Nature Communications (Aug 2019)
Mutations in topoisomerase IIβ result in a B cell immunodeficiency
- 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
Affiliations
- Lori Broderick
- Department of Pediatrics, University of California at San Diego
- Shawn Yost
- Department of Pediatrics, University of California at San Diego
- Dong Li
- Center for Applied Genomics, Children’s Hospital of Philadelphia
- Matthew D. McGeough
- Department of Pediatrics, University of California at San Diego
- Laela M. Booshehri
- Department of Pediatrics, University of California at San Diego
- Marisela Guaderrama
- Department of Pediatrics, University of California at San Diego
- Susannah D. Brydges
- Regeneron Pharmaceuticals, Inc.
- Karolina Kucharova
- Laboratory of Molecular Immunology, Sanford Burnham Prebys Medical Discovery Institute
- Niraj C. Patel
- Department of Pediatrics, Levine Children’s Hospital, Atrium Health
- Margaret Harr
- Department of Genetics, Children’s Hospital of Philadelphia
- Hakon Hakonarson
- Center for Applied Genomics, Children’s Hospital of Philadelphia
- Elaine Zackai
- Department of Genetics, Children’s Hospital of Philadelphia
- Ian G. Cowell
- Institute for Cell and Molecular Biosciences, Newcastle University
- Caroline A. Austin
- Institute for Cell and Molecular Biosciences, Newcastle University
- Boris Hügle
- German Center for Pediatric and Adolescent Rheumatology
- Corinna Gebauer
- Division of Neonatology, University Hospital for Children and Adolescents, University of Leipzig
- Jianguo Zhang
- BGI-Shenzhen, Beishan Industrial Zone
- Xun Xu
- BGI-Shenzhen, Beishan Industrial Zone
- Jian Wang
- BGI-Shenzhen, Beishan Industrial Zone
- Ben A. Croker
- Department of Pediatrics, University of California at San Diego
- Kelly A. Frazer
- Department of Pediatrics, University of California at San Diego
- Christopher D. Putnam
- Department of Medicine, University of California at San Diego
- Hal M. Hoffman
- Department of Pediatrics, University of California at San Diego
- DOI
- https://doi.org/10.1038/s41467-019-11570-6
- Journal volume & issue
-
Vol. 10,
no. 1
pp. 1 – 15
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.
