The ciliopathy-related traffic machinery: a new player in immune synapse assembly in T lymphocytes and a disease target in common variable immunodeficiency (CVID)

Common variable immunodeficiency (CVID) is the most frequent genetic immune disease. Due to the defect in antibody production, patients with CVID are highly susceptible to bacterial infections and frequently develop autoimmune disorders and cancer. The recent identification of 11 distinct disease genes supports the notion that CVID groups several immune disorders sharing the hallmark of antibody deficiency. This is a major step towards the classification of CVID and hence the development of targeted therapies. Unfortunately the known genetic defects account for only 15-20% of CVID, underscoring the importance of identifying the other disease genes. With this project we want to contribute to elucidate the genetic basis of CVID by characterizing the molecular machinery involved in T lymphocytes, a subgroup of cells in the immune system. T lymphocyte activation indirectly controls antibody production and is associated with a more severe disease presentation. Identifying the genetic lesions in CVID will improve diagnostic precision, providing new leads for the development of specifically tailored therapies.