UCL Discovery
UCL home » Library Services » Electronic resources » UCL Discovery

Primary immunodeficiencies due to abnormalities of the actin cytoskeleton

Burns, SO; Zarafov, A; Thrasher, AJ; (2017) Primary immunodeficiencies due to abnormalities of the actin cytoskeleton. Current Opinion in Hematology , 24 (1) pp. 16-22. 10.1097/MOH.0000000000000296. Green open access

[thumbnail of Figures_Burns and Thrasher_04082016.pptx] Slideshow
Figures_Burns and Thrasher_04082016.pptx - Accepted Version

Download (194kB)
[thumbnail of Thrasher_Review for current opinion in haematology_Burns and Thrasher.pdf]
Preview
Text
Thrasher_Review for current opinion in haematology_Burns and Thrasher.pdf

Download (288kB) | Preview

Abstract

PURPOSE OF REVIEW: Primary immunodeficiencies (PIDs) are inherited conditions where components of the immune system are missing or dysfunctional. Over 300 genes have been causally linked to monogenic forms of PID, including a number that regulate the actin cytoskeleton. The majority of cytoskeletal defects disrupt assembly and disassembly of filamentous actin in multiple immune cell lineages impacting functions such as cell migration and adhesion, pathogen uptake, intercellular communication, intracellular signalling, and cell division. RECENT FINDINGS: In the past 24 months, new actin defects have been identified through next generation sequencing technologies. Substantial progress has also been made in understanding the pathogenic mechanisms that contribute to immunological dysfunction, and also how the cytoskeleton participates in normal physiological immune processes. SUMMARY: This review summarises recent advances in the field, raising awareness of these conditions and our current understanding of their presentation. Description of further cases and new conditions will extend the clinical phenotype of actin relation disorders, and will promote the development of more effective and targeted therapies.

Type: Article
Title: Primary immunodeficiencies due to abnormalities of the actin cytoskeleton
Location: United States
Open access status: An open access version is available from UCL Discovery
DOI: 10.1097/MOH.0000000000000296
Publisher version: http://dx.doi.org/10.1097/MOH.0000000000000296
Language: English
Additional information: Copyright © 2016 Wolters Kluwer Health, Inc. Unauthorized reproduction of this article is prohibited. This manuscript version is published under a Creative Commons Attribution–Non-Commercial 3.0 (CC BY-NC) (http://creativecommons.org/licenses/by-nc/2.0/). Access may be initially restricted by the publisher. the final published version of record can be found at http://dx.doi.org/10.1097/MOH.0000000000000296.
Keywords: Actin cytoskeleton, autoimmunity, immune cell, primary immunodeficiency
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
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Infection, Immunity and Inflammation Dept
URI: https://discovery.ucl.ac.uk/id/eprint/1527432
Downloads since deposit
533Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item