Primäre Immundefekte, umfassende Diagnostik : 435 Gene (930,695 kb)

ACD, ACP5, ADA, ADA2, ADAM17, ADAR, AGR2, AICDA, AIRE, AK2, ALPI, ALPK1, ANGPT1, ANKZF1, AP1S3, AP3B1, AP3D1, ARHGEF1, ARPC1B, ARPC5, ATAD3A, ATM, ATP6AP1, B2M, BACH2, BCL10, BCL11B, BLM, BLNK, BLOC1S6, BTK, C1QA, C1QB, C1QC, C1R, C1S, C2, C2orf69, C3, C5, C6, C7, C8A, C8B, C9, CARD8, CARD9, CARD10, CARD11, CARD14, CARMIL2, CASP8, CASP10, CBLB, CCBE1, CD3D, CD3E, CD3G, CD4, CD8A, CD19, CD27, CD28, CD40, CD40LG, CD46, CD55, CD59, CD70, CD79A, CD79B, CD81, CD247, CDC42, CDCA7, CEBPE, CFB, CFD, CFH, CFHR1, CFI, CFP, CFTR, CHD7, CIB1, CIITA, CLPB, COL7A1, COPA, CORO1A, CR2, CSF2RA, CSF2RB, CSF3R, CTC1, CTLA4, CTNNBL1, CTPS1, CTSC, CXCR2, CXCR4, CYBA, CYBB, CYBC1, DBR1, DCLRE1B, DCLRE1C, DEF6, DIAPH1, DKC1, DNAJC21, DNASE1L3, DNASE2, DNMT3B, DOCK2, DOCK8, DOCK11, DPP9, DUT, EFL1, ELANE, ELF4, EPG5, ERBIN, ERCC6L2, EXTL3, F12, FADD, FAS, FASLG, FAT4, FCGR3A, FCHO1, FCN3, FERMT1, FERMT3, FGL2, FLT3LG, FMNL2, FNIP1, FOXI3, FOXN1, FOXP3, FPR1, G6PC3, G6PD, GATA1, GATA2, GFI1, GIMAP5, GINS1, GUCY2C, HAVCR2, HAX1, HELLS, HMOX1, HPS1, HPS4, HPS6, HSPA1L, HTRA2, HYOU1, ICOS, ICOSLG, IFIH1, IFNAR1, IFNAR2, IFNG, IFNGR1, IFNGR2, IGLL1, IKBKB, IKZF1, IKZF2, IKZF3, IL1R1, IL1RN, IL2RA, IL2RB, IL2RG, IL6R, IL6ST, IL7R, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL17F, IL17RA, IL17RC, IL21, IL21R, IL23R, IL36RN, INO80, IPO8, IRAK4, IRF1, IRF2BP2, IRF3, IRF4, IRF7, IRF8, IRF9, ISG15, ITCH, ITGB2, ITK, ITPKB, IVNS1ABP, JAGN1, JAK1, JAK3, KCNA5, KDM6A, KMT2A, KMT2D, KRAS, LACC1, LAMTOR2, LAT, LCK, LCP2, LIG1, LIG4, LPIN2, LRBA, LRRC8A, LYN, LYST, MAGT1, MALT1, MAP3K14, MBL2, MCM4, MCM10, MCTS1, MECOM, MEFV, MOGS, MPEG1, MPO, MRTFA, MS4A1, MSN, MTHFD1, MVK, MYD88, MYO5B, MYSM1, NBN, NCF1, NCF2, NCF4, NCKAP1L, NCSTN, NFAT5, NFE2L2, NFKB1, NFKB2, NFKBIA, NHEJ1, NHP2, NLRC4, NLRP1, NLRP3, NLRP12, NOD2, NOP10, NPC1, NRAS, NSMCE3, NUDCD3, OAS1, ORAI1, OTULIN, PARN, PAX1, PEPD, PGM3, PI4KA, PIK3CD, PIK3CG, PIK3R1, PLCG2, PLG, PNP, POLA1, POLD1, POLD3, POLE, POLR3A, POLR3C, POLR3F, POMP, PRF1, PRIM1, PRKCD, PRKDC, PSENEN, PSMA3, PSMB4, PSMB8, PSMB9, PSMB10, PSTPIP1, PTCRA, PTEN, PTPN2, PTPRC, RAB27A, RAC2, RAG1, RAG2, RANBP2, RASGRP1, RBCK1, RC3H1, RECQL4, REL, RELA, RELB, RFX5, RFXANK, RFXAP, RHBDF2, RHOH, RIPK1, RNASEH2A, RNASEH2B, RNASEH2C, RNF31, RNF168, RORC, RPSA, RTEL1, SAMD9, SAMD9L, SAMHD1, SASH3, SBDS, SCGN, SEC61A1, SERPING1, SGPL1, SH2D1A, SH3KBP1, SKIC2, SKIC3, SLC7A7, SLC9A3, SLC19A1, SLC29A3, SLC35C1, SLC37A4, SLC39A7, SLC46A1, SLCO2A1, SMARCAL1, SMARCD2, SOCS1, SP110, SPI1, SPINK5, SPPL2A, SRP54, STAT1, STAT2, STAT3, STAT4, STAT5B, STAT6, STIM1, STING1, STK4, STX11, STXBP2, STXBP3, SYK, TAFAZZIN, TAP1, TAP2, TAPBP, TBK1, TBX1, TBX21, TCF3, TCN2, TERC, TERT, TET2, TFRC, TGFB1, TGFBR1, TGFBR2, TICAM1, TINF2, TLR3, TLR7, TLR8, TMC6, TMC8, TNFAIP3, TNFRSF1A, TNFRSF4, TNFRSF9, TNFRSF11A, TNFRSF13B, TNFRSF13C, TOM1, TOP2B, TPP2, TRAF3IP2, TREX1, TRIM22, TRNT1, TTC7A, TYK2, UNC13D, UNC93B1, UNC119, UNG, USB1, USP18, VPS13B, VPS45, WAS, WDR1, WIPF1, XIAP, ZAP70, ZBTB24, ZNF341, ZNFX1