Abstract

The absence of lipopolysaccharide-responsive beige-like anchor (LRBA) gene causes common variable immunodeficiency (CVID), autoimmunity and chronic inflammation. It is the only CVID gene that regulates vesicle trafficking and signal transduction, required for the regulation and function of many immune molecules. It is hypothesized that LRBA deficiency causes these medical conditions by deregulating NFkB-mediated multiple immune effectors critical for B cell activation.

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