, allergy

3.

Enhanced Inflammatory Signaling Driven by Metabolic Switch in Aicardi-Goutières Syndrome

Number of pages: 75 Posted: 06 Apr 2023
University of Paris - Atip-Avenir Team, University of Paris - Atip-Avenir Team, University of Paris - Atip-Avenir Team, University of Paris - Atip-Avenir Team, University of Paris - Structure Fédérative de Recherche Necker, University of Paris - Atip-Avenir Team, University of Paris - Atip-Avenir Team, University of Paris - Atip-Avenir Team, University of Paris - Atip-Avenir Team, University of Paris - Pediatric Immuno-hematology and Rheumatology Department, University of Paris - Pediatric Immuno-hematology and Rheumatology Department, University of Paris - Pediatric Immuno-hematology and Rheumatology Department, University of Paris - Pediatric Neurology Department, Hospices Civils de Lyon - National Reference Center for Rheumatic, Autoimmune and Systemic Diseases in Children (RAISE), University of Paris - Laboratory of Neurogenetics and Neuroinflammation, University of Paris - Pediatric Immuno-hematology and Rheumatology Department, University of Paris - Laboratory of Neurogenetics and Neuroinflammation, University of Paris - Pediatric Immuno-hematology and Rheumatology Department and University of Paris - Atip-Avenir Team
Downloads 33 (1,277,121)

Abstract:

Loading...

Interferonopathies, Aicardi-Goutières syndrome, HIF1A, metabolic switch, Single-cell RNAseq, IP-10, Type-I IFN