Incomplete penetrance in primary immunodeficiency: a skeleton in the closet
Author:
Funder
National Institute of Allergy and Infectious Diseases
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s00439-020-02131-9.pdf
Reference159 articles.
1. Abel L et al (2010) Age-dependent mendelian predisposition to herpes simplex virus type 1 encephalitis in childhood. J Pediatrics 157(4):623–629. https://doi.org/10.1016/j.jpeds.2010.04.020
2. Adegbola AA et al (2015) Monoallelic expression of the human FOXP2 speech gene. Proc Natl Acad Sci 112(22):6848–6854. https://doi.org/10.1073/pnas.1411270111
3. Aldrich RA, Steinberg AG Campbell DC (1954) Pedigree demonstrating a sex-linked recessive condition characterized by draining ears, eczematoid dermatitis and bloody diarrhea. Pediatrics, 13(2): 133–9. https://www.ncbi.nlm.nih.gov/pubmed/13133561.
4. Al-Mousa H et al (2016) Unbiased targeted next-generation sequencing molecular approach for primary immunodeficiency diseases. J Allergy Clin Immunol 137(6):1780–1787. https://doi.org/10.1016/j.jaci.2015.12.1310 (Elsevier Ltd)
5. Ameratunga R et al (2017) Epistatic interactions between mutations of TACI (TNFRSF13B) and TCF3 result in a severe primary immunodeficiency disorder and systemic lupus erythematosus. Clin Transl Immunol Nat Publ Group 6(10):e159. https://doi.org/10.1038/cti.2017.41
Cited by 60 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. Clinical heterogeneity in families with multiple cases of inborn errors of immunity;Clinical Immunology;2024-02
2. Identification of Two Variants c.2697A > C and c.3305A > C in USP7 by Analysis of Whole-Exome Sequencing in Chinese Patients with Hao-Fountain Syndrome;Global Medical Genetics;2024-01
3. Common variable immunodeficiency, cross currents, and prevailing winds;Immunological Reviews;2023-11-28
4. A zebrafish model of Ifih1-driven Aicardi–Goutières syndrome reproduces the interferon signature and the exacerbated inflammation of patients;Frontiers in Immunology;2023-11-24
5. Inborn errors of immunity: an expanding universe of disease and genetic architecture;Nature Reviews Genetics;2023-10-20
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