A novel IL2RG mutation presenting with atypical T− B+ NK+ phenotype: Rapid elucidation of NK cell origin
Author:
Affiliation:
1. Clinical Immunology Unit; Hospital Universitario Reina Sofia; Córdoba Spain
2. Immunology Unit; Facultad de Medicina; Universidad de Córdoba; Córdoba Spain
3. Pediatrics Unit; Hospital Universitario Reina Sofia; Córdoba Spain
Publisher
Wiley
Subject
Oncology,Hematology,Pediatrics, Perinatology and Child Health
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/pbc.24717/fullpdf
Reference4 articles.
1. Cytokines of the gamma(c) family control CD4+ T cell differentiation and function;Yamane;Nat Immunol,2012
2. Guidelines for newborn screening of primary immunodeficiency diseases;Borte;Curr Opin Hematol,2013
3. A novel IL2RG mutation associated with maternal T lymphocyte engraftment in a patient with severe combined immunodeficiency;Kellermayer;J Hum Genet,2006
4. Transplacentally acquired maternal T lymphocytes in severe combined immunodeficiency: A study of 121 patients;Muller;Blood,2001
Cited by 9 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. A novel X-linked mutation in IL2RG associated with early-onset inflammatory bowel disease: a case report of twin brothers;Journal of Medical Case Reports;2023-07-18
2. Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency;Journal of Clinical Immunology;2020-02-19
3. The IL-2RG R328X nonsense mutation allows partial STAT-5 phosphorylation and defines a critical region involved in the leaky-SCID phenotype;Clinical and Experimental Immunology;2020-01-19
4. Severe combined immune deficiency;Stiehm's Immune Deficiencies;2020
5. IL2RG hypomorphic mutation: identification of a novel pathogenic mutation in exon 8 and a review of the literature;Allergy, Asthma & Clinical Immunology;2019-01-05
1.学者识别学者识别
2.学术分析学术分析
3.人才评估人才评估
"同舟云学术"是以全球学者为主线，采集、加工和组织学术论文而形成的新型学术文献查询和分析系统，可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容，当前同舟云学术共收录了国内外主流学术期刊6万余种，收集的期刊论文及会议论文总量共计约1.5亿篇，并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询！咨询电话：010-8811{复制后删除}0370
www.globalauthorid.com
TOP
Copyright © 2019-2024 北京同舟云网络信息技术有限公司 京公网安备11010802033243号 京ICP备18003416号-3