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Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease.
Ravell, Juan C; Matsuda-Lennikov, Mami; Chauvin, Samuel D; Zou, Juan; Biancalana, Matthew; Deeb, Sally J; Price, Susan; Su, Helen C; Notarangelo, Giulia; Jiang, Ping; Morawski, Aaron; Kanellopoulou, Chrysi; Binder, Kyle; Mukherjee, Ratnadeep; Anibal, James T; Sellers, Brian; Zheng, Lixin; He, Tingyan; George, Alex B; Pittaluga, Stefania; Powers, Astin; Kleiner, David E; Kapuria, Devika; Ghany, Marc; Hunsberger, Sally; Cohen, Jeffrey I; Uzel, Gulbu; Bergerson, Jenna; Wolfe, Lynne; Toro, Camilo; Gahl, William; Folio, Les R; Matthews, Helen; Angelus, Pam; Chinn, Ivan K; Orange, Jordan S; Trujillo-Vargas, Claudia M; Franco, Jose Luis; Orrego-Arango, Julio; Gutiérrez-Hincapié, Sebastian; Patel, Niraj Chandrakant; Raymond, Kimiyo; Patiroglu, Turkan; Unal, Ekrem; Karakukcu, Musa; Day, Alexandre Gr; Mehta, Pankaj; Masutani, Evan; De Ravin, Suk S; Malech, Harry L.
Afiliación
  • Ravell JC; Molecular Development of the Immune System Section, Laboratory of Immune System Biology, and Clinical Genomics Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, Maryland, USA.
  • Matsuda-Lennikov M; Molecular Development of the Immune System Section, Laboratory of Immune System Biology, and Clinical Genomics Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, Maryland, USA.
  • Chauvin SD; Molecular Development of the Immune System Section, Laboratory of Immune System Biology, and Clinical Genomics Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, Maryland, USA.
  • Zou J; Molecular Development of the Immune System Section, Laboratory of Immune System Biology, and Clinical Genomics Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, Maryland, USA.
  • Biancalana M; Molecular Development of the Immune System Section, Laboratory of Immune System Biology, and Clinical Genomics Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, Maryland, USA.
  • Deeb SJ; Proteomics and Signal Transduction Group and Computational Systems Biochemistry, Max Planck Institute of Biochemistry, Martinsried, Germany.
  • Price S; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, Bethesda, Maryland, USA.
  • Su HC; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, Bethesda, Maryland, USA.
  • Notarangelo G; Molecular Development of the Immune System Section, Laboratory of Immune System Biology, and Clinical Genomics Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, Maryland, USA.
  • Jiang P; Molecular Development of the Immune System Section, Laboratory of Immune System Biology, and Clinical Genomics Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, Maryland, USA.
  • Morawski A; Molecular Development of the Immune System Section, Laboratory of Immune System Biology, and Clinical Genomics Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, Maryland, USA.
  • Kanellopoulou C; Molecular Development of the Immune System Section, Laboratory of Immune System Biology, and Clinical Genomics Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, Maryland, USA.
  • Binder K; Molecular Development of the Immune System Section, Laboratory of Immune System Biology, and Clinical Genomics Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, Maryland, USA.
  • Mukherjee R; Neuroimmunology Branch, National Institute of Neurological Disorders and Stroke (NINDS), Bethesda, Maryland, USA.
  • Anibal JT; Center for Cancer Research, National Cancer Institute (NCI), Bethesda, Maryland, USA.
  • Sellers B; Center for Cancer Research, National Cancer Institute (NCI), Bethesda, Maryland, USA.
  • Zheng L; Trans-NIH Center for Human Immunology, Autoimmunity, and Inflammation, NIH, Bethesda, Maryland, USA.
  • He T; Molecular Development of the Immune System Section, Laboratory of Immune System Biology, and Clinical Genomics Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, Maryland, USA.
  • George AB; Molecular Development of the Immune System Section, Laboratory of Immune System Biology, and Clinical Genomics Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, Maryland, USA.
  • Pittaluga S; Department of Rheumatology and Immunology, Shenzhen Children's Hospital, Shenzhen, China.
  • Powers A; Molecular Development of the Immune System Section, Laboratory of Immune System Biology, and Clinical Genomics Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, Maryland, USA.
  • Kleiner DE; Hematopathology Section, Laboratory of Pathology, NCI, Bethesda, Maryland, USA.
  • Kapuria D; Laboratory of Pathology, NCI, Bethesda, Maryland, USA.
  • Ghany M; Laboratory of Pathology, NCI, Bethesda, Maryland, USA.
  • Hunsberger S; Liver Disease Branch, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), Bethesda, Maryland, USA.
  • Cohen JI; Liver Disease Branch, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), Bethesda, Maryland, USA.
  • Uzel G; Biostatistics Research Branch, NIAID.
  • Bergerson J; Medical Virology Section, Laboratory of Infectious Diseases, NIAID.
  • Wolfe L; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, Bethesda, Maryland, USA.
  • Toro C; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, Bethesda, Maryland, USA.
  • Gahl W; National Human Genome Research Institute, and.
  • Folio LR; National Human Genome Research Institute, and.
  • Matthews H; National Human Genome Research Institute, and.
  • Angelus P; Radiology and Imaging Sciences, Clinical Center, NIH, Bethesda, Maryland, USA.
  • Chinn IK; Molecular Development of the Immune System Section, Laboratory of Immune System Biology, and Clinical Genomics Program, Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), Bethesda, Maryland, USA.
  • Orange JS; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, Bethesda, Maryland, USA.
  • Trujillo-Vargas CM; Clinical Monitoring Research Program Directorate, Frederick National Laboratory for Cancer Research, NCI, NIH, Bethesda, Maryland, USA.
  • Franco JL; Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, USA.
  • Orrego-Arango J; Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, USA.
  • Gutiérrez-Hincapié S; Grupo de Inmunodeficiencias Primarias, Facultad de Medicina, Universidad de Antioquia UdeA, Medellin, Colombia.
  • Patel NC; Grupo de Inmunodeficiencias Primarias, Facultad de Medicina, Universidad de Antioquia UdeA, Medellin, Colombia.
  • Raymond K; Grupo de Inmunodeficiencias Primarias, Facultad de Medicina, Universidad de Antioquia UdeA, Medellin, Colombia.
  • Patiroglu T; Grupo de Inmunodeficiencias Primarias, Facultad de Medicina, Universidad de Antioquia UdeA, Medellin, Colombia.
  • Unal E; Section of Infectious Disease and Immunology, Department of Pediatrics, Carolinas Medical Center, and.
  • Karakukcu M; Levine Children's Hospital Atrium Health, Charlotte, North Carolina, USA.
  • Day AG; Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota, USA.
  • Mehta P; Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
  • Masutani E; Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
  • De Ravin SS; Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey.
  • Malech HL; Department of Physics, Boston University, Boston, Massachusetts, USA.
J Clin Invest ; 130(1): 507-522, 2020 01 02.
Article en En | MEDLINE | ID: mdl-31714901
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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Enfermedades por Inmunodeficiencia Combinada Ligada al Cromosoma X / Síndrome Linfoproliferativo Autoinmune / Deficiencia de Magnesio Límite: Female / Humans / Male Idioma: En Revista: J Clin Invest Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos
Texto completo
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XML
PubMed Links
Buscar en Google

Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Enfermedades por Inmunodeficiencia Combinada Ligada al Cromosoma X / Síndrome Linfoproliferativo Autoinmune / Deficiencia de Magnesio Límite: Female / Humans / Male Idioma: En Revista: J Clin Invest Año: 2020 Tipo del documento: Article País de afiliación: Estados Unidos