Papapietro, O;
Chandra, A;
Eletto, D;
Inglott, S;
Plagnol, V;
Curtis, J;
Maes, M;
... Nejentsev, S; + view all
(2020)
Topoisomerase 2β mutation impairs early B-cell development.
Blood
, 135
(17)
pp. 1497-1501.
10.1182/blood.2019003299.
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Abstract
Mutations impairing early B-cell development cause monogenic primary immunodeficiencies that manifest with markedly reduced or absent B cells, hypogammaglobulinemia, and recurrent bacterial infections from childhood. Approximately 85% of such patients have mutations in BTK, the gene responsible for X-linked agammaglobulinemia.1 Current research focuses on patients with unknown genetic defects, because the identification of the causative genes not only will facilitate diagnosis of primary immunodeficiencies but also can reveal new biological roles of the affected proteins in human B-cell development and point at novel drug targets.
| Type: | Article |
|---|---|
| Title: | Topoisomerase 2β mutation impairs early B-cell development |
| Open access status: | An open access version is available from UCL Discovery |
| DOI: | 10.1182/blood.2019003299 |
| Publisher version: | https://doi.org/10.1182/blood.2019003299 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. |
| Keywords: | b cell development, dna topoisomerases, mutation, top2b gene |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Div of Infection and Immunity |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10111806 |
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