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HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease.

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作者单位: Molecular Development of the Immune System Section, Laboratory of Immune System Biology, and Clinical Genomics Program, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA. [1] Molecular Development of the Immune System Section, Laboratory of Immune System Biology, and Clinical Genomics Program, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA.;Neomics Pharmaceuticals, LLC, Gaithersburg, MD, USA. [2] Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.;Section of Pediatric Immunology, Allergy, and Retrovirology, Texas Children's Hospital, Houston, TX, USA.;Program of Immunogenetics and Translational Immunology, Instituto de Ciencias e Innovación en Medicina, Facultad de Medicina, Clínica Alemana-Universidad del Desarrollo, Santiago, Chile. [3] Division of Intramural Research, NIAID, NIH, Bethesda, MD, USA. [4] Bioinformatics and Computational Biosciences Branch, Office of Cyber Infrastructure and Computational Biology, NIAID, NIH, Bethesda, MD, USA. [5] Neutrophil Monitoring Laboratory, Leidos Biomedical Research, Inc., Frederick National Laboratory for Cancer Research, Frederick, MD, USA. [6] Roy J. Carver Department of Biochemistry, Biophysics and Molecular Biology, Iowa State University, Ames, IA, USA. [7] Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.;Section of Pediatric Immunology, Allergy, and Retrovirology, Texas Children's Hospital, Houston, TX, USA. [8] Laboratory of Lymphocyte Activation and Susceptibility to EBV, INSERM UMR 1163, Paris, France.;University Paris Descartes Sorbonne Paris Cité, Institut des Maladies Génétiques-IMAGINE, Paris, France. [9] Advanced Mass Spectrometry Facility, National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), NIH, Bethesda, MD, USA. [10] Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, MD, USA. [11] Biological Imaging Section, Research Technologies Branch, NIAID, NIH, Bethesda, MD, USA. [12] Department of Pediatric Hematology, Jeanne de Flandre Hospital, Centre Hospitalier Universitaire (CHU), Lille, France. [13] Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA. [14] Baylor-Hopkins Center for Mendelian Genomics, Houston, TX, USA.;Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. [15] Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.;Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. [16] Baylor-Hopkins Center for Mendelian Genomics, Houston, TX, USA.;Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.;Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. [17] Section of Pediatric Hematology/Oncology/BMT, CancerCare Manitoba, University of Manitoba, Winnipeg, MB, Canada. [18] Sheikh Khalifa Medical City, Abu Dhabi Healthcare Company (SEHA), Abu Dhabi, United Arab Emirates. [19] Division of Allergy and Immunology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.;Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. [20] Division of Allergy, Immunology, Pulmonary, and Sleep Medicine, Children's Mercy Hospital, Kansas City, MO, USA.;Department of Internal Medicine and Pediatrics, University of Missouri Kansas City, Kansas City, MO, USA. [21] Section of Pulmonary, Critical Care, Allergy and Immunological Diseases, Wake Forest University School of Medicine, Winston-Salem, NC, USA. [22] Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia Research Institute and Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.;Department of Pathology, Anatomy, and Cell Biology, Thomas Jefferson University, Philadelphia, PA, USA. [23] Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia Research Institute and Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. [24] Molecular Development of the Immune System Section, Laboratory of Immune System Biology, and Clinical Genomics Program, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, USA. lenardo@nih.gov. [25]
DOI 10.1126/science.aay5663
PMID 32647003
发布时间 2024-08-11
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