PID-NGS genlista
Gener för medfödda immundefe kter (n=328)
den 22 februari 2017
IBTK
PRKCD
PSMB8
BTK
TRNT1
PLCG2
IGHM
CLEC16 A
CECR1 / ADA2
IGLL1 (λ5)
IL21
NFAT5
CD79A
NOTCH1
NLRC4
CD79B
RTP4
ADAM17
BLNK
MAP3K14
COPA
LRRC8 A
PMS2
TAP2
ICOS
TTC37
TAP1
CD19
INO80
TAPBP (Tapasin)
CD81
MSH6
RFX5
MS4A1 (CD20)
MEFV
RFXAP
TNFRSF13B (TACI)
MVK
MHC2TA / CIITA
TNFRSF13C (BAFF-R)
CIAS1 / PYPAF1 /NLRP3
RFXANK
CD21 / CR2
NALP12 /NLRP12
B2M
CD40LG
TNFRSF1A
ORAI1
CD40
IL10RA
STIM1
AICDA
IL10RB
CD8A
UNG
IL10
ZAP70
CARD11/CARMA11/BIMP3
PSTPIP1
RHOH
IL21R
NOD2
MSN
LRBA
LPIN2
PIK3CD
MOGS
IL1RN
CTPS1
SPPL2A
RBCK1 / HOIL1 / XAP3
IKBKB
TCF3 / E2 A
IL36RN
TRAC
PIK3R1
SLC29A3
MALT1
TWEAK / TNFSF12
CARD14 (CARMA2)
OX40 / TNFRSF4
NFKB2
SH3BP2
ZBTB24 (ICF2)
PID-NGS genlista
den 22 februari 2017
DOCK2
CFI
TERC
CTLA4
HF1 / CFH
TINF2
CD28
MBL2
NHP2
NEIL3
MASP1
RTEL1
RIPK1
MASP2
DCLRE1B
SEC16A
COLEC11/CLK1
PARN
TFRC
CD46
PRF1 (Perforin)
MIR181A1
PIGA
UNC13D
BCL10
CD59
STX11
C1QA
FCN3
STXBP2
C1QB
C1QBP
SH2D1A
C1QC
CFHR1
XIAP
C1S
CFHR3
ITK
C1R
THBD
CD27 / TNFRSF7
C4A
TPP2
PLDN / BLOC1S6
C4B
IKBKG
ELANE
C2
NFKBIA
GFI1 / ZNF163
C3
IRAK4
HAX1
C5
MYD88
G6PC3
C6
CXCR4
SLC37A4
C7
TMC6 / EVER1
P14 / MAPBPIP / LAMTO R2
C8A
TMC8 / EVER2
TAZ
C8B
STAT2
COH1 / VPS13B
C8G
RPSA
C16orf57 (USB1)
C9
PBX1
ITGB2 (CD18)
SERPING1 / C1INH
NLK
CFB
IRF7
SLC35C1 / FUCT1 (Fucose
transp.)
CFD
DKC1
PFC / CFP
NOLA3 / NOP10
KIND3 / KINDLIN3 / FERMT3
RAC2
ACTB
PID-NGS genlista
den 22 februari 2017
FPR1
NKX2-5
SLC11A1 / NRAMP1
CTSC (Cathepsin C)
MKL1
SPPL2A
CEBPE
PTPN14
IL12RB1
SBDS
GJC2
RORC
CYBB / p91-PHOX
PROX1
STAT1
CYBA / p22-PHOX
PIK3CA
FCGR3A/CD16B
NCF1 / p47-PHOX
VEGFC
MCM4
NCF2 /p67-PHOX
RASA1
GCCR / NR3C1
NCF4 / p40-PHOX
FLT4 / VEGFR3
TNFSF11
MPO
GJA1
TNFRSF11A
GATA1
ITGA9
TCIRG1
CSF3R
TSC1
OSTM1
VPS45
PTEN
CLCN7
JAGN1
KIF11
SNX10
CD4
FOXC2
PLEKHM1
TLR3
TSC2
CA2
UNC93B1
CCBE1
GATA2
TRAF3
SOX18
GMCSFR / CSF2RA
TICAM1 / TRIF
G6PC (formerly G6PT)
CLBP
TBK1
ALG1
CARD9
STAT3
TCN2
IL17RA
DOCK8
SLC46A1
IL17F
TYK2
MTHFD1
IL17RC
PGM3
IL12B/23 (p40)
TRAF3IP2 / ACT1
UNC119
IFNGR1
CLEC7 A
CHS1 / LYST
IFNGR2
APOL1
MYO5A
IRF8
RMRP
RAB27A
ISG15
IKZF1 (Ikaros)
AP3B1
IL12RB2
STAT5B
PID-NGS genlista
den 22 februari 2017
MAGT1
FADD
RNASEH2B
WAS
AIRE
RNASEH2C
WIPF1
FOXP3
SAMHD1
VAV1
IL2RA
ADAR
ATM
ITCH
ACP5
MRE11A
KRAS
IFIH1
NBS1 / NBN
TMEM173
IRF3
RECQL3 / BLM
FOXN1
NFKB1
DNMT3B
TBX1
ACD
RNF168
IL2RG
CTC1
SMARCAL1
JAK3
WRAP53
SPINK5
IL7R
WDR1
SP110
PTPRC
BCL11B
CHD7
CD3D
POLE
CD3E
TTC7 A
CD3G
TPP1
CD247
SEMA3E
CORO1A
EPG5
RAG1
HOIP / RNF31
RAG2
TERT
DCLRE1C
LCK
LIG4
PNP
LIG1
STK4
PRKDC
TNFRSF6 (CD95/Fas)
AK2
TNFSF6 (CD178/FASLG)
ADA
CASP10
NHEJ1
CASP8
TREX1
NRAS
RNASEH2A