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פאנלים

Immune disorders

GC_25

Last update: 19.01.2026

Primary immune disorders, also referred to as inborn errors of immunity, are inherited conditions affecting innate immunity, adaptive immunity, complement pathways, phagocyte function, immune regulation, or immune homeostasis. Clinical manifestations are highly variable and may include recurrent or severe infections, autoimmunity, autoinflammation, lymphoproliferation, cytopenias, severe allergy, and other manifestations of immune dysfunction.

This broad panel includes genes associated with the major categories of inborn errors of immunity, including combined immunodeficiencies, predominantly antibody deficiencies, complement defects, phagocytic disorders, immune dysregulation syndromes, autoinflammatory disorders, and syndromic immunodeficiencies.

This panel is recommended for patients with suspected inherited immune disease, particularly when the presentation is complex, multisystem, or does not clearly correspond to a single specific immunodeficiency or immune dysregulation syndrome.
11q23del, ABCB7, ABCG5, ABCG8, ACD, ACP5, ACTB, ACTG1, ACTN1, ADA, ADA2, ADAM17, ADAMTS13, ADAMTS3, ADAR, ADAR1, ADGRE2, ADIPOQ, ADIPOR1, ADIPOR2, AGR2, AICDA, AIRE, AK2, AK7, ALAS2, ALG6, ALPI, ALPK1, ANGPT1, ANKRD11, ANKRD26, ANKZF1, AP1S3, AP3B1, AP3D1, APOL1, ARHGEF1, ARPC1B, ARPC5, ASAH1, ATAD3A, ATG4A, ATM, ATP6AP1, ATR, ATRX, B2M, BACH2, BCL10, BCL11B, BCO1, BLM, BLNK, BLOC1S3, BLOC1S6, BRAF, BRIP1, BTK, C1, C11ORF70, C15ORF41, C17ORF62, C1QA, C1QB, C1QBP, C1QC, C1R, C1S, C2, C21ORF59, C2orf69, C3, C3AR1, C4A, C4B, C4BPA, C4BPB, C5, C5AR1, C5AR2, C6, C7, C8A, C8B, C8G, C9, CARD11, CARD14, CARD8, CARD9, CARMIL2, CASP10, CASP8, CAVIN1, CBL, CBLB, CCBE1, CCDC103, CCDC39, CCDC40, CCDC65, CCNK, CCNO, CCR2, CD19, CD247, CD27, CD274, CD28, CD3D, CD3E, CD3G, CD4, CD40, CD40LG, CD46, CD55, CD59, CD70, CD79A, CD79B, CD81, CD8A, CD93, CDAN1, CDC42, CDCA7, CDK9, CDKN2A, CEBPA, CEBPE, CENPF, CEP164, CFAP298, CFB, CFD, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CFP, CFTR, CHD7, CHEK2, CHUK, CIB1, CIITA, CLCN7, CLEC7A, CLPB, COG6, COL7A1, COLEC11, COPA, COPG1, CORO1A, CR2, CRACR2A, CREBBP, CRP, CSF2RA, CSF2RB, CSF3R, CSFR2B, CTC1, CTLA4, CTNNBL1, CTPS1, CTSC, CXCR2, CXCR4, CYBA, CYBB, CYBC1, CYCS, CYP27A1, DBF4, DBR1, DCLRE1B, DCLRE1C, DDX11, DDX41, DDX58, DEF6, DGAT1, DGKE, DHFR, DIAPH1, DKC1, DNAAF1, DNAAF11, DNAAF2, DNAAF3, DNAAF4, DNAAF5, DNAAF6, DNAH1, DNAH11, DNAH5, DNAH8, DNAH9, DNAI1, DNAI2, DNAJB13, DNAJC21, DNAL1, DNASE1L3, DNASE2, DNMT3B, DOCK11, DOCK2, DOCK8, DPP9, DRC1, DSG1, DTNBP1, DUOX2, DUT, EFL1, EIF2AK3, ELANE, ELF4, EP300, EPCAM, EPG5, EPO, ERBIN, ERCC2, ERCC3, ERCC4, ERCC6L2, ERN1, ETV6, EXTL3, F12, FAAP100, FAAP24, FADD, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FAS, FASLG, FAT4, FCGR3A, FCHO1, FCN1, FCN2, FCN3, FERMT1, FERMT3, FGL2, FLG, FLI1, FLNA, FLT3LG, FMNL2, FNIP1, FOXI3, FOXN1, FOXP3, FPR1, FYB1, G6PC1, G6PC3, G6PD, GAS2L2, GAS8, GATA1, GATA2, GBA, GCC2, GFI1, GFI1B, GIMAP5, GIMAP6, GINS1, GINS4, GLRX5, GMCSF, GNAI2, GNE, GP1BA, GP1BB, GP9, GTF2E2, GTF2H5, GTF3A, GUCY2C, HAVCR2, HAX1, HCK, HELLS, HMOX1, HNRNPK, HOXA11, HPS1, HPS3, HPS4, HPS5, HPS6, HRAS, HSPA1L, HSPA9, HTRA2, HYDIN, HYOU1, ICOS, ICOSLG, IFIH1, IFN, IFNAR1, IFNAR2, IFNG, IFNGR1, IFNGR2, IFNs, IGHM, IGKC, IGLL1, IKBKB, IKBKE, IKBKG, IKZF1, IKZF2, IKZF3, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL12RB2, IL17A, IL17F, IL17RA, IL17RC, IL18BP, IL1R1, IL1RN, IL21, IL21R, IL23R, IL27, IL27RA, IL2RA, IL2RB, IL2RG, IL36RN, IL6, IL6R, IL6ST, IL7, IL7R, INO80, IPO8, IRAK1, IRAK4, IRF1, IRF2BP2, IRF3, IRF4, IRF7, IRF8, IRF9, ISG15, ITCH, ITGA2, ITGA2B, ITGAV, ITGB2, ITGB3, ITK, ITPKB, ITPR3, IVNS1ABP, JAGN1, JAK1, JAK2, JAK3, KARS1, KAT6A, KCNA5, KDM1A, KDM6A, KIF23, KLF1, KMT2A, KMT2D, KRAS, LACC1, LAMTOR2, LAT, LCK, LCP2, LCT, LIG1, LIG4, LIPA, LPIN2, LRBA, LRRC56, LRRC8A, LSM11, LY96, LYN, LYST, LZTR1, MAD2L2, MAGT1, MALT1, MAN2B1, MAN2B2, MANBA, MAP1LC3B2, MAP2K1, MAP2K2, MAP3K14, MAP3K8, MAP3K9, MAPK8, MASP1, MASP2, MASTL, MAT2A, MBL2, MCIDAS, MCM10, MCM4, MCTS1, MECOM, MEFV, MLH1, MLPH, MOGS, MPEG1, MPL, MPLKIP, MPO, MRAS, MRE11, MRTFA, MS4A1, MSH2, MSH6, MSN, MTHFD1, MTR, MVK, MYD88, MYH9, MYO5A, MYO5B, MYSM1, NAF1, NBAS, NBEAL2, NBN, NCF1, NCF2, NCF4, NCKAP1L, NCSTN, NEUROG3, NF1, NFAT5, NFATC1, NFATC2, NFE2L2, NFIL3, NFKB1, NFKB2, NFKBIA, NHEJ1, NHP2, NLRC4, NLRP1, NLRP12, NLRP3, NME8, NOD2, NOP10, NOS2, NOTCH2, NPC1, NRAS, NSMCE2, NSMCE3, NUDCD3, NUP214, OAS1, OAS2, ODAD1, ODAD2, ODAD3, OFD1, ORAI1, OSTM1, OTUD6B, OTULIN, PALB2, PARN, PAX1, PAX5, PDCD1, PEPD, PGM3, PI4KA, PIGA, PIK3CD, PIK3CG, PIK3R1, PLCG1, PLCG2, PLEKHM1, PLG, PLVAP, PMM2, PMVK, PNLIP, PNP, POLA1, POLD1, POLD2, POLD3, POLE, POLE1, POLE2, POLR3A, POLR3C, POLR3F, POMP, POT1, POU2AF1, PPP1CB, PRF1, PRG4, PRIM1, PRKACG, PRKCD, PRKDC, PSEN1, PSENEN, PSMA3, PSMB10, PSMB4, PSMB8, PSMB9, PSMD12, PSMG2, PSTPIP1, PTCRA, PTEN, PTPN11, PTPN2, PTPRC, PTX3, PUS1, QSOX2, RAB27A, RAC2, RAD50, RAD51, RAD51C, RAF1, RAG1, RAG2, RANBP2, RAP1A, RAP1B, RASA2, RASGRP1, RBCK1, RBM8A, RC3H1, RECQL4, REL, RELA, RELB, REXO2, RFWD3, RFX5, RFXANK, RFXAP, RHBDF2, RHOG, RHOH, RIPK1, RIPK3, RIT1, RMRP, RNASEH2A, RNASEH2B, RNASEH2C, RNASEL, RNF113A, RNF168, RNF31, RNU4ATAC, RNU7-1, RNU71, RORC, RPGR, RPL10, RPL11, RPL15, RPL18, RPL19, RPL26, RPL27, RPL35A, RPL36, RPL5, RPL9, RPS10, RPS14, RPS15, RPS15A, RPS19, RPS24, RPS26, RPS27, RPS27A, RPS28, RPS29, RPS7, RPSA, RRAS, RSPH1, RSPH3, RSPH4A, RSPH9, RTEL1, RUNX1, SAMD9, SAMD9L, SAMHD1, SAR1B, SASH3, SBDS, SBF2, SCGN, SCO2, SEC23B, SEC61A1, SEMA3E, SERPING1, SGPL1, SH2B3, SH2D1A, SH3BP2, SH3KBP1, SHARPIN, SHOC2, SI, SIAE, SKIV2L, SLC10A2, SLC19A1, SLC19A2, SLC25A38, SLC26A3, SLC29A3, SLC30A2, SLC35A1, SLC35C1, SLC37A4, SLC39A4, SLC39A7, SLC46A1, SLC51B, SLC5A1, SLC7A7, SLC9A3, SLCO2A1, SLFN14, SLX4, SMARCAL1, SMARCD2, SNORA31, SNX10, SOCS1, SOS1, SOS2, SP110, SPAG1, SPI1, SPINK5, SPINT2, SPPL2A, SPRED1, SRC, SRP19, SRP54, SRP72, SRPRA, STAT1, STAT2, STAT3, STAT4, STAT5B, STAT6, STIM1, STING1, STK36, STK4, STN1, STX11, STX3, STXBP2, STXBP3, SYK, TAFAZZIN, TAOK2, TAP1, TAP2, TAPBP, TASP1, TBK1, TBX1, TBX2, TBX21, TCF3, TCIRG1, TCN2, TERC, TERF2, TERF2IP, TERT, TET2, TFRC, TGFB1, TGFBR1, TGFBR2, THBD, THPO, THRA, THRB, TICAM1, TIMM50, TINF2, TIRAP, TLR3, TLR4, TLR7, TLR8, TMC6, TMC8, TMEFF1, TMPRSS15, TNFAIP3, TNFRSF11A, TNFRSF13B, TNFRSF13C, TNFRSF1A, TNFRSF4, TNFRSF6B, TNFRSF9, TNFSF11, TNFSF12, TNFSF13, TNFSF9, TONSL, TOP2B, TP53, TP63, TPP2, TRAC, TRADD, TRAF3, TRAF3IP2, TREX1, TRIM22, TRNT1, TSR2, TTC37, TTC7A, TUBB1, TYK2, UBA1, UBE2T, UNC13D, UNC45A, UNC93B1, UNG, USB1, USP18, VAV1, VPS13B, VPS45, VSIG4, VTN, WAS, WDR1, WIPF1, WNT2B, WRAP53, XIAP, XRCC2, ZAP70, ZBTB24, ZCCHC8, ZMYND10, ZNF341, ZNFX1

ClinVar P/LP variants (IDs) not covered: ANKRD11:[1341548] | ATM:[4169743]; [3802353]; [3325980]; [2121591]; [3802702] | CFTR:[1705266]; [3385381]; [3572906]; [818230]; [4279028] | CHEK2:[2035246] | DNAI1:[4526740] | ETV6:[4020046] | GNE:[4068787] | HPS1:[4077138] | IL1RN:[14674] | LYST:[3602577] | MAN2B1:[3024226] | MSH2:[2453487] | NF1:[242478]; [3404745] | OFD1:[375728] | POT1:[3226648] | PTEN:[2587202] | RAD51C:[3228945]; [2625143]


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