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 |