Leukocyte beta2-integrins; genes and disease

MacPherson, M., Lek, H.S., Morrison, V.L. and Fagerholm, S. (2013) Leukocyte beta2-integrins; genes and disease. Journal of Genetic Syndromes and Gene Therapy, 4(6), 154. (doi:10.4172/2157-7412.1000154)

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Abstract

Integrins are heterodimeric transmembrane receptors that mediate cell-cell and cell-extracellular matrix interactions. Beta2-integrins are expressed exclusively in leukocytes and mediate many important functions in the immune system. Beta2-integrin genes are important in the pathologies of several diseases and genetic syndromes. These include Leukocyte Adhesion Deficiency (LAD) and Systemic Lupus Erythematosus (SLE), disorders which lie at opposite ends of the spectrum of immunological diseases. In LAD-I and LAD-III syndromes, beta2-integrin expression or function is reduced or absent. In SLE, genetic variants of the ITGAM gene, which encodes for the alpha M/CD11b chain of the beta2-integrin Mac-1,are associated with SLE development. In this mini review we summarise current knowledge regarding the involvement of beta2-integrins in LAD and SLE. Interestingly, dysfunctional beta2-integrins have been linked to both disorders, shedding light on the diverse roles of these receptors in the immune system.

Item Type:Articles
Status:Published
Refereed:Yes
Glasgow Author(s) Enlighten ID:Morrison, Dr Vicky
Authors: MacPherson, M., Lek, H.S., Morrison, V.L., and Fagerholm, S.
College/School:College of Medical Veterinary and Life Sciences > Institute of Infection Immunity and Inflammation
Journal Name:Journal of Genetic Syndromes and Gene Therapy
Publisher:Omics Publishing Group
ISSN:2157-7412
ISSN (Online):2157-7412
First Published:First published in Journal of Genetic Syndromes and Gene Therapy 4(6):157
Publisher Policy:Reproduced under a Creative Commons License

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