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Clinical and immunologic phenotype associated with activated phosphoinositide 3-kinase δ syndrome 2: A cohort study.
Elkaim, Elodie; Neven, Benedicte; Bruneau, Julie; Mitsui-Sekinaka, Kanako; Stanislas, Aurelie; Heurtier, Lucie; Lucas, Carrie L; Matthews, Helen; Deau, Marie-Céline; Sharapova, Svetlana; Curtis, James; Reichenbach, Janine; Glastre, Catherine; Parry, David A; Arumugakani, Gururaj; McDermott, Elizabeth; Kilic, Sara Sebnem; Yamashita, Motoi; Moshous, Despina; Lamrini, Hicham; Otremba, Burkhard; Gennery, Andrew; Coulter, Tanya; Quinti, Isabella; Stephan, Jean-Louis; Lougaris, Vassilios; Brodszki, Nicholas; Barlogis, Vincent; Asano, Takaki; Galicier, Lionel; Boutboul, David; Nonoyama, Shigeaki; Cant, Andrew; Imai, Kohsuke; Picard, Capucine; Nejentsev, Sergey; Molina, Thierry Jo; Lenardo, Michael; Savic, Sinisa; Cavazzana, Marina; Fischer, Alain; Durandy, Anne; Kracker, Sven.
Afiliação
  • Elkaim E; Department of Pediatric Immunology, Hematology and Rheumatology, AP-HP, Necker Children's Hospital, Paris, France; INSERM UMR1163, Paris, France.
  • Neven B; Department of Pediatric Immunology, Hematology and Rheumatology, AP-HP, Necker Children's Hospital, Paris, France; INSERM UMR1163, Paris, France; Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France.
  • Bruneau J; Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France; Department of Pathology, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, France.
  • Mitsui-Sekinaka K; Department of Pediatrics, National Defense Medical College, Saitama, Japan.
  • Stanislas A; Départment de Biothérapie, Centre d'Investigation Clinique intégré en Biothérapies, Necker Children's Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
  • Heurtier L; INSERM UMR1163, Paris, France; Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France.
  • Lucas CL; Laboratory of Immunology, Molecular Development of the Immune System Section, NIAID Clinical Genomics Program, NIAID, NIH, Bethesda, Md.
  • Matthews H; Laboratory of Immunology, Molecular Development of the Immune System Section, NIAID Clinical Genomics Program, NIAID, NIH, Bethesda, Md.
  • Deau MC; INSERM UMR1163, Paris, France; Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France.
  • Sharapova S; Belarusian Research Center for Pediatric Oncology, Hematology and Immunology, Minsk, Belarus.
  • Curtis J; Department of Medicine, University of Cambridge, Cambridge, United Kingdom.
  • Reichenbach J; Division of Immunology, University Children's Hospital Zurich, Children's Research Center, Competence Center for Applied Biotechnology and Molecular Medicine and the Swiss Center for Regenerative Medicine, University Zurich, Zurich, Switzerland.
  • Glastre C; Service de Pédiatrie, Centre Hospitalier Annecy Genevois, Metz-Tessy, France.
  • Parry DA; Centre for Genomic & Experimental Medicine, Institute of Genetics & Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom.
  • Arumugakani G; Department of Clinical Immunology and Allergy, St James's University Hospital, Leeds, United Kingdom.
  • McDermott E; Nottingham University Hospitals, Nottingham, United Kingdom.
  • Kilic SS; Pediatric Immunology Division, Uludag University Medical Faculty, Department of Pediatrics, Bursa, Turkey.
  • Yamashita M; Department of Pediatrics and Developmental Biology, School of Medicine, Tokyo Medical and Dental University, Tokyo, Japan.
  • Moshous D; Department of Pediatric Immunology, Hematology and Rheumatology, AP-HP, Necker Children's Hospital, Paris, France; INSERM UMR1163, Paris, France; Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France.
  • Lamrini H; INSERM UMR1163, Paris, France; Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France.
  • Otremba B; Oncological Practice Oldenburg/Delmenhorst, Oldenburg, Germany.
  • Gennery A; Institute of Cellular Medicine, Paediatric Immunology Department, Great North Children's Hospital, Newcastle upon Tyne, United Kingdom.
  • Coulter T; Department of Immunology, School of Medicine, Trinity College Dublin, St James's Hospital, Dublin, Ireland; Department of Pediatric Immunology and Infectious Diseases, Our Lady's Children's Hospital Crumlin, Dublin, Ireland.
  • Quinti I; Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy.
  • Stephan JL; Department of Pediatric, Hôpital Nord, Saint-Etienne, France.
  • Lougaris V; Pediatrics Clinic and Institute for Molecular Medicine A. Nocivelli, Department of Clinical and Experimental Sciences, University of Brescia, Spedali Civili di Brescia, Brescia, Italy.
  • Brodszki N; Children's Hospital, Skåne University Hospital, Lund, Sweden.
  • Barlogis V; Service d'Hématologie Pédiatrique, Marseille, France.
  • Asano T; Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima, Japan.
  • Galicier L; Clinical Immunology Department, Hôpital Saint Louis, Assistance Publique Hôpitaux de Paris, Université Paris Diderot, Paris, France.
  • Boutboul D; Clinical Immunology Department, Hôpital Saint Louis, Assistance Publique Hôpitaux de Paris, Université Paris Diderot, Paris, France.
  • Nonoyama S; Department of Pediatrics, National Defense Medical College, Saitama, Japan.
  • Cant A; Institute of Cellular Medicine, Paediatric Immunology Department, Great North Children's Hospital, Newcastle upon Tyne, United Kingdom.
  • Imai K; Department of Pediatrics, National Defense Medical College, Saitama, Japan; Department of Pediatrics, Tokyo Medical and Dental University, Tokyo, Japan.
  • Picard C; INSERM UMR1163, Paris, France; Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France; Study Center for Primary Immunodeficiencies, Assistance Publique Hôpitaux de Paris, Necker Hospital, Paris, France.
  • Nejentsev S; Department of Medicine, University of Cambridge, Cambridge, United Kingdom.
  • Molina TJ; Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France; Department of Pathology, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, France.
  • Lenardo M; Laboratory of Immunology, Molecular Development of the Immune System Section, NIAID Clinical Genomics Program, NIAID, NIH, Bethesda, Md.
  • Savic S; Centre for Genomic & Experimental Medicine, Institute of Genetics & Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom; National Institute for Health Research-Leeds Musculoskeletal Biomedical Research Unit (NIHR-LMBRU) and Leeds Institute of Rheu
  • Cavazzana M; INSERM UMR1163, Paris, France; Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France; Départment de Biothérapie, Centre d'Investigation Clinique intégré en Biothérapies, Necker Children's Hospital, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris, France.
  • Fischer A; Department of Pediatric Immunology, Hematology and Rheumatology, AP-HP, Necker Children's Hospital, Paris, France; INSERM UMR1163, Paris, France; Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France; Collège de France, Paris, France.
  • Durandy A; INSERM UMR1163, Paris, France; Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France.
  • Kracker S; INSERM UMR1163, Paris, France; Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France. Electronic address: sven.kracker@inserm.fr.
J Allergy Clin Immunol ; 138(1): 210-218.e9, 2016 07.
Article em En | MEDLINE | ID: mdl-27221134
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Classe I de Fosfatidilinositol 3-Quinases / Síndromes de Imunodeficiência Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: J Allergy Clin Immunol Ano de publicação: 2016 Tipo de documento: Article País de afiliação: França País de publicação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Classe I de Fosfatidilinositol 3-Quinases / Síndromes de Imunodeficiência Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Risk_factors_studies Limite: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male / Middle aged Idioma: En Revista: J Allergy Clin Immunol Ano de publicação: 2016 Tipo de documento: Article País de afiliação: França País de publicação: Estados Unidos