换一批
换一批Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing.
作者：
Mathieu,Fusaro [1]
;
Jérémie,Rosain [2]
;
Virginie,Grandin [3]
;
Nathalie,Lambert [3]
;
Sylvain,Hanein [4]
;
Cécile,Fourrage [5]
;
Nicholas,Renaud [4]
;
Marine,Gil [6]
;
Samuel,Chevalier [3]
;
Wadih Abou,Chahla [7]
;
Brigitte,Bader-Meunier [8]
;
Vincent,Barlogis [9]
;
Stéphane,Blanche [8]
;
David,Boutboul [10]
;
Martin,Castelle [8]
;
Thibault,Comont [11]
;
Jean-Sébastien,Diana [8]
;
Claire,Fieschi [12]
;
Lionel,Galicier [10]
;
Olivier,Hermine [13]
;
Alain,Lefèvre-Utile [14]
;
Marion,Malphettes [10]
;
Etienne,Merlin [15]
;
Eric,Oksenhendler [16]
;
Marlène,Pasquet [17]
;
Felipe,Suarez [18]
;
Isabelle,André [19]
;
Vivien,Béziat [20]
;
Geneviève,De Saint Basile [21]
;
Jean-Pierre,De Villartay [22]
;
Sven,Kracker [19]
;
Chantal,Lagresle-Peyrou [19]
;
Sylvain,Latour [23]
;
Frédéric,Rieux-Laucat [24]
;
Nizar,Mahlaoui [25]
;
Christine,Bole [4]
;
Patrick,Nitschke [26]
;
Elisabeth,Hulier-Ammar [4]
;
Alain,Fischer [27]
;
Despina,Moshous [28]
;
Bénédicte,Neven [29]
;
Alexandre,Alcais [20]
;
Guillaume,Vogt [30]
;
Jacinta,Bustamante [2]
;
Capucine,Picard [31]
作者单位：
University of Paris, Institut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1163, Imagine Institute, Paris, France; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children-Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France; Laboratory of Lymphocyte Activation and Susceptibility to EBV infection, INSERM-UMR 1163, Paris, France.
[1]
University of Paris, Institut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1163, Imagine Institute, Paris, France; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children-Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM-UMR 1163, Paris, France.
[2]
Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children-Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
[3]
INSERM-UMR 1163, Imagine Institute, Paris, France.
[4]
INSERM-UMR 1163, Imagine Institute, Paris, France; Bioinformatics Core Facility, INSERM-UMR 1163, Imagine Institute, Paris, France; Centre National de la Recherche Scientifique, Unité Mixte de Service 3633, INSERM, University of Paris, Paris, France.
[5]
University of Paris, Institut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1163, Imagine Institute, Paris, France.
[6]
Department of Pediatric Hematology, Jeanne de Flandre Hospital, Lille, France.
[7]
Pediatric Immuno-Hematology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France.
[8]
Department of Pediatric Hematology, La Timone Hospital, Marseille, France; French National Reference Center for Primary Immune Deficiencies, Le Centre de Référence Déficits Immunitaires Héréditaires, Necker Hospital for Sick Children, AP-HP, Paris, France.
[9]
Department of Clinical Immunology, St-Louis Hospital, AP-HP, Paris, France.
[10]
Department of Internal Medicine, Institut Universitaire du Cancer-Oncopôle, Toulouse, France.
[11]
French National Reference Center for Primary Immune Deficiencies, Le Centre de Référence Déficits Immunitaires Héréditaires, Necker Hospital for Sick Children, AP-HP, Paris, France; Department of Clinical Immunology, St-Louis Hospital, AP-HP, Paris, France.
[12]
University of Paris, Institut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1163, Imagine Institute, Paris, France; French National Reference Center for Primary Immune Deficiencies, Le Centre de Référence Déficits Immunitaires Héréditaires, Necker Hospital for Sick Children, AP-HP, Paris, France; Department of Adult Hematology, Necker Hospital for Sick Children, AP-HP, Paris, France.
[13]
Pediatric Immuno-Hematology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France; Department of General Pediatrics, Jean Verdier Hospital, AP-HP, Bondy, France.
[14]
Department of Pediatrics, Estaing Hospital, Clermont-Ferrand, France.
[15]
French National Reference Center for Primary Immune Deficiencies, Le Centre de Référence Déficits Immunitaires Héréditaires, Necker Hospital for Sick Children, AP-HP, Paris, France; Department of Clinical Immunology, St-Louis Hospital, AP-HP, Paris, France; Paris Diderot University, Paris, France.
[16]
Pediatric Oncology Immunology Hematology Unit, Children Hospital, Toulouse, France.
[17]
University of Paris, Institut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1163, Imagine Institute, Paris, France; French National Reference Center for Primary Immune Deficiencies, Le Centre de Référence Déficits Immunitaires Héréditaires, Necker Hospital for Sick Children, AP-HP, Paris, France; Department of General Pediatrics, Jean Verdier Hospital, AP-HP, Bondy, France.
[18]
INSERM-UMR 1163, Imagine Institute, Paris, France; Laboratory of Human Lymphohematopoiesis, INSERM-UMR 1163, Paris, France.
[19]
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM-UMR 1163, Paris, France; INSERM-UMR 1163, Imagine Institute, Paris, France.
[20]
University of Paris, Institut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1163, Imagine Institute, Paris, France; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children-Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France; Laboratory of Normal and Pathological Homeostasis of the Immune System, INSERM-UMR 1163, Paris, France.
[21]
INSERM-UMR 1163, Imagine Institute, Paris, France; Laboratory of Genome Dynamics in The Immune System, INSERM-UMR 1163, Paris, France.
[22]
Laboratory of Lymphocyte Activation and Susceptibility to EBV infection, INSERM-UMR 1163, Paris, France; INSERM-UMR 1163, Imagine Institute, Paris, France.
[23]
INSERM-UMR 1163, Imagine Institute, Paris, France; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM-UMR 1163, Paris, France.
[24]
Pediatric Immuno-Hematology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France; French National Reference Center for Primary Immune Deficiencies, Le Centre de Référence Déficits Immunitaires Héréditaires, Necker Hospital for Sick Children, AP-HP, Paris, France.
[25]
INSERM-UMR 1163, Imagine Institute, Paris, France; Bioinformatics Core Facility, INSERM-UMR 1163, Imagine Institute, Paris, France.
[26]
University of Paris, Institut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1163, Imagine Institute, Paris, France; Pediatric Immuno-Hematology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France; French National Reference Center for Primary Immune Deficiencies, Le Centre de Référence Déficits Immunitaires Héréditaires, Necker Hospital for Sick Children, AP-HP, Paris, France; Collège de France, Paris, France.
[27]
University of Paris, Institut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1163, Imagine Institute, Paris, France; Pediatric Immuno-Hematology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France; Laboratory of Genome Dynamics in The Immune System, INSERM-UMR 1163, Paris, France.
[28]
University of Paris, Institut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1163, Imagine Institute, Paris, France; Pediatric Immuno-Hematology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France; Laboratory of Immunogenetics of Pediatric Autoimmune Diseases, INSERM-UMR 1163, Paris, France.
[29]
Neglected Human Genetics Laboratory, INSERM, University of Paris, Paris, France; Institut Sapiens, Paris, France; Neglected Human Genetics Laboratory, Centre National de Recherche en Génomique Humaine-Le Commissariat à L'énergie Atomique et aux Énergies Alternatives, Evry, France.
[30]
University of Paris, Institut National de la Santé et de la Recherche Médicale (INSERM) Unité Mixte de Recherche (UMR) 1163, Imagine Institute, Paris, France; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children-Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France; Laboratory of Lymphocyte Activation and Susceptibility to EBV infection, INSERM-UMR 1163, Paris, France; Pediatric Immuno-Hematology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, Paris, France; French National Reference Center for Primary Immune Deficiencies, Le Centre de Référence Déficits Immunitaires Héréditaires, Necker Hospital for Sick Children, AP-HP, Paris, France.
[31]
主题词
青少年(Adolescent);成年人(Adult);老年人(Aged);儿童(Child);儿童, 学龄前(Child, Preschool);女(雌)性(Female);鸟嘌呤核苷酸交换因子类(Guanine Nucleotide Exchange Factors);高通量核苷酸序列分析(High-Throughput Nucleotide Sequencing);人类(Humans);I-κB激酶(I-kappa B Kinase);免疫球蛋白类(Immunoglobulins);婴儿(Infant);婴儿, 新生(Infant, Newborn);男(雄)性(Male);中年人(Middle Aged);突变(Mutation);青年人(Young Adult)
DOI
10.1016/j.jaci.2020.05.046
PMID
32531373
发布时间
2021-08-06
- 浏览2
The Journal of allergy and clinical immunology
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