Your browser doesn't support javascript.
loading
Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.
Toubiana, Julie; Okada, Satoshi; Hiller, Julia; Oleastro, Matias; Lagos Gomez, Macarena; Aldave Becerra, Juan Carlos; Ouachée-Chardin, Marie; Fouyssac, Fanny; Girisha, Katta Mohan; Etzioni, Amos; Van Montfrans, Joris; Camcioglu, Yildiz; Kerns, Leigh Ann; Belohradsky, Bernd; Blanche, Stéphane; Bousfiha, Aziz; Rodriguez-Gallego, Carlos; Meyts, Isabelle; Kisand, Kai; Reichenbach, Janine; Renner, Ellen D; Rosenzweig, Sergio; Grimbacher, Bodo; van de Veerdonk, Frank L; Traidl-Hoffmann, Claudia; Picard, Capucine; Marodi, Laszlo; Morio, Tomohiro; Kobayashi, Masao; Lilic, Desa; Milner, Joshua D; Holland, Steven; Casanova, Jean-Laurent; Puel, Anne.
Afiliação
  • Toubiana J; Department of General Pediatrics and Pediatric Infectious Diseases, Assistance Publique-Hôpitaux de Paris (AP-HP), Necker-Enfants Malades Hospital, Paris, France; Paris Descartes University, Sorbonne Paris Cité, Institut Imagine, Paris, France; Laboratory of Human Genetics of Infectious Diseases, Ne
  • Okada S; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University, New York, NY; Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima, Japan;
  • Hiller J; Institute of Environmental Medicine, UNIKA-T, Technical University and Helmholtz Center Munich, Augsburg, Germany; Christine Kühne-Center for Allergy Research and Education (CK-CARE), Davos, Switzerland;
  • Oleastro M; Immunology and Reumatholoy Department, Juan Pedro Garrahan National Hospital of Pediatrics, Buenos Aires, Argentina;
  • Lagos Gomez M; Department of Preclinics, School of Medicine, Valparaíso University and Department of Pediatrics, Padre Hurtado-Clinica Alemana de Santiago Hospital, Valparaíso, Chile;
  • Aldave Becerra JC; Allergy and Immunology Division, Edgardo Rebagliati Martins National Hospital, Lima, Peru;
  • Ouachée-Chardin M; Pediatric Hematology-Oncology Unit, AP-HP, Robert Debré Hospital, Paris, France;
  • Fouyssac F; Pediatric Oncology and Hematology Unit, Children Hospital, Vandoeuvre-les-Nancy, France;
  • Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India;
  • Etzioni A; Meyer Children's Hospital, Haifa, Israel;
  • Van Montfrans J; Department of Pediatric Immunology, Hematology and Infectious Diseases, Utrecht University Medical Center, Utrecht, The Netherlands;
  • Camcioglu Y; Department of Pediatrics, Infectious Disease, Clinical Immunology and Allergy Division, Cerrahpasa Medical School, Istanbul University, Istanbul, Turkey;
  • Kerns LA; Division of Pediatric Pulmonology, Allergy, Immunology, and Sleep Medicine, Rainbow Babies and Children's Hospital, Case Medical Center, Cleveland, OH;
  • Belohradsky B; Dr. von Hauner Children's Hospital, Ludwig Maximilian University, Munich, Germany;
  • Blanche S; Paris Descartes University, Sorbonne Paris Cité, Institut Imagine, Paris, France; Pediatric Hematology-Immunology-Rheumatology Unit, AP-HP, Necker-Enfants Malades Hospital, Paris, France;
  • Bousfiha A; Clinical Immunology Unit, Department of Pediatric Infectious Diseases, Ibn Rochd Hospital, King Hassan II University, Casablanca, Morocco;
  • Rodriguez-Gallego C; Department of Immunology, Son Espases University Hospital, Palma de Mallorca, Spain;
  • Meyts I; Department of Pediatrics, Leuven University Hospitals, Leuven, Belgium;
  • Kisand K; Institute of Biomedicine and Translational Medicine, University of Tartu, Tartu, Estonia;
  • Reichenbach J; Division of Immunology, University Children's Hospital and Children's Research Centre, University of Zurich, Zurich, Switzerland;
  • Renner ED; Dr. von Hauner Children's Hospital, Ludwig Maximilian University, Munich, Germany;
  • Rosenzweig S; Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD;
  • Grimbacher B; Center for Chronic Immunodeficiency, Freiburg University Medical Center and University of Freiburg, Freiburg, Germany;
  • van de Veerdonk FL; Department of Internal Medicine, Radboud University Medical Center, Radboud Center for Infectious Diseases, Nijmegen, The Netherlands;
  • Traidl-Hoffmann C; Institute of Environmental Medicine, UNIKA-T, Technical University and Helmholtz Center Munich, Augsburg, Germany; Christine Kühne-Center for Allergy Research and Education (CK-CARE), Davos, Switzerland;
  • Picard C; Paris Descartes University, Sorbonne Paris Cité, Institut Imagine, Paris, France; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Necker Medical School, Paris, France; Pediatric Hematology-Immunology-Rheumatology Unit, AP-HP, Necker-Enfants Malades Hospital, Paris
  • Marodi L; Department of Infectious Diseases and Pediatric Immunology, Faculty of Medicine, University of Debrecen, Debrecen, Hungary;
  • Morio T; Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, Tokyo, Japan;
  • Kobayashi M; Department of Pediatrics, Hiroshima University Graduate School of Biomedical & Health Sciences, Hiroshima, Japan;
  • Lilic D; Primary Immunodeficiency Group, Institute of Cellular Medicine, Newcastle University, Newcastle, United Kingdom;
  • Milner JD; Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD;
  • Holland S; Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD;
  • Casanova JL; Paris Descartes University, Sorbonne Paris Cité, Institut Imagine, Paris, France; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Necker Medical School, Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller U
  • Puel A; Paris Descartes University, Sorbonne Paris Cité, Institut Imagine, Paris, France; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM UMR1163, Necker Medical School, Paris, France; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller U
Blood ; 127(25): 3154-64, 2016 06 23.
Article em En | MEDLINE | ID: mdl-27114460
Assuntos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Candidíase Mucocutânea Crônica / Fator de Transcrição STAT1 / Estudos de Associação Genética / Mutação Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Blood Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Níger
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Candidíase Mucocutânea Crônica / Fator de Transcrição STAT1 / Estudos de Associação Genética / Mutação Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Aged / Child / Child, preschool / Female / Humans / Infant / Male / Middle aged Idioma: En Revista: Blood Ano de publicação: 2016 Tipo de documento: Article País de afiliação: Níger