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.

	Slideshow Figures_Burns and Thrasher_04082016.pptx - Accepted Version Download (194kB)
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.

Download activity - last month

Export as JSONCSVXML

Download activity - last 12 months

Export as XMLCSVJSON

Downloads by country - last 12 months

Export as JSONXMLCSV

Archive Staff Only

View Item