Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency.-论文-万方医学网

第一作者： Chiara,Bacchelli

第一单位： Genetics and Genomic Medicine, UCL Institute of Child Health, London, United Kingdom.

作者： Chiara,Bacchelli ^[1] ; Federico A,Moretti ^[2] ; Marlene,Carmo ^[2] ; Stuart,Adams ^[3] ; Horia C,Stanescu ^[4] ; Kerra,Pearce ^[1] ; Manisha,Madkaikar ^[5] ; Kimberly C,Gilmour ^[6] ; Adeline K,Nicholas ^[7] ; C Geoffrey,Woods ^[7] ; Robert,Kleta ^[4] ; Phil L,Beales ^[1] ; Waseem,Qasim ^[6] ; H Bobby,Gaspar ^[8]

作者单位： Genetics and Genomic Medicine, UCL Institute of Child Health, London, United Kingdom. ^[1] Infection, Immunity, Inflammation and Physiological Medicine, UCL Institute of Child Health, London, United Kingdom. ^[2] Bone Marrow Transplantation, Great Ormond Street Hospital NHS Trust, London, United Kingdom. ^[3] Centre for Nephrology, University College London Royal Free Hospital, London, United Kingdom. ^[4] Infection, Immunity, Inflammation and Physiological Medicine, UCL Institute of Child Health, London, United Kingdom; Department of Pediatric Immunology and Leukocyte Biology, National Institute of Immunohematology, ICMR, Mumbai, India. ^[5] Infection, Immunity, Inflammation and Physiological Medicine, UCL Institute of Child Health, London, United Kingdom; Department of Clinical Immunology, Great Ormond Street Hospital NHS Trust, London, United Kingdom. ^[6] Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom. ^[7] Infection, Immunity, Inflammation and Physiological Medicine, UCL Institute of Child Health, London, United Kingdom; Department of Clinical Immunology, Great Ormond Street Hospital NHS Trust, London, United Kingdom. Electronic address: h.gaspar@ucl.ac.uk. ^[8]

主题词衔接蛋白质类, 信号转导(Adaptor Proteins, Signal Transducing);细胞凋亡(Apoptosis);钙信号(Calcium Signaling);细胞分化(Cell Differentiation);近亲(Consanguinity);女(雌)性(Female);基因型(Genotype);纯合子(Homozygote);人类(Humans);Jurkat细胞(Jurkat Cells);淋巴细胞活化(Lymphocyte Activation);男(雄)性(Male);膜蛋白质类(Membrane Proteins);巴基斯坦(Pakistan);系谱(Pedigree);受体, 抗原, T细胞(Receptors, Antigen, T-Cell);序列缺失(Sequence Deletion);重症联合免疫缺陷(Severe Combined Immunodeficiency);T淋巴细胞(T-Lymphocytes);转基因(Transgenes)

DOI 10.1016/j.jaci.2016.05.036

PMID 27522155

发布时间 2022-01-29

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Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency.

The Journal of allergy and clinical immunology

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The Journal of allergy and clinical immunology

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Mutations in linker for activation of T cells (LAT) lead to a novel form of severe combined immunodeficiency.

The Journal of allergy and clinical immunology

相似文献

The Journal of allergy and clinical immunology

相关期刊

检索历史清除