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Mutations in topoisomerase IIβ result in a B cell immunodeficiency

Authors :
Lori Broderick
Shawn Yost
Dong Li
Matthew D. McGeough
Laela M. Booshehri
Marisela Guaderrama
Susannah D. Brydges
Karolina Kucharova
Niraj C. Patel
Margaret Harr
Hakon Hakonarson
Elaine Zackai
Ian G. Cowell
Caroline A. Austin
Boris Hügle
Corinna Gebauer
Jianguo Zhang
Xun Xu
Jian Wang
Ben A. Croker
Kelly A. Frazer
Christopher D. Putnam
Hal M. Hoffman
Source :
Nature Communications, Vol 10, Iss 1, Pp 1-15 (2019)
Publication Year :
2019
Publisher :
Nature Portfolio, 2019.

Abstract

Topoisomerases are required to release topological stress on DNA during replication and transcription. Here, Broderick et al. report genetic variants in TOP2B that cause a syndromic B cell immunodeficiency associated with reduced TOP2B function, defects in B cell development and B cell activation.

Subjects

Subjects :
Science

Details

Language :
English
ISSN :
20411723
Volume :
10
Issue :
1
Database :
Directory of Open Access Journals
Journal :
Nature Communications
Publication Type :
Academic Journal
Accession number :
edsdoj.f68d775e267842bf9a3e97c19180cf33
Document Type :
article
Full Text :
https://doi.org/10.1038/s41467-019-11570-6