Table 7.
Pathways with an excess of genes with rare functional variants in common variable immunodeficiency (CVID) patients.
| Patient | Pathway | Genea |
|---|---|---|
| L296 | BCSP | CD79A, CR2, DAPP1, PLCG2 |
| L297 | TNFSP | CREB3, CREB3L1, NFKB1, PIK3CG, TNFRSF13B |
| N207 | BCSP | PIK3CD, DAPP1, NFKB1, CD81, NFATC3 |
| TCSP | PIK3CD, NFKB1, MAP14, NFATC3 | |
| N208 | BCSP | PIK3CD, IKBKB, CD81, NFATC3, MAP2K2 |
| FCERISP | PIK3CD, MAPK14, MAP2K3, MPA2K2 | |
| TCSP | PIK3CD, MAPK14, IKBKB, NFATC3, MAP2K2 | |
| TLRS | PIK3CD, MAPK14, IKBKB, IFNA14, MAP2K2, MAP2K3 | |
| TNFSP | PIK3CD, MAPK14, IKBKB, MAP2K3 | |
| N210 | TCSP | CDC42, MAP3K8, PAK6, SOS2 |
| N212 | BCSP | PIK3CG, PLCG2(2), NFATC2, MAPK1, RAC2 |
| FCERISP | PIK3CG, PLCG2(2), MAPK1, RAC2 | |
| NKCMC | PIK3CG, PTK2B, PTPN11, PLCG2(2), NFATC2, IFNAR1, MAPK1, RAC2 | |
| NLRSP | CASP5, NLRP1(4), MAPK1 | |
| N216 | MRP | MLH3, MSH2, PMS2 |
| N229 | PAP | PRKCZ, GUCY1B3, LCP2, ITPR2, ORAI1, PLA2G4B, ROCK1, TBXA2R, PIK3R2 |
| N231 | IINIgA | HLA-DRB1(2), TNFRSF13B, ICOSLG |
aNumber of genetic variants at this gene when is greater than one, indicated in brackets.