Lethal Interstitial Lung Disease Associated with a Gain-of-Function Mutation in IFIH1
Author:
Publisher
Springer Science and Business Media LLC
Subject
Immunology,Immunology and Allergy
Link
https://link.springer.com/content/pdf/10.1007/s10875-023-01494-8.pdf
Reference5 articles.
1. Rice GI, Del Toro DY, Jenkinson EM, Forte GM, Anderson BH, Ariaudo G, et al. Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. Nat Genet. 2014;46:503–9.
2. Zheng S, Lee PY, Wang J, Wang S, Huang Q, Huang Y, et al. Interstitial lung disease and psoriasis in a child with Aicardi-Goutieres syndrome. Front Immunol. 2020;11:985.
3. Amari S, Tsukamoto K, Ishiguro A, Yanagi K, Kaname T, Ito Y. An extremely severe case of Aicardi-Goutieres syndrome 7 with a novel variant in IFIH1. Eur J Med Genet. 2020;63:103646.
4. Liu Y, Jesus AA, Marrero B, Yang D, Ramsey SE, Sanchez GAM, et al. Activated STING in a vascular and pulmonary syndrome. N Engl J Med. 2014;371:507–18.
5. Clarke SL, Pellowe EJ, de Jesus AA, Goldbach-Mansky R, Hilliard TN, Ramanan AV. Interstitial lung disease caused by STING-associated vasculopathy with onset in infancy. Am J Respir Crit Care Med. 2016;194:639–42.
Cited by 4 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. Human life within a narrow range: The lethal ups and downs of type I interferons;Science Immunology;2024-07-05
2. Lethal phenotypes in Mendelian disorders;Genetics in Medicine;2024-07
3. Lethal phenotypes in Mendelian disorders;2024-01-13
4. Atteinte pulmonaire dans les maladies auto-inflammatoires;Revue des Maladies Respiratoires;2024-01
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