Duplication of the IL2RA locus causes excessive IL-2 signaling and may predispose to very early onset colitis.-论文-万方医学网

作者： Maria E,Joosse ^[1] ; Fabienne,Charbit-Henrion ^[2] ; Remy,Boisgard ^[3] ; Rolien H C,Raatgeep ^[4] ; Dicky J,Lindenbergh-Kortleve ^[2] ; Léa M M,Costes ^[1] ; Sandrine,Nugteren ^[1] ; Nicolas,Guegan ^[1] ; Marianna,Parlato ^[1] ; Sharon,Veenbergen ^[2] ; Valérie,Malan ^[2] ; Jan K,Nowak ^[1] ; Iris H I M,Hollink ^[5] ; M Luisa,Mearin ^[6] ; Johanna C,Escher ^[7] ; Nadine,Cerf-Bensussan ^[8] ; Janneke N,Samsom ^[9]

作者单位： Laboratory of Pediatrics, division Gastroenterology and Nutrition, Erasmus University Medical Center-Sophia Children's Hospital, Rotterdam, the Netherlands. ^[1] Laboratory of Intestinal Immunity, Université de Paris, Imagine Institute, INSERM UMR 1163, Paris, France. ^[2] Department of Molecular Genetics, Université de Paris, Necker-Enfants Malades Hospital, Paris, France. ^[3] GENIUS group from the European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN). ^[4] Department of Cytogenetics, Université de Paris, Necker-Enfants Malades Hospital, Paris, France. ^[5] Department of Pediatric Gastroenterology and Metabolic Diseases, Poznan University of Medical Sciences, Poznan, Poland. ^[6] Department of Clinical Genetics Erasmus University Medical Center, Rotterdam, the Netherlands. ^[7] Department of Pediatrics, Unit of Pediatric Gastroenterology, Leiden University Medical Center, Leiden, the Netherlands. ^[8] Department of Pediatric Gastroenterology, Erasmus University Medical Center-Sophia Children's Hospital, Rotterdam, the Netherlands. ^[9] Laboratory of Pediatrics, division Gastroenterology and Nutrition, Erasmus University Medical Center-Sophia Children's Hospital, Rotterdam, the Netherlands. j.samsom@erasmusmc.nl. ^[10]

主题词发病年龄(Age of Onset);等位基因(Alleles);CD4阳性T淋巴细胞(CD4-Positive T-Lymphocytes);病例对照研究(Case-Control Studies);染色体, 人, 10对(Chromosomes, Human, Pair 10);结肠炎(Colitis);细胞因子类(Cytokines);抗药性(Drug Resistance);基因复制(Gene Duplication);基因表达(Gene Expression);遗传关联研究(Genetic Association Studies);基因座(Genetic Loci);疾病遗传易感性(Genetic Predisposition to Disease);人类(Humans);免疫组织化学(Immunohistochemistry);炎性肠疾病(Inflammatory Bowel Diseases);白细胞介素2(Interleukin-2);白细胞介素2受体α亚单位(Interleukin-2 Receptor alpha Subunit);淋巴细胞活化(Lymphocyte Activation);受体, 抗原, T细胞(Receptors, Antigen, T-Cell);信号传导(Signal Transduction)

DOI 10.1038/s41385-021-00423-5

PMID 34226674

发布时间 2023-02-03

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Duplication of the IL2RA locus causes excessive IL-2 signaling and may predispose to very early onset colitis.

Mucosal immunology

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Mucosal immunology

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Duplication of the IL2RA locus causes excessive IL-2 signaling and may predispose to very early onset colitis.

Mucosal immunology

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Mucosal immunology

相关期刊

检索历史清除