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2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency.

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Title: 2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency.
Authors: Brakta C; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, EU, France., Tabet AC; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, EU, France., Puel M; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, EU, France., Pacault M; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, EU, France., Stolzenberg MC; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, UMR 1163, Imagine Institute, INSERM, Paris, EU, France.; Inserm U1163, Imagine Institute, University of Paris Cité, Paris, Paris, EU, France., Goudet C; Pediatric Hematology Department, Timone Enfant, Assistance Publique Hôpitaux de Marseille (AP-HM), Marseille, EU, France., Merger M; Department of Internal Medicine and Clinical Immunology, University of Lille, Lille, EU, France., Reumaux H; Pediatric Rheumatology Unit, Jeanne de Flandre Hospital, University of Lille, Lille, EU, France., Lambert N; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, EU, France., Alioua N; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, EU, France., Malan V; Inserm U1163, Imagine Institute, University of Paris Cité, Paris, Paris, EU, France.; Laboratory of Genomic Medicine for Rare Diseases, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, EU, France., Hanein S; Bioinformatic Platform, Institute of Genetic Diseases, Université Paris-Cité and Structure Fédérative de Recherche Necker, INSERM UMR1163, Imagine, Paris, EU, France., Dupin-Deguine D; Medical Genetics Department, University of Toulouse, CHU Purpan, Toulouse, EU, France.; Otoneurosurgery and Pediatric ENT Department, University of Toulouse, CHU Purpan, Toulouse, EU, France., Treiner E; Faculty of Medicine, University Toulouse III Paul Sabatier, Toulouse, France.; Laboratory of Immunology, University Hospital of Toulouse, Toulouse, France.; Toulouse Institute for Infectious and Inflammatory Diseases (Infinity), Inserm UMR1291, Toulouse, EU, France., Lefèvre G; Institute for Translational Research in Inflammation (INFINITE), Inserm U1286, University of Lille, Lille, EU, France.; Laboratory of Immunology, University of Lille, Lille, EU, France., Farhat MM; Department of Internal Medicine and Clinical Immunology, University of Lille, Lille, EU, France., Luca LE; Department of Internal Medicine, Infectious and Tropical Diseases, University Hospital Center of Poitiers, Poitiers, EU, France., Hureaux M; Department of Genetics, Georges-Pompidou European Hospital, AP-HP, Paris, EU, France.; Reference Center for Hereditary Kidney Diseases in Children and Adults (MARHEA), University of Paris Cité, Paris, EU, France., Li H; Inserm U1163, Imagine Institute, University of Paris Cité, Paris, Paris, EU, France.; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Necker Branch, Inserm U1163, Paris, EU, France., Chelloug N; Medical Genetics Department, University of Toulouse, CHU Purpan, Toulouse, EU, France., Dehak R; Department of Pediatrics, Calais Hospital, Calais, EU, France., Boussion S; Clinical Genetics Department, University of Lille, Lille, EU, France., Ouachée-Chardin M; Department of Pediatric Hematology, IHOPe, Hospices Civils de Lyon, Lyon, EU, France., Schleinitz N; Department of Internal Medicine La Timone, Aix-Marseille University, Assistance Publique - AP-HM, Marseille, EU, France., Abou Chahla W; Department of Pediatric Hematology, Jeanne de Flandre Hospital, University of Lille, Lille, EU, France., Barlogis V; Pediatric Hematology Department, Timone Enfant, Assistance Publique Hôpitaux de Marseille (AP-HM), Marseille, EU, France., Vély F; Aix Marseille Université, CNRS, Inserm, Centre d'Immunologie de Marseille-Luminy, Marseille, EU, France.; Departement of Immunology, Assistance Publique Des Hôpitaux de Marseille, Hôpital de La Timone, Marseille Immunopole, Marseille, EU, France., Oksenhendler E; Clinical Immunology Department, Saint-Louis Hospital, Paris-Diderot University, Paris, EU, France., Quartier P; Pediatric Immunology-Hematology and Rheumatology Unit, Necker-Enfants Malades University Hospital, AP-HP, Paris, EU, France.; Université Paris-Cité, Paris, EU, France., Pasquet M; Department of Pediatric Hematology and Immunology, Children's Hospital, University Hospital, Toulouse, EU, France., Suarez F; Université Paris-Cité, Paris, EU, France.; Department of Clinical Hematology, Necker Hospital for Sick Children, AP-HP, Paris, EU, France.; Centre de Référence Des Déficits Immunitaires Héréditaires (CEREDIH), Necker-Enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, EU, France., Bustamante J; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, EU, France.; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Necker Branch, Inserm U1163, Paris, EU, France.; Université Paris-Cité, Paris, EU, France.; St.Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, Rockefeller Branch, New York, NY, USA., Neven B; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, UMR 1163, Imagine Institute, INSERM, Paris, EU, France.; Inserm U1163, Imagine Institute, University of Paris Cité, Paris, Paris, EU, France.; Pediatric Immunology-Hematology and Rheumatology Unit, Necker-Enfants Malades University Hospital, AP-HP, Paris, EU, France.; Université Paris-Cité, Paris, EU, France., Picard C; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, EU, France.; Université Paris-Cité, Paris, EU, France.; Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, Inserm U1163, Imagine Institute, Paris, EU, France.; Centre de Référence Des Déficits Immunitaires Héréditaires (CEREDIH), Necker-Enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, EU, France., Rieux-Laucat F; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, UMR 1163, Imagine Institute, INSERM, Paris, EU, France.; Inserm U1163, Imagine Institute, University of Paris Cité, Paris, Paris, EU, France., Lévy J; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, EU, France., Rosain J; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, EU, France. jeremie.rosain@institutimagine.org.; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Necker Branch, Inserm U1163, Paris, EU, France. jeremie.rosain@institutimagine.org.; Université Paris-Cité, Paris, EU, France. jeremie.rosain@institutimagine.org.; St.Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, Rockefeller Branch, New York, NY, USA. jeremie.rosain@institutimagine.org.
Source: Journal of clinical immunology [J Clin Immunol] 2024 Nov 23; Vol. 45 (1), pp. 46. Date of Electronic Publication: 2024 Nov 23.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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: 2q33 Deletions Underlying Syndromic and Non-syndromic CTLA4 Deficiency.
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  Label: Authors
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  Data: <searchLink fieldCode="AU" term="%22Brakta+C%22">Brakta C</searchLink>; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, EU, France.<br /><searchLink fieldCode="AU" term="%22Tabet+AC%22">Tabet AC</searchLink>; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, EU, France.<br /><searchLink fieldCode="AU" term="%22Puel+M%22">Puel M</searchLink>; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, EU, France.<br /><searchLink fieldCode="AU" term="%22Pacault+M%22">Pacault M</searchLink>; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, EU, France.<br /><searchLink fieldCode="AU" term="%22Stolzenberg+MC%22">Stolzenberg MC</searchLink>; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, UMR 1163, Imagine Institute, INSERM, Paris, EU, France.; Inserm U1163, Imagine Institute, University of Paris Cité, Paris, Paris, EU, France.<br /><searchLink fieldCode="AU" term="%22Goudet+C%22">Goudet C</searchLink>; Pediatric Hematology Department, Timone Enfant, Assistance Publique Hôpitaux de Marseille (AP-HM), Marseille, EU, France.<br /><searchLink fieldCode="AU" term="%22Merger+M%22">Merger M</searchLink>; Department of Internal Medicine and Clinical Immunology, University of Lille, Lille, EU, France.<br /><searchLink fieldCode="AU" term="%22Reumaux+H%22">Reumaux H</searchLink>; Pediatric Rheumatology Unit, Jeanne de Flandre Hospital, University of Lille, Lille, EU, France.<br /><searchLink fieldCode="AU" term="%22Lambert+N%22">Lambert N</searchLink>; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, EU, France.<br /><searchLink fieldCode="AU" term="%22Alioua+N%22">Alioua N</searchLink>; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, EU, France.<br /><searchLink fieldCode="AU" term="%22Malan+V%22">Malan V</searchLink>; Inserm U1163, Imagine Institute, University of Paris Cité, Paris, Paris, EU, France.; Laboratory of Genomic Medicine for Rare Diseases, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, EU, France.<br /><searchLink fieldCode="AU" term="%22Hanein+S%22">Hanein S</searchLink>; Bioinformatic Platform, Institute of Genetic Diseases, Université Paris-Cité and Structure Fédérative de Recherche Necker, INSERM UMR1163, Imagine, Paris, EU, France.<br /><searchLink fieldCode="AU" term="%22Dupin-Deguine+D%22">Dupin-Deguine D</searchLink>; Medical Genetics Department, University of Toulouse, CHU Purpan, Toulouse, EU, France.; Otoneurosurgery and Pediatric ENT Department, University of Toulouse, CHU Purpan, Toulouse, EU, France.<br /><searchLink fieldCode="AU" term="%22Treiner+E%22">Treiner E</searchLink>; Faculty of Medicine, University Toulouse III Paul Sabatier, Toulouse, France.; Laboratory of Immunology, University Hospital of Toulouse, Toulouse, France.; Toulouse Institute for Infectious and Inflammatory Diseases (Infinity), Inserm UMR1291, Toulouse, EU, France.<br /><searchLink fieldCode="AU" term="%22Lefèvre+G%22">Lefèvre G</searchLink>; Institute for Translational Research in Inflammation (INFINITE), Inserm U1286, University of Lille, Lille, EU, France.; Laboratory of Immunology, University of Lille, Lille, EU, France.<br /><searchLink fieldCode="AU" term="%22Farhat+MM%22">Farhat MM</searchLink>; Department of Internal Medicine and Clinical Immunology, University of Lille, Lille, EU, France.<br /><searchLink fieldCode="AU" term="%22Luca+LE%22">Luca LE</searchLink>; Department of Internal Medicine, Infectious and Tropical Diseases, University Hospital Center of Poitiers, Poitiers, EU, France.<br /><searchLink fieldCode="AU" term="%22Hureaux+M%22">Hureaux M</searchLink>; Department of Genetics, Georges-Pompidou European Hospital, AP-HP, Paris, EU, France.; Reference Center for Hereditary Kidney Diseases in Children and Adults (MARHEA), University of Paris Cité, Paris, EU, France.<br /><searchLink fieldCode="AU" term="%22Li+H%22">Li H</searchLink>; Inserm U1163, Imagine Institute, University of Paris Cité, Paris, Paris, EU, France.; 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Department of Pediatric Hematology, Jeanne de Flandre Hospital, University of Lille, Lille, EU, France.<br /><searchLink fieldCode="AU" term="%22Barlogis+V%22">Barlogis V</searchLink>; Pediatric Hematology Department, Timone Enfant, Assistance Publique Hôpitaux de Marseille (AP-HM), Marseille, EU, France.<br /><searchLink fieldCode="AU" term="%22Vély+F%22">Vély F</searchLink>; Aix Marseille Université, CNRS, Inserm, Centre d'Immunologie de Marseille-Luminy, Marseille, EU, France.; Departement of Immunology, Assistance Publique Des Hôpitaux de Marseille, Hôpital de La Timone, Marseille Immunopole, Marseille, EU, France.<br /><searchLink fieldCode="AU" term="%22Oksenhendler+E%22">Oksenhendler E</searchLink>; Clinical Immunology Department, Saint-Louis Hospital, Paris-Diderot University, Paris, EU, France.<br /><searchLink fieldCode="AU" term="%22Quartier+P%22">Quartier P</searchLink>; Pediatric Immunology-Hematology and Rheumatology Unit, Necker-Enfants Malades University Hospital, AP-HP, Paris, EU, France.; Université Paris-Cité, Paris, EU, France.<br /><searchLink fieldCode="AU" term="%22Pasquet+M%22">Pasquet M</searchLink>; Department of Pediatric Hematology and Immunology, Children's Hospital, University Hospital, Toulouse, EU, France.<br /><searchLink fieldCode="AU" term="%22Suarez+F%22">Suarez F</searchLink>; Université Paris-Cité, Paris, EU, France.; Department of Clinical Hematology, Necker Hospital for Sick Children, AP-HP, Paris, EU, France.; Centre de Référence Des Déficits Immunitaires Héréditaires (CEREDIH), Necker-Enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, EU, France.<br /><searchLink fieldCode="AU" term="%22Bustamante+J%22">Bustamante J</searchLink>; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, EU, France.; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Necker Branch, Inserm U1163, Paris, EU, France.; Université Paris-Cité, Paris, EU, France.; St.Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, Rockefeller Branch, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Neven+B%22">Neven B</searchLink>; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, UMR 1163, Imagine Institute, INSERM, Paris, EU, France.; Inserm U1163, Imagine Institute, University of Paris Cité, Paris, Paris, EU, France.; Pediatric Immunology-Hematology and Rheumatology Unit, Necker-Enfants Malades University Hospital, AP-HP, Paris, EU, France.; Université Paris-Cité, Paris, EU, France.<br /><searchLink fieldCode="AU" term="%22Picard+C%22">Picard C</searchLink>; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, EU, France.; Université Paris-Cité, Paris, EU, France.; Laboratory of Lymphocyte Activation and Susceptibility to EBV Infection, Inserm U1163, Imagine Institute, Paris, EU, France.; Centre de Référence Des Déficits Immunitaires Héréditaires (CEREDIH), Necker-Enfants Malades Hospital, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, EU, France.<br /><searchLink fieldCode="AU" term="%22Rieux-Laucat+F%22">Rieux-Laucat F</searchLink>; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, UMR 1163, Imagine Institute, INSERM, Paris, EU, France.; Inserm U1163, Imagine Institute, University of Paris Cité, Paris, Paris, EU, France.<br /><searchLink fieldCode="AU" term="%22Lévy+J%22">Lévy J</searchLink>; Genetics Department, AP-HP, Robert-Debré University Hospital, Paris, EU, France.<br /><searchLink fieldCode="AU" term="%22Rosain+J%22">Rosain J</searchLink>; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, Assistance Publique Hôpitaux de Paris (AP-HP), Paris, EU, France. jeremie.rosain@institutimagine.org.; Laboratory of Human Genetics of Infectious Diseases, Necker Hospital for Sick Children, Necker Branch, Inserm U1163, Paris, EU, France. jeremie.rosain@institutimagine.org.; Université Paris-Cité, Paris, EU, France. jeremie.rosain@institutimagine.org.; St.Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller University, Rockefeller Branch, New York, NY, USA. jeremie.rosain@institutimagine.org.
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