Common Variable Immune Deficiency (CVID) is a heterogeneous group of conditions that are defined by specific clinical criteria. These criteria include the requirement that patients with CVID are deficient in IgG and another immunoglobulin class, with infections and the lack of response to vaccination. It has become clear, however, that CVID is an umbrella diagnosis, including diverse monogenetic defects resulting in at least a humoral immune defect, but also often leads to increased risks of autoimmunity and malignancy. This has been highlighted by the description of patients with ytotoxic T-lymphocyte-associated protein 4 (CTLA) haploinsufficiency, lipopolysaccharide (LPS)-responsive and beige-like anchor protein deficiency, who have additional immune dysregulation, as well as targeted therapy options.

Recent advances in genomics have led to the identification of a set of genetic variants underlying the broad, clinical diagnosis of CVID leading to the improved precision of the diagnosis of these conditions as well as their therapy. Amongst these techniques that are currently being utilized are whole exome sequencing (WES) and/or whole genome sequencing (WGS). Additionally, there are other efforts to identify biomarkers and altered immune mechanisms that may also be used to subset patients.

Credit claiming for this activity will be available through December 31, 2021. Requests to claim credit on or after January 1, 2022 will be subject to an administrative fee.