Dec 20, 2011

The X chromosome and immune associated genes

Journal of Autoimmunity
Ilaria BianchiPietro Invernizzi


The X chromosome is known to contain the largest number of immune-related genes of the whole human genome. For this reason, X chromosome has recently become subject of great interest and attention and numerous studies have been aimed at understanding the role of genes on the X chromosome in triggering and maintaining the autoimmune aggression. Autoimmune diseases are indeed a growing heath burden affecting cumulatively up to 10% of the general population. It is intriguing that most X-linked primary immune deficiencies carry significant autoimmune manifestations, thus illustrating the critical role played by products of single gene located on the X chromosome in the onset, function and homeostasis of the immune system. Again, the plethora of autoimmune stigmata observed in patients with Turner syndrome, a disease due to the lack of one X chromosome or the presence of major X chromosome deletions, indicate that X-linked genes play a unique and major role in autoimmunity. There have been several reports on a role of X chromosome gene dosage through inactivation or duplication in women with autoimmune diseases, for example through a higher rate of circulating cells with a single X chromosome (i.e. with X monosomy). Finally, a chall...Continue Reading

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Mentioned in this Paper

Genome-Wide Association Study
Immune Response
Pathogenic Aspects
Biochemical Pathway
Y Chromosome
Hyper-IgM Immunodeficiency Syndrome, Type 1
WAS gene
Protein Methylation
Chromosomes, Human, X

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