PID-NGS genlista
Gener för medfödda immundefekter (n=329)
den 13 september 2016
IBTK
PRKCD
PSMB8
BTK
TRNT1
PLCG2
IGHM
CLEC16A
CECR1 / ADA2
IGLL1 (λ5)
IL21
NFAT5
CD79A
NOTCH1
NLRC4
CD79B
RTP4
ADAM17
BLNK
MAP3K14
COPA
LRRC8A
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 / E2A
IL36RN
TRAC
PIK3R1
SLC29A3
MALT1
TWEAK / TNFSF12
CARD14 (CARMA2)
OX40 / TNFRSF4
NFKB2
SH3BP2
ZBTB24 (ICF2)
PID-NGS genlista
den 13 september 2016
DOCK2
CFI
NOLA3 / NOP10
CTLA4
HF1 / CFH
TERC
CD28
MBL2
TINF2
NEIL3
MASP1
NHP2
RIPK1
MASP2
RTEL1
SEC16A
COLEC11/CLK1
DCLRE1B
TFRC
CD46
PARN
MIR181A1
PIGA
PRF1 (Perforin)
BCL10
CD59
UNC13D
C1QA
FCN3
STX11
C1QB
C1QBP
STXBP2
C1QC
CFHR1
SH2D1A
C1S
CFHR3
XIAP
C1R
THBD
ITK
C4A
TPP2
CD27 / TNFRSF7
C4B
IKBKG
PLDN / BLOC1S6
C2
NFKBIA
ELANE
C3
IRAK4
GFI1 / ZNF163
C5
MYD88
HAX1
C6
CXCR4
G6PC3
C7
TMC6 / EVER1
SLC37A4
C8A
TMC8 / EVER2
P14 / MAPBPIP / LAMTOR2
C8B
STAT2
TAZ
C8G
RPSA
COH1 / VPS13B
C9
PBX1
C16orf57 (USB1)
SERPING1 / C1INH
NLK
ITGB2 (CD18)
CFB
IRF7
CFD
MST1
SLC35C1 / FUCT1 (Fucose
transp.)
PFC / CFP
DKC1
KIND3 / KINDLIN3 / FERMT3
RAC2
PID-NGS genlista
den 13 september 2016
ACTB
AP3B1
IL12RB2
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
CLEC7A
CHS1 / LYST
IFNGR2
APOL1
MYO5A
IRF8
RMRP
RAB27A
ISG15
IKZF1 (Ikaros)
PID-NGS genlista
den 13 september 2016
STAT5B
NRAS
TREX1
MAGT1
FADD
RNASEH2A
WAS
AIRE
RNASEH2B
WIPF1
FOXP3
RNASEH2C
VAV1
IL2RA
SAMHD1
ATM
ITCH
ADAR
MRE11A
KRAS
ACP5
NBS1 / NBN
MUC2
IFIH1
RECQL3 / BLM
TMEM173
IRF3
DNMT3B
FOXN1
NFKB1
RNF168
TBX1
ACD
SMARCAL1
IL2RG
CTC1
SPINK5
JAK3
WRAP53
SP110
IL7R
CHD7
PTPRC
POLE
CD3D
TTC7A
CD3E
TPP1
CD3G
SEMA3E
CD247
EPG5
CORO1A
HOIP / RNF31
RAG1
TERT
RAG2
LCK
DCLRE1C
PNP
LIG4
STK4
LIG1
TNFRSF6 (CD95/Fas)
PRKDC
TNFSF6 (CD178/FASLG)
AK2
CASP10
ADA
CASP8
NHEJ1
