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Scalable generation and functional classification of genetic variants in inborn errors of immunity to accelerate clinical diagnosis and treatment.

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第一作者： Zachary H,Walsh

第一单位： Columbia University Vagelos College of Physicians and Surgeons, New York, NY, USA; Department of Medicine, Division of Hematology and Oncology, Columbia University Irving Medical Center, New York, NY, USA; Columbia Center for Translational Immunology, New York, NY, USA; Herbert Irving Comprehensive Cancer Center, Columbia University Irving Medical Center, New York, NY, USA.

作者： Zachary H,Walsh ^[1] ; Chris J,Frangieh ^[1] ; Neeharika,Kothapalli ^[1] ; Jay,Levy ^[2] ; Clarissa K,Heck ^[1] ; Johannes C,Melms ^[1] ; Ron S,Gejman ^[1] ; Parin,Shah ^[3] ; Jared M,Pollard ^[4] ; Akul,Naik ^[4] ; Sarah L,Grauman ^[4] ; Lei Haley,Huang ^[2] ; Ashley,Lee ^[2] ; Dusan,Bogunovic ^[2] ; Joshua D,Milner ^[5] ; Benjamin,Izar ^[6]

作者单位： Columbia University Vagelos College of Physicians and Surgeons, New York, NY, USA; Department of Medicine, Division of Hematology and Oncology, Columbia University Irving Medical Center, New York, NY, USA; Columbia Center for Translational Immunology, New York, NY, USA; Herbert Irving Comprehensive Cancer Center, Columbia University Irving Medical Center, New York, NY, USA. ^[1] Department of Pediatrics, Columbia University Irving Medical Center, New York, NY. ^[2] Department of Medicine, Division of Hematology and Oncology, Columbia University Irving Medical Center, New York, NY, USA; Columbia Center for Translational Immunology, New York, NY, USA; Herbert Irving Comprehensive Cancer Center, Columbia University Irving Medical Center, New York, NY, USA. ^[3] Columbia University Vagelos College of Physicians and Surgeons, New York, NY, USA. ^[4] Department of Pediatrics, Columbia University Irving Medical Center, New York, NY. Electronic address: jdm2249@cumc.columbia.edu. ^[5] Columbia University Vagelos College of Physicians and Surgeons, New York, NY, USA; Department of Medicine, Division of Hematology and Oncology, Columbia University Irving Medical Center, New York, NY, USA; Columbia Center for Translational Immunology, New York, NY, USA; Herbert Irving Comprehensive Cancer Center, Columbia University Irving Medical Center, New York, NY, USA; Department of Systems Biology, Program for Mathematical Genomics, Columbia University, New York, NY. Electronic address: bi2175@cumc.columbia.edu. ^[6]

关键词 APDS CRISPR base editing VUS activated PI3K delta syndrome clinical NGS genome engineering inborn errors of immunity precision medicine primary T cells variant classification

医学主题词人类(Humans);I类磷脂酰肌醇3-激酶类(Class I Phosphatidylinositol 3-Kinases);T淋巴细胞(T-Lymphocytes);Ia类磷脂酰肌醇3-激酶(Class Ia Phosphatidylinositol 3-Kinase);高通量核苷酸序列分析(High-Throughput Nucleotide Sequencing);遗传变异(Genetic Variation);信号传导(Signal Transduction)

DOI 10.1016/j.cell.2025.05.037

PMID 40543502

发布时间 2025-10-13

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