Table 7 Pathogenic mutations found in whole exome sequencing of patients with CVID
gene | frequency | Percentage |
|---|---|---|
nothing | 24 | 20.2% |
AIRE | 2 | 1.7% |
BAFFR | 2 | 1.7% |
BLNK | 2 | 1.7% |
BRAC2 | 1 | 0.8% |
BTK | 3 | 2.5% |
CD27 | 2 | 1.7% |
CD70 | 1 | 0.8% |
DCK1 | 1 | 0.8% |
DCLRE1C | 1 | 0.8% |
DNM-TBB | 1 | 0.8% |
DNMT3B | 10 | 8.4% |
FOXP3 | 1 | 0.8% |
ICOS | 1 | 0.8% |
IKZF1 | 1 | 0.8% |
IL12B | 1 | 0.8% |
IL12RB1 | 2 | 1.7% |
IL21R | 1 | 0.8% |
ITCH | 1 | 0.8% |
JAK3 | 1 | 0.8% |
LRBA | 20 | 16.8% |
NEHJ1 | 1 | 0.8% |
NFKB1 | 2 | 1.7% |
NFKB2 | 1 | 0.8% |
NKFB1 | 1 | 0.8% |
PGM3 | 1 | 0.8% |
PHC1 | 1 | 0.8% |
PIK3CD | 3 | 2.5% |
PIK3R1 | 3 | 2.5% |
PMS2 | 3 | 2.5% |
RAC2 | 3 | 2.5% |
RAG1 | 3 | 2.5% |
RFX5 | 1 | 0.8% |
RFXANK | 3 | 2.5% |
SH2DA1 | 1 | 0.8% |
STAT2 | 1 | 0.8% |
STAT3 | 2 | 1.7% |
TACI | 4 | 3.4% |
MAGT1 | 1 | 0.8% |
TERT | 1 | 0.8% |
XIAP | 2 | 1.7% |
ZBTB24 | 4 | 3.4% |
µ heavy | 1 | 0.8% |