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Haploinsufficiency of Murine Nfkb1 Confers a Defective Immune Response and Diverse Late-onset Complications
thesisposted on 07.07.2020, 07:11 authored by JASPER KEVIN SPENCER CORNISH
Common variable immunodeficiency (CVID) is a disease in which patients show a weak immune response and susceptibility to recurrent infections. With age, CVID patients can develop additional complications, including autoimmune disease and cancer, which can significantly shorten their lives. CVID develops due to mutations in genes that are ordinarily critical for the immune system. The most commonly affected gene in Europeans is NFKB1. However, it was unclear why the NFKB1 gene is required to prevent CVID. This project studied the function of NFκB1 in mice and identified several mechanisms that could give rise to CVID in the relevant human patients.