Studying genetic variants contributing to Common Variable Immunodeficiency to advance the identification of novel target therapeutics
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Primary immune deficiencies are genetic disorders that result in a poorly functioning immune system. Common Variable Immunodeficiency (CVID) is the most common serious primary immune deficiency disease. A high proportion of these patients manifest with serious autoimmune features which negatively affect their health and survival. Previous studies have found a variety of genetic variants in lymphocyte signaling pathways, but the significance of these genetic variants is unknown. Further study of these genetic variants and the translation of these findings into a model for easier understanding is needed to advance new knowledge and identify treatment or prevention options.
Through this award, investigators aim to provide novel insights into the molecular pathogenesis of human CVID to help identify novel target therapeutics for the disease.
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