Musu, Ester (2019) Comparison of effects on immunity and autoimmunity of impairment of SH2B3 gene function in human and mice. Doctoral Thesis.
Aim: The genetic and physiological similarities between mice and humans have led to dedicate a remarkable attention on murine models in the biomedical research. Our objective is to identify the molecular origins of autoimmunity diseases and immunosenescence by the analysis of a knock-out (KO) mouse model, SH2B3 deficient mouse, as model of autoimmunity. The study includes the comparison of SH2B3 KO mouse immune traits with those of human carriers of a specific genetic variant localized in the SH2B3 gene, the nsSNP rs3184504-T, that is associated with the significant increase of specific cell (Orrù, 2013) and with several autoimmune diseases; moreover the impact of ageing on immune trait levels is considered. To this aim we measured specific immune traits in SH2B3 KO mouse at 2/3, 6/7, 10/11, 14/15 and 18 months.
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