title: The X chromosome and immune associated genes.
abstract: 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 challenge for researchers in the coming years will be to dissect the role for the large number of X-linked microRNAs from the perspective of autoimmune disease development. Taken together, X chromosome might well constitute the common trait of the susceptibility to autoimmune diseases, other than to explain the female preponderance of these conditions. This review will focus on the available evidence on X chromosome changes and discuss their potential implications and limitations.
authors.affiliation: Center for Autoimmune Liver Diseases, Department of Medicine, IRCCS Istituto Clinico Humanitas, Rozzano, Italy.
authors.forename: Ilaria
authors.initials: I
authors.lastname: Bianchi
authors.forename: Ana
authors.initials: A
authors.lastname: Lleo
authors.forename: M Eric
authors.initials: ME
authors.lastname: Gershwin
authors.forename: Pietro
authors.initials: P
authors.lastname: Invernizzi
mesh_terms: D001327:Autoimmune Diseases / Q000453:epidemiology / Q000235:genetics; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D005260:Female; D050172:Genes, X-Linked; D006801:Humans; D007109:Immunity / Q000235:genetics*; D008297:Male; D035683:MicroRNAs / Q000235:genetics; D049951:X Chromosome Inactivation
chemical_list: D035683:MicroRNAs