Novel Frameshift Autosomal Recessive Loss-of-Function Mutation in SMARCD2 Encoding a Chromatin Remodeling Factor Mediates Granulopoiesis
Author:
Funder
Türkiye Bilimsel ve Teknolojik Araştirma Kurumu
Publisher
Springer Science and Business Media LLC
Subject
Immunology,Immunology and Allergy
Link
https://link.springer.com/content/pdf/10.1007/s10875-020-00878-4.pdf
Reference19 articles.
1. Boztug K, Klein C. Genetics and pathophysiology of severe congenital neutropenia syndromes unrelated to neutrophil elastase. Hematol Oncol Clin North Am. 2013;27(1):43–60 vii.
2. Kostmann R. Infantile genetic agranulocytosis; agranulocytosis infantilis hereditaria. Acta Paediatr Suppl. 1956;45(Suppl 105):1–78.
3. Klein C, Grudzien M, Appaswamy G, Germeshausen M, Sandrock I, Schaffer AA, et al. HAX1 deficiency causes autosomal recessive severe congenital neutropenia (Kostmann disease). Nat Genet. 2007;39(1):86–92.
4. Tangye SG, Al-Herz W, Bousfiha A, Chatila T, Cunningham-Rundles C, Etzioni A, et al. Human inborn errors of immunity: 2019 update on the classification from the International Union of Immunological Societies Expert Committee. J Clin Immunol. 2020;40(1):24–64.
5. Boztug K, Jarvinen PM, Salzer E, Racek T, Monch S, Garncarz W, et al. JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia. Nat Genet. 2014;46(9):1021–7.
Cited by 7 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 and transcriptomic characteristics of a novel SMARCD2 mutation that disrupts neutrophil maturation and function;Pediatric Blood & Cancer;2023-09-15
2. Congenital Neutropenia with Specific Granulocyte Deficiency Caused by Novel Double Heterozygous SMARCD2 Mutations;Hematology Reports;2022-09-09
3. A Novel CEBPE Variant Causes Severe Infections and Profound Neutropenia;Journal of Clinical Immunology;2022-06-20
4. Specific Granule Deficiency Due To Novel Homozygote SMARCD2 Variant;Pediatric Allergy, Immunology, and Pulmonology;2022-03-01
5. Low Density Granulocytes and Dysregulated Neutrophils Driving Autoinflammatory Manifestations in NEMO Deficiency;Journal of Clinical Immunology;2022-01-14
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