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Browsing by discipline "Immunologi"

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  • Mannerström, Helga (2013)
    Autoimmune polyendocrinopathy-candidasis-ectodermal dystrophy, APECED, is a rare monogenic autoimmune disease in humans, which is caused by loss-of-function mutation in Autoimmune Regulator gene, AIRE. Previous results have shown impairments in the circulating T cells of the APECED patients. In this study we wanted to look closer on the disturbance in the T cell receptor development of APECED patients. By studying the TCR-mediated responsiveness of CD3 stimulation and comparing the activation threshold between APECED patients and controls we here show a lower response on Zap-70 phosphorylation to TCR-mediated stimulation in naïve T cell population of APECED patients as well as an increased IFN-γ production in lymphocytes of APECED patients. The higher cytokine production and the insensitivity toward further activation could in part explain some of the pathogenesis behind disease manifestations seen in APECED.