ஜர்னல் ஆஃப் ஜெனடிக் சிண்ட்ரோம்ஸ் & ஜீன் தெரபி
திறந்த அணுகல்

சுருக்கம்

Leukocyte Beta2-Integrins; Genes and Disease

MacPherson M, Lek HS, Morrison V and Fagerholm S

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.