LRBA Deficiency in a Patient With a Novel Homozygous Mutation Due to Chromosome 4 Segmental Uniparental Isodisomy

Author:

Soler-Palacín Pere,Garcia-Prat Marina,Martín-Nalda Andrea,Franco-Jarava Clara,Rivière Jacques G.,Plaja Alberto,Bezdan Daniela,Bosio Mattia,Martínez-Gallo Mónica,Ossowski Stephan,Colobran Roger

Funder

Instituto de Salud Carlos III

Publisher

Frontiers Media SA

Subject

Immunology,Immunology and Allergy

Reference33 articles.

1. The 2015 IUIS phenotypic classification for primary immunodeficiencies;Bousfiha;J Clin Immunol.,2015

2. Genes associated with common variable immunodeficiency: one diagnosis to rule them all?;Bogaert;J Med Genet.,2016

3. The role of genomics in common variable immunodeficiency disorders;Kienzler;Clin Exp Immunol.,2017

4. Review: diagnosing common variable immunodeficiency disorder in the era of genome sequencing;Ameratunga;Clin Rev Allergy Immunol.,2018

5. Deleterious mutations in LRBA are associated with a syndrome of immune deficiency and autoimmunity9861001 Lopez-HerreraG TampellaG Pan-HammarströmQ HerholzP Trujillo-VargasCM PhadwalK 10.1016/j.ajhg.2012.04.01522608502Am J Hum Genet.902012

同舟云学术

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