More Common Than You Think: Common Variable Immune Deficiency

Table 3

Genes implicated in CVID [7, 10].

Gene symbol	Protein encoded	Protein function	Chromosomal location	Estimated % CVID patients	Reference
CD19	CD19	Protein component of the B-cell receptor complex	16p	<1%	Chapel et al., 2008 [10]
ICOS	Inducible costimulator of activated T-cells	Expressed on activated T-cells; facilitates cooperation between B and T-cells	2q	2%	Cunningham-Rundles, 2010 [7]
TNFRSF13B	Transmembrane activator and calcium-modulator and cyclophilin ligand (TACI)	Induces activation of transcription factors (NFAT, AP1, and NF-kappaB) and plays a crucial role in humoral immunity by interacting with a TNF ligand	17p	8%	Cunningham-Rundles, 2010 [7]
TNFRSF13C	BAFF-R, B-cell activating factor of the TNF family receptor	B-cell receptor specific for B-cell-activating factor (BAFF) which enhances B-cell survival	22q	Unknown	Chapel et al., 2008 [10]
Msh5	MSH5	Involved in DNA mismatch repair or meiotic recombination processes	6p	12%	Chapel et al., 2008 [10]
MS4A1  (CD20)	MS4A1	Encodes a B-lymphocyte surface molecule involved in development and differentiation of B-cells into plasma cells	11q12-q13	<1%	Cunningham-Rundles, 2010 [7]
CD81	CD81 (TAPA1)	Mediates signal transduction events involved in regulating cell development, growth, and motility	11p15.5	<1%	Cunningham-Rundles, 2010 [7]