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