Case Report
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] |
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