Immundefizienz/Immundefekt
Zugehörige Erkrankungen
Allgemeine variable Immundefizienz (CVID)
Die allgemeine variable Immundefizienz (CVID) umfasst eine heterogene Gruppe von Krankheiten mit signifikanter, ursächlich ungeklärter Hypogammaglobulinämie, fehlender Bildung spezifischer Antikörper nach Impfungen und Suszeptibilität für bakterielle Infektionen, vor allem mit kapseltragenden Bakterien.
Allgemeine variable Immundefizienz (CVID) Gen-Panel (14 Gene)
CD19, CD81, CR2, CTLA4, ICOS, IL21, MS4A1, MSH5, NFKB1, PIK3CD, STAT3, STXBP2, TNFRSF13B und TNFRSF13C
Kombinierter schwerer Immundefekt (Severe combined immunodeficiency; SCID) Gen-Panel (25 Gene)
ADA, AK2, CD3D, CD3E, DCLRE1C, IL2RG, IL7R, JAK3, LIG4, NHEJ1, PNP, PRKDC, PTPRC, RAG1, RAG2, TCN2, ZAP70, FOXN1, LAT, TBX1, CD247, ORAI1, RAC2, STAT5B und STIM1.
Primäre Immundefizienz (Primary immunodeficiency) Gen-Panel (408 Gene)
ACD, ACP5, ACTB, ADA, ADA2, ADAM17, ADAR, AICDA, AIRE, AK2, AP1S3, AP3B1, AP3D1, APOL1, ARPC1B, ARTN, ATM, ATP6AP1, B2M, BACH2, BCL10, BCL11B, BLM, BLNK, BLOC1S6, BTK, C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4A, C4B, C5, C6, C7, C8A, C8B, C8G, C9, CARD11, CARD14, CARD9, CARMIL2, CASP10, CASP8, CCBE1, CD19, CD247, CD27, CD3D, CD3E, CD3G, CD4, CD40, CD40LG, CD46, CD55, CD59, CD70, CD79A, CD79B, CD81, CD8A, CDCA7, CEBPE, CFB, CFD, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CFP, CFTR, CHD7, CIITA, CLCN7, CLPB, CNBP, COLEC11, COPA, CORO1A, CR2, CSF2RA, CSF2RB, CSF3R, CTC1, CTLA4, CTPS1, CTSC, CXCL10, CXCR4, CYBA, CYBB, DCLRE1B, DCLRE1C, DDX58, DKC1, DNAJC21, DNASE1L3, DNASE2, DNMT3B, DOCK2, DOCK8, ELANE, ELF4, EPCAM, EPG5, ERCC2, ERCC3, ERCC6L2, EXTL3, F12, FAAP24, FADD, FAS, FASLG, FASN, FAT4, FBF1, FCGR1A, FCGR2A, FCGR2B, FCGR3A, FCGR3B, FCGRT, FCN3, FERMT3, FOXN1, FOXP3, FPR1, FPR2, FPR3, G6PC3, G6PD, GAD1, GATA1, GATA2, GFI1, GINS1, GTF2H5, GUCY2C, HAX1, HELLS, HMOX1, HPS1, HPS4, HPS6, HTRA2, HYOU1, ICOS, ICOSLG, IFIH1, IFNAR2, IFNGR1, IFNGR2, IGHG2, IGHM, IGKC, IGLL1, IKBKB, IKBKG, IKZF1, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL17A, IL17F, IL17RA, IL17RC, IL18, IL1RN, IL21, IL21R, IL22, IL23A, IL2RA, IL2RG, IL36RN, IL7R, INO80, IRAK1, IRAK4, IRF2BP2, IRF3, IRF7, IRF8, ISG15, ITCH, ITGAM, ITGB2, ITK, JAGN1, JAK1, JAK3, KDM6A, KMT2A, KMT2D, KRAS, LAMTOR2, LAT, LCK, LIG1, LIG4, LPIN2, LRBA, LRIG1, LRRC8A, LYST, MAGT1, MALT1, MAP3K14, MASP1, MASP2, MBL2, MCM4, MEFV, MOGS, MPI, MPO, MRE11, MRTFA, MS4A1, MS4A2, MSH6, MSN, MTHFD1, MVK, MYD88, MYO5A, MYO5B, MYSM1, NBAS, NBN, NCF1, NCF2, NCF4, NCSTN, NFAT5, NFKB1, NFKB2, NFKBIA, NFKBID, NHEJ1, NHP2, NLRC4, NLRP1, NLRP12, NLRP3, NOD2, NOP10, NRAS, NSMCE3, OFD1, ORAI1, OSTM1, OTULIN, PARN, PEPD, PGM3, PIGA, PIK3CD, PIK3R1, PLCG2, PLEKHM1, PMP22, PMS2, PNP, POLA1, POLE, POLE2, PPY, PRF1, PRKCD, PRKDC, PSEN1, PSENEN, PSMA3, PSMA7, PSMB4, PSMB8, PSMB9, PSTPIP1, PTEN, PTPRC, RAB27A, RAC2, RAG1, RAG2, RANBP2, RASGRP1, RBCK1, RECQL4, RELB, RET, RFX5, RFXANK, RFXAP, RHOH, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNF168, RNF31, RNU4ATAC, RORC, RPSA, RTEL1, SAMD9, SAMD9L, SAMHD1, SART3, SBDS, SEC14L2, SEC14L3, SEMA3E, SERPING1, SGPL1, SH2D1A, SH3BP2, SKIV2L, SLC29A3, SLC35C1, SLC37A4, SLC46A1, SLC7A7, SMARCAL1, SMARCD2, SNX10, SP110, SPINK5, SPNS1, SRP54, SRP72, STAT1, STAT2, STAT3, STAT5A, STAT5B, STIM1, STK4, STN1, STX11, STXBP2, TADA2A, TAP1, TAP2, TAPBP, TAZ, TBK1, TBX1, TCF3, TCF7L1, TCIRG1, TCN2, TERC, TERT, TFRC, THBD, TICAM1, TINF2, TIRAP, TLR3, TMC6, TMC8, TMEM173, TNFAIP3, TNFRSF11A, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF4, TNFSF11, TNFSF12, TPP1, TPP2, TRAC, TRAF3, TRAF3IP2, TREX1, TRNT1, TTC37, TTC7A, TYK2, UNC119, UNC13D, UNC93B1, UNG, USB1, USP18, VPS13B, VPS45, WAS, WDR1, WIPF1, WRAP53, WWTR1, XIAP, ZAP70 und ZBTB24.
