TLR7 mutations cause human monogenic lupus: Understanding mechanism to illuminate therapy.

    Project: Research

    Project Details

    Description

    Systemic lupus erythematosus is a multiorgan autoimmune disease with a strong genetic basis. We have identified novel or rare variants in the X linked gene TLR7 in autoimmune patients and show their pathogenicity by expressing an orthologous variant in mice. This is the first evidencethat TLR7 variants cause monogenic human disease. We plan to unravel the cellular and molecular basis by which the variants alter proteinfunction and drive disease in order to develop more effective treatments.
    StatusFinished
    Effective start/end date1/01/2031/12/22

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