Genetic syndromes and autoimmunity: what do we know? Focus on Down and Turner syndrome

The association between genetic syndromes and immunity disorders is common and represents an interesting model for a better understanding of the underlying mechanism of autoimmunity predisposition. Overall, the pathogenesis of autoimmune diseases (ADs) is influenced by three different factors: genes, immune system and environment. In particular, the genes confer a "predisposition" or genetic susceptibility. The exact mechanisms underlying autoimmune diseases is still unknown. Probably a pathogenic inflammatory response by self-antigen-specific T cells is involved. Alterations in various genes have been suggested to be responsible for the increased prevalence, the earlier onset or the atypical evolution over time of ADs in patients with genetic syndrome. Establish the relationship between genetic syndromes and the immune system is recommended and necessary, in order to give these patients, the correct diagnostic assistance, adequate follow-up with early detection of complications and optimal therapeutic intervention.