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A New Variant in CTLA4 Highlights the Heterogeneous Phenotype of CTLA4 Haploinsufficiency.

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Title: A New Variant in CTLA4 Highlights the Heterogeneous Phenotype of CTLA4 Haploinsufficiency.
Authors: Sormani J; Internal Medicine Department, Lyon-Sud Hospital, Hospices Civils de Lyon, Oullins-Pierre-Bénite, France. jonathan.sormani@chu-lyon.fr.; Centre International de Recherche en Infectiologie, Inserm, U1111, CNRS, UMR5308, École Normale Supérieure de Lyon, Lyon, France. jonathan.sormani@chu-lyon.fr., 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, Pediatric Nephrology, Rheumatology, Dermatology Unit, Hospices Civils de Lyon, Mother and Children University Hospital, Lyon, France., Nove-Josserand R; Internal Medicine Department, Lyon-Sud Hospital, Hospices Civils de Lyon, Oullins-Pierre-Bénite, France., Picard C; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hopitaux de Paris (AP-HP), Université de Paris cité, Paris, France., Rosain J; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hopitaux de Paris (AP-HP), Université de Paris cité, Paris, France., Villard M; Centre International de Recherche en Infectiologie, Inserm, U1111, CNRS, UMR5308, École Normale Supérieure de Lyon, Lyon, France.; Bank of Tissues and Cells, Hôpital Edouard Herriot, Hospices Civils de Lyon, Lyon, France., Viel S; Centre International de Recherche en Infectiologie, Inserm, U1111, CNRS, UMR5308, École Normale Supérieure de Lyon, Lyon, France.; Bank of Tissues and Cells, Hôpital Edouard Herriot, Hospices Civils de Lyon, Lyon, France., Ouachee-Chardin M; Department of Hematology, Institute of Pediatric Hematology and Oncology (IHOPe), and University Claude Bernard, 1 place du Pr Joseph Renault - 69008, Lyon, France., Mercier E; National Referee Centre for Pediatric-Onset Rheumatism and Autoimmune Diseases, Pediatric Nephrology, Rheumatology, Dermatology Unit, Hospices Civils de Lyon, Mother and Children University Hospital, Lyon, France., Giannoli C; Histocompatibility Lab, Etablissement Français du Sang (EFS), Décines, France., Moskovtchenko P; Histocompatibility Lab, Etablissement Français du Sang (EFS), Décines, France., Rabeyrin M; Department of Pathology, Institute de Pathologie Multisite, Groupement Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France., Balme B; Department of Pathology, Institute de Pathologie Multisite, Groupement Hospitalier Sud, Hospices Civils de Lyon, Oullins-Pierre-Bénite, France., Durieu I; Internal Medicine Department, Lyon-Sud Hospital, Hospices Civils de Lyon, Oullins-Pierre-Bénite, France.; Research on Healthcare Performance (REHSAPE), INSERM U1290, Université Claude Bernard Lyon 1, Lyon, France., Mathieu AL; Centre International de Recherche en Infectiologie, Inserm, U1111, CNRS, UMR5308, École Normale Supérieure de Lyon, Lyon, France., Reynaud Q; Internal Medicine Department, Lyon-Sud Hospital, Hospices Civils de Lyon, Oullins-Pierre-Bénite, France.; Research on Healthcare Performance (REHSAPE), INSERM U1290, Université Claude Bernard Lyon 1, Lyon, France.
Source: Journal of clinical immunology [J Clin Immunol] 2025 Nov 12; Vol. 45 (1), pp. 159. Date of Electronic Publication: 2025 Nov 12.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Springer Country of Publication: Netherlands NLM ID: 8102137 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-2592 (Electronic) Linking ISSN: 02719142 NLM ISO Abbreviation: J Clin Immunol Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A New Variant in CTLA4 Highlights the Heterogeneous Phenotype of CTLA4 Haploinsufficiency.
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  Data: <searchLink fieldCode="AU" term="%22Sormani+J%22">Sormani J</searchLink>; Internal Medicine Department, Lyon-Sud Hospital, Hospices Civils de Lyon, Oullins-Pierre-Bénite, France. jonathan.sormani@chu-lyon.fr.; Centre International de Recherche en Infectiologie, Inserm, U1111, CNRS, UMR5308, École Normale Supérieure de Lyon, Lyon, France. jonathan.sormani@chu-lyon.fr.<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, Pediatric Nephrology, Rheumatology, Dermatology Unit, Hospices Civils de Lyon, Mother and Children University Hospital, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Nove-Josserand+R%22">Nove-Josserand R</searchLink>; Internal Medicine Department, Lyon-Sud Hospital, Hospices Civils de Lyon, Oullins-Pierre-Bénite, France.<br /><searchLink fieldCode="AU" term="%22Picard+C%22">Picard C</searchLink>; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hopitaux de Paris (AP-HP), Université de Paris cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Rosain+J%22">Rosain J</searchLink>; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique-Hopitaux de Paris (AP-HP), Université de Paris cité, Paris, France.<br /><searchLink fieldCode="AU" term="%22Villard+M%22">Villard M</searchLink>; Centre International de Recherche en Infectiologie, Inserm, U1111, CNRS, UMR5308, École Normale Supérieure de Lyon, Lyon, France.; Bank of Tissues and Cells, Hôpital Edouard Herriot, Hospices Civils de Lyon, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Viel+S%22">Viel S</searchLink>; Centre International de Recherche en Infectiologie, Inserm, U1111, CNRS, UMR5308, École Normale Supérieure de Lyon, Lyon, France.; Bank of Tissues and Cells, Hôpital Edouard Herriot, Hospices Civils de Lyon, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Ouachee-Chardin+M%22">Ouachee-Chardin M</searchLink>; Department of Hematology, Institute of Pediatric Hematology and Oncology (IHOPe), and University Claude Bernard, 1 place du Pr Joseph Renault - 69008, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Mercier+E%22">Mercier E</searchLink>; National Referee Centre for Pediatric-Onset Rheumatism and Autoimmune Diseases, Pediatric Nephrology, Rheumatology, Dermatology Unit, Hospices Civils de Lyon, Mother and Children University Hospital, Lyon, France.<br /><searchLink fieldCode="AU" term="%22Giannoli+C%22">Giannoli C</searchLink>; Histocompatibility Lab, Etablissement Français du Sang (EFS), Décines, France.<br /><searchLink fieldCode="AU" term="%22Moskovtchenko+P%22">Moskovtchenko P</searchLink>; Histocompatibility Lab, Etablissement Français du Sang (EFS), Décines, France.<br /><searchLink fieldCode="AU" term="%22Rabeyrin+M%22">Rabeyrin M</searchLink>; Department of Pathology, Institute de Pathologie Multisite, Groupement Groupement Hospitalier Est, Hospices Civils de Lyon, Bron, France.<br /><searchLink fieldCode="AU" term="%22Balme+B%22">Balme B</searchLink>; Department of Pathology, Institute de Pathologie Multisite, Groupement Hospitalier Sud, Hospices Civils de Lyon, Oullins-Pierre-Bénite, France.<br /><searchLink fieldCode="AU" term="%22Durieu+I%22">Durieu I</searchLink>; Internal Medicine Department, Lyon-Sud Hospital, Hospices Civils de Lyon, Oullins-Pierre-Bénite, France.; Research on Healthcare Performance (REHSAPE), INSERM U1290, Université Claude Bernard Lyon 1, 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.<br /><searchLink fieldCode="AU" term="%22Reynaud+Q%22">Reynaud Q</searchLink>; Internal Medicine Department, Lyon-Sud Hospital, Hospices Civils de Lyon, Oullins-Pierre-Bénite, France.; Research on Healthcare Performance (REHSAPE), INSERM U1290, Université Claude Bernard Lyon 1, Lyon, France.
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  Data: <searchLink fieldCode="JN" term="%228102137%22">Journal of clinical immunology</searchLink> [J Clin Immunol] 2025 Nov 12; Vol. 45 (1), pp. 159. <i>Date of Electronic Publication: </i>2025 Nov 12.
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