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Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus.

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Title: Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus.
Authors: Jeanpierre M; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Imagine Institute, Université Paris Cité, INSERM UMR 1163 , Paris, France, IHU-Imagine, Université de Paris, Paris, France., Cognard J; Centre International de Recherche en Infectiologie, Inserm, U1111, CNRS, UMR5308, École Normale Supérieure de Lyon , Lyon, France., Tusseau M; Centre International de Recherche en Infectiologie, Inserm, U1111, CNRS, UMR5308, École Normale Supérieure de Lyon , Lyon, France.; Department of Medical Genetics, Hospices Civils de Lyon, Bron, France., Riller Q; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Imagine Institute, Université Paris Cité, INSERM UMR 1163 , Paris, France, IHU-Imagine, Université de Paris, Paris, France., Bui LC; Université Paris Cité, CNRS, Unité de Biologie Fonctionnelle et Adaptative , Paris, France., Berthelet J; Université Paris Cité, CNRS, Epigenetics and Cell Fate , Paris, France., Laurent A; National Referee Centre for Pediatric-Onset Rheumatism and Autoimmune Diseases, Hospices Civils de Lyon, Pediatric Nephrology, Rheumatology, Dermatology Unit, Mother and Children University Hospital ; Lyon, France., Crickx E; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Imagine Institute, Université Paris Cité, INSERM UMR 1163 , Paris, France, IHU-Imagine, Université de Paris, Paris, France.; Service de Médecine Interne, Centre National de Référence des Cytopénies Auto-immunes de L'adulte, Hôpital Henri Mondor, Fédération Hospitalo-Universitaire TRUE InnovaTive TheRapy for ImmUne disordErs, Assistance Publique Hôpitaux de Paris, Université Paris Est Créteil , Créteil, France., Parlato M; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Imagine Institute, Université Paris Cité, INSERM UMR 1163 , Paris, France, IHU-Imagine, Université de Paris, Paris, France., Stolzenberg MC; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Imagine Institute, Université Paris Cité, INSERM UMR 1163 , Paris, France, IHU-Imagine, Université de Paris, Paris, France., Suarez F; Department of Adult Hematology, Necker-Enfants Malades University Hospital and Centre de Référence des déficits Immunitaires Héréditaires, Assistance Publique Hôpitaux de Paris, INSERM U1163, Imagine Institute, Université Paris Cité, Paris, France., Leverger G; Sorbonne Université, INSERM, Centre de Recherche Saint-Antoine, UMR_S938, Assistance Publique Hôpitaux de Paris, Groupe Hospitalier Sorbonne Université, Hôpital Armand Trousseau , Paris, France., Aladjidi N; Centre de Référence National des Cytopénies Auto-immunes de l'Enfant , Bordeaux, France.; Pediatric Oncology Hemato-Immunology Unit, University Hospital, Plurithématique Centre d'Investigation Clinique, 1401, INSERM , Bordeaux, France., Collardeau-Frachon S; Institute of Pathology, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, Université Claude Bernard Lyon 1 , Lyon, France.; Société Française de Foetopathologie Paris , Paris, France., Pietrement C; Centre Hospitalier Universitaire de Reims, Service de Pédiatrie Spécialisée et Généralisée, Université Reims Champagne Ardenne , Reims, France., Malphettes M; Service d'Immunopathologie Clinique, Saint Louis Hospital, Assistance Publique Hôpitaux de Paris , Paris, France., Froissart A; Service Médecine Interne, Hôpital Intercommunal de Créteil , Créteil, France., Bole-Feysot C; Genomic Platform, INSERM UMR 1163, Imagine Institute, University Paris Cité , Paris, France., Cagnard N; Bioinformatic Platform, INSERM UMR 1163, Imagine Institute, University Paris Cité , Paris, France., Rodrigues Lima F; Université Paris Cité, CNRS, Unité de Biologie Fonctionnelle et Adaptative , Paris, France., Walzer T; Centre International de Recherche en Infectiologie, Inserm, U1111, CNRS, UMR5308, École Normale Supérieure de Lyon , Lyon, France., Rieux-Laucat F; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Imagine Institute, Université Paris Cité, INSERM UMR 1163 , Paris, France, IHU-Imagine, Université de Paris, Paris, France., Belot A; Centre International de Recherche en Infectiologie, Inserm, U1111, CNRS, UMR5308, École Normale Supérieure de Lyon , Lyon, France.; National Referee Centre for Pediatric-Onset Rheumatism and Autoimmune Diseases, Hospices Civils de Lyon, Pediatric Nephrology, Rheumatology, Dermatology Unit, Mother and Children University Hospital ; Lyon, France., Mathieu AL; Centre International de Recherche en Infectiologie, Inserm, U1111, CNRS, UMR5308, École Normale Supérieure de Lyon , Lyon, France.
Source: The Journal of experimental medicine [J Exp Med] 2024 Sep 02; Vol. 221 (9). Date of Electronic Publication: 2024 Jul 19.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Rockefeller University Press Country of Publication: United States NLM ID: 2985109R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1540-9538 (Electronic) Linking ISSN: 00221007 NLM ISO Abbreviation: J Exp Med Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Haploinsufficiency in PTPN2 leads to early-onset systemic autoimmunity from Evans syndrome to lupus.
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  Data: <searchLink fieldCode="AU" term="%22Jeanpierre+M%22">Jeanpierre M</searchLink>; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Imagine Institute, Université Paris Cité, INSERM UMR 1163 , Paris, France, IHU-Imagine, Université de Paris, Paris, France.<br /><searchLink fieldCode="AU" term="%22Cognard+J%22">Cognard J</searchLink>; Centre International de Recherche en Infectiologie, Inserm, U1111, CNRS, UMR5308, École Normale Supérieure de Lyon , Lyon, France.<br /><searchLink fieldCode="AU" term="%22Tusseau+M%22">Tusseau M</searchLink>; Centre International de Recherche en Infectiologie, Inserm, U1111, CNRS, UMR5308, École Normale Supérieure de Lyon , Lyon, France.; Department of Medical Genetics, Hospices Civils de Lyon, Bron, France.<br /><searchLink fieldCode="AU" term="%22Riller+Q%22">Riller Q</searchLink>; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Imagine Institute, Université Paris Cité, INSERM UMR 1163 , Paris, France, IHU-Imagine, Université de Paris, Paris, France.<br /><searchLink fieldCode="AU" term="%22Bui+LC%22">Bui LC</searchLink>; Université Paris Cité, CNRS, Unité de Biologie Fonctionnelle et Adaptative , Paris, France.<br /><searchLink fieldCode="AU" term="%22Berthelet+J%22">Berthelet J</searchLink>; Université Paris Cité, CNRS, Epigenetics and Cell Fate , Paris, France.<br /><searchLink fieldCode="AU" term="%22Laurent+A%22">Laurent A</searchLink>; National Referee Centre for Pediatric-Onset Rheumatism and Autoimmune Diseases, Hospices Civils de Lyon, Pediatric Nephrology, Rheumatology, Dermatology Unit, Mother and Children University Hospital ; Lyon, France.<br /><searchLink fieldCode="AU" term="%22Crickx+E%22">Crickx E</searchLink>; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Imagine Institute, Université Paris Cité, INSERM UMR 1163 , Paris, France, IHU-Imagine, Université de Paris, Paris, France.; Service de Médecine Interne, Centre National de Référence des Cytopénies Auto-immunes de L'adulte, Hôpital Henri Mondor, Fédération Hospitalo-Universitaire TRUE InnovaTive TheRapy for ImmUne disordErs, Assistance Publique Hôpitaux de Paris, Université Paris Est Créteil , Créteil, France.<br /><searchLink fieldCode="AU" term="%22Parlato+M%22">Parlato M</searchLink>; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Imagine Institute, Université Paris Cité, INSERM UMR 1163 , Paris, France, IHU-Imagine, Université de Paris, Paris, France.<br /><searchLink fieldCode="AU" term="%22Stolzenberg+MC%22">Stolzenberg MC</searchLink>; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Imagine Institute, Université Paris Cité, INSERM UMR 1163 , Paris, France, IHU-Imagine, Université de Paris, Paris, France.<br /><searchLink fieldCode="AU" term="%22Suarez+F%22">Suarez F</searchLink>; Department of Adult Hematology, Necker-Enfants Malades University Hospital and Centre de Référence des déficits Immunitaires Héréditaires, Assistance Publique Hôpitaux de Paris, INSERM U1163, Imagine Institute, Université Paris Cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Leverger+G%22">Leverger G</searchLink>; Sorbonne Université, INSERM, Centre de Recherche Saint-Antoine, UMR_S938, Assistance Publique Hôpitaux de Paris, Groupe Hospitalier Sorbonne Université, Hôpital Armand Trousseau , Paris, France.<br /><searchLink fieldCode="AU" term="%22Aladjidi+N%22">Aladjidi N</searchLink>; Centre de Référence National des Cytopénies Auto-immunes de l'Enfant , Bordeaux, France.; Pediatric Oncology Hemato-Immunology Unit, University Hospital, Plurithématique Centre d'Investigation Clinique, 1401, INSERM , Bordeaux, France.<br /><searchLink fieldCode="AU" term="%22Collardeau-Frachon+S%22">Collardeau-Frachon S</searchLink>; Institute of Pathology, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, Université Claude Bernard Lyon 1 , Lyon, France.; Société Française de Foetopathologie Paris , Paris, France.<br /><searchLink fieldCode="AU" term="%22Pietrement+C%22">Pietrement C</searchLink>; Centre Hospitalier Universitaire de Reims, Service de Pédiatrie Spécialisée et Généralisée, Université Reims Champagne Ardenne , Reims, France.<br /><searchLink fieldCode="AU" term="%22Malphettes+M%22">Malphettes M</searchLink>; Service d'Immunopathologie Clinique, Saint Louis Hospital, Assistance Publique Hôpitaux de Paris , Paris, France.<br /><searchLink fieldCode="AU" term="%22Froissart+A%22">Froissart A</searchLink>; Service Médecine Interne, Hôpital Intercommunal de Créteil , Créteil, France.<br /><searchLink fieldCode="AU" term="%22Bole-Feysot+C%22">Bole-Feysot C</searchLink>; Genomic Platform, INSERM UMR 1163, Imagine Institute, University Paris Cité , Paris, France.<br /><searchLink fieldCode="AU" term="%22Cagnard+N%22">Cagnard N</searchLink>; Bioinformatic Platform, INSERM UMR 1163, Imagine Institute, University Paris Cité , Paris, France.<br /><searchLink fieldCode="AU" term="%22Rodrigues+Lima+F%22">Rodrigues Lima F</searchLink>; Université Paris Cité, CNRS, Unité de Biologie Fonctionnelle et Adaptative , Paris, France.<br /><searchLink fieldCode="AU" term="%22Walzer+T%22">Walzer T</searchLink>; Centre International de Recherche en Infectiologie, Inserm, U1111, CNRS, UMR5308, École Normale Supérieure de Lyon , Lyon, France.<br /><searchLink fieldCode="AU" term="%22Rieux-Laucat+F%22">Rieux-Laucat F</searchLink>; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, Imagine Institute, Université Paris Cité, INSERM UMR 1163 , Paris, France, IHU-Imagine, Université de Paris, Paris, France.<br /><searchLink fieldCode="AU" term="%22Belot+A%22">Belot A</searchLink>; Centre International de Recherche en Infectiologie, Inserm, U1111, CNRS, UMR5308, École Normale Supérieure de Lyon , Lyon, France.; National Referee Centre for Pediatric-Onset Rheumatism and Autoimmune Diseases, Hospices Civils de Lyon, Pediatric Nephrology, Rheumatology, Dermatology Unit, Mother and Children University Hospital ; Lyon, France.<br /><searchLink fieldCode="AU" term="%22Mathieu+AL%22">Mathieu AL</searchLink>; Centre International de Recherche en Infectiologie, Inserm, U1111, CNRS, UMR5308, École Normale Supérieure de Lyon , Lyon, France.
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