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Defective glycosylation and multisystem abnormalities characterize the primary immunodeficiency XMEN disease.

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第一作者: Juan C,Ravell
第一单位: 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.
作者单位: 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. [1] Proteomics and Signal Transduction Group and Computational Systems Biochemistry, Max Planck Institute of Biochemistry, Martinsried, Germany. [2] Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, Bethesda, Maryland, USA. [3] 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.;Neuroimmunology Branch, National Institute of Neurological Disorders and Stroke (NINDS), Bethesda, Maryland, USA. [4] Center for Cancer Research, National Cancer Institute (NCI), Bethesda, Maryland, USA. [5] Trans-NIH Center for Human Immunology, Autoimmunity, and Inflammation, NIH, Bethesda, Maryland, USA. [6] 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.;Department of Rheumatology and Immunology, Shenzhen Children's Hospital, Shenzhen, China. [7] Hematopathology Section, Laboratory of Pathology, NCI, Bethesda, Maryland, USA. [8] Laboratory of Pathology, NCI, Bethesda, Maryland, USA. [9] Liver Disease Branch, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), Bethesda, Maryland, USA. [10] Biostatistics Research Branch, NIAID. [11] Medical Virology Section, Laboratory of Infectious Diseases, NIAID. [12] National Human Genome Research Institute, and. [13] Radiology and Imaging Sciences, Clinical Center, NIH, Bethesda, Maryland, USA. [14] Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, Bethesda, Maryland, USA.;Clinical Monitoring Research Program Directorate, Frederick National Laboratory for Cancer Research, NCI, NIH, Bethesda, Maryland, USA. [15] Texas Children's Hospital, Baylor College of Medicine, Houston, Texas, USA. [16] Grupo de Inmunodeficiencias Primarias, Facultad de Medicina, Universidad de Antioquia UdeA, Medellin, Colombia. [17] Section of Infectious Disease and Immunology, Department of Pediatrics, Carolinas Medical Center, and.;Levine Children's Hospital Atrium Health, Charlotte, North Carolina, USA. [18] Biochemical Genetics Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota, USA. [19] Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey. [20] Department of Physics, Boston University, Boston, Massachusetts, USA. [21]
DOI 10.1172/JCI131116
PMID 31714901
发布时间 2024-06-15
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The Journal of clinical investigation

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