Immunodeficienza grave combinata, Immunodeficienza combinata, Immunodeficienza comune variabile (140 geni)
| ADA | CORO1A | INO80 | PMS2 | STAT1 |
| AICDA | CR2 | IRF2BP2 | PNP | STAT5B |
| AK2 | CTLA-4 | ITPKB | POLD1 | STIM1 |
| ARHGEF1 | DCLRE1C | JAK3 | POLD2 | STK4 |
| ARPC1B | DNMT3B | KDM6A | POLE | TAP1 |
| ATM | DOCK2 | KMT2A | POLE2 | TAP2 |
| ATP6AP1 | DOCK8 | KMT2D (MLL2) | PRKDC | TAPBP |
| B2M | EPG5 | LAT | PTEN | TBX1 |
| BCL10 | ERCC6L2 | LCK | PTPRC | TCF3 |
| BCL11B | EXTL3 | LIG1 | RAC2 | TFRC |
| BLM (RECQL3) | FAT4 | LIG4 | RAG1 | TNFRSF13B |
| BLNK | FCHO1 | LRBA | RAG2 | TNFRSF13C |
| BTK | FOXN1 | MALT1 | REL | TNFRSF4 |
| CARD11 | GINS1 | MAP3K14 | RELA | TNFSF12 |
| CCBE1 | HELLS | MCM4 | RELB | TOP2B |
| CD19 | HOIL1 (RBCK1) | MOGS (GCS1) | RFX5 | TRAC |
| CD247 | HOIP1 (RNF31) | MS4A1 | RFXANK | TRNT1 |
| CD3D | ICOS | MSH6 | RFXAP | TTC37 |
| CD3E | ICOSLG | MSN | RHOH | TTC7A |
| CD3G | IGHM | MYSM1 | RMRP | UNG |
| CD40 (TNFRSF5) | IGKC | NBS1 (NBN) | RNF168 | WAS |
| CD40LG (TNFSF5) | IGLL1 | NFE2L2 | RNU4ATAC | WIPF1 |
| CD79A | IKBA (NFKBIA) | NFKB1 | SEC61A1 | ZAP70 |
| CD79B | IKBKB | PIK3R1 | SP110 | ZBTB24 |
| CD81 | IKZF1 | NFKB2 | SEMA3E | |
| CD8A | IL21 | NHEJ1 | SH3KBP1 | |
| CDCA7 | IL21R | ORAI1 | SKIV2L/TTC37 | |
| CHD7 | IL2RG | NSMCE3 | SLC39A7 | |
| CIITA | IL7R | PIK3CD GOF | SMARCAL1 |