Immunity and autoimmunology
About this category
Disturbances in the functioning of the immune system have a very diverse genetic background. Primary immunodeficiencies are caused by the absence or impairment of individual components of a nonspecific and specific immune response. A weakened immune system makes you more susceptible to infections and other health problems. Autoinflammatory syndromes occur when the sequence of genes that regulate inflammation is damaged. Autoimmune diseases are characterized by the response of the immune system against the body's own tissues and organs.
All genetic tests are performed using the next-generation sequencing method, using Illumina sequencers. Our tests are subject to internal and external control. The laboratory is subject to continuous external quality control.
Panels in this category
10 panels-
Autoinflammatory disorders
35 genesACP5; ADAR; CARD14; DDX58; ELANE; FAM105B; IFIH1; IL1RN; IL36RN; ISG15; LPIN2; MEFV; MVK; NLRC4; NLRP1; NLRP12; NLRP3; NOD2; PLCG2; POMP; PRG4; PSENEN; PSMB4; PSMB8; PSTPIP1; RNASEH2A; RNASEH2B; RNASEH2C; SAMHD1; SLC29A3; TMEM173; TNFAIP3; TNFRSF1A; TREX1; TRNT1
2194 PLNDetails -
Bone marrow failure
145 genesABCA7; ACD; ACTB; AK2; ANKRD26; AP3B1; ATM; ATR; BLM; BLOC1S3; BLOC1S6; BRAF; BRCA1; BRCA2; BRIP1; CBL; CDKN2A; CEBPA; CLPB; CSF2RA; CSF3R; CTC1; CTSC; CXCR4; DDX41; DKC1; DNAJC21; DNASE2; DTNBP1; EFTUD1; ELANE; EPCAM; ERCC4; ERCC6L2; ETV6; FADD; FANCA; FANCB; FANCC; FANCD2; FANCE; FANCF; FANCG; FANCI; FANCL; FANCM; FAS; G6PC3; GATA1; GATA2; GFI1; GINS1; HAX1; HPS1; HPS3; HPS4; HPS5; HPS6; HRAS; IFNGR2; ITK; JAGN1; JAK2; KRAS; LAMTOR2; LYST; MAGT1; MAP2K1; MAP2K2; MKL1; MLH1; MMP9; MPL; MSH2; MSH6; MSLN; MYO5A; MYSM1; NBEAL2; NBN; NF1; NHP2; NOP10; NRAS; PALB2; PARN; PAX5; PGM3; PML; PMS2; PRF1; PTPN11; RAB27A; RAC2; RAD51C; RARA; RBM8A; RECQL4; RIT1; RPL11; RPL15; RPL31; RPL35A; RPL5; RPS10; RPS17; RPS19; RPS24; RPS26; RPS28; RPS29; RPS7; RTEL1; RUNX1; SAMD9; SAMD9L; SBDS; SH2D1A; SLC37A4; SLX4; SMARCD2; SOS1; SRP54; SRP72; STX11; STXBP2; TCIRG1; TERC; TERT; TET2; THPO; TINF2; TP53; TPMT; UBE2T; UNC13D; USB1; VPS13B; VPS45; WAS; WDR1; WIPF1; WRAP53; XIAP; XRCC2
2194 PLNDetails -
Celiac disease
5 genesCTLA4; HLA-DQA1; HLA-DQB1; MYO9B; NLRP1
1894 PLNDetails -
Complement system disorders
91 genesADIPOQ; ADIPOR1; ADIPOR2; ARMC4; C11orf70; C1QA; C1QB; C1QBP; C1QC; C1R; C1S; C2; C3; C3AR1; C4A; C4B; C4BPA; C4BPB; C5; C5AR1; C5AR2; C6; C7; C8A; C8B; C8G; C9; CCDC103; CCDC114; CCDC39; CCDC40; CCDC65; CCNO; CD46; CD55; CD59; CD93; CFB; CFD; CFH; CFHR1; CFHR3; CFHR5; CFI; CFP; CLU; COLEC10; COLEC11; CR1; CR2; CRP; DGKE; DNAAF1; DNAAF2; DNAAF3; DNAH11; DNAH5; DNAH9; DNAI1; DNAI2; DNAL1; DRC1; DYX1C1; FCN1; FCN2; FCN3; GAS2L2; HEATR2; HYDIN; ITGB2; LRRC6; MASP1; MASP2; MAT2A; MBL2; MCIDAS; NME8; OFD1; PIGA; PTX3; RPGR; RSPH1; RSPH4A; RSPH9; SERPING1; SPAG1; STK36; THBD; VSIG4; VTN; ZMYND10
2194 PLNDetails -
Neutropenia
32 genesACTB; CLPB; CSF2RA; CSF3R; CTSC; ELANE; ELF1; FCGR3A; G6PC3; GATA1; GATA2; GFI1; GFI1B; GINS1; HAX1; IFNGR2; JAGN1; LYST; MFAP5; MKL1; PGM3; RAC2; SBDS; SLC37A4; SMARCD2; SRP54; SRP72; TCIRG1; USB1; VPS13B; VPS45; WAS
2194 PLNDetails -
Periodic fever
12 genesELANE; HAX1; HTR1A; LPIN2; MEFV; MVK; NLRP12; NLRP3; PSTPIP1; TNFRSF1A; TRNT1; WDR1
2194 PLNDetails -
Primary bone marrow insufficiency
145 genesABCA7; ACD; ACTB; AK2; ANKRD26; AP3B1; ATM; ATR; BLM; BLOC1S3; BLOC1S6; BRAF; BRCA1; BRCA2; BRIP1; CBL; CDKN2A; CEBPA; CLPB; CSF2RA; CSF3R; CTC1; CTSC; CXCR4; DDX41; DKC1; DNAJC21; DNASE2; DTNBP1; EFTUD1; ELANE; EPCAM; ERCC4; ERCC6L2; ETV6; FADD; FANCA; FANCB; FANCC; FANCD2; FANCE; FANCF; FANCG; FANCI; FANCL; FANCM; FAS; G6PC3; GATA1; GATA2; GFI1; GINS1; HAX1; HPS1; HPS3; HPS4; HPS5; HPS6; HRAS; IFNGR2; ITK; JAGN1; JAK2; KRAS; LAMTOR2; LYST; MAGT1; MAP2K1; MAP2K2; MKL1; MLH1; MMP9; MPL; MSH2; MSH6; MSLN; MYO5A; MYSM1; NBEAL2; NBN; NF1; NHP2; NOP10; NRAS; PALB2; PARN; PAX5; PGM3; PML; PMS2; PRF1; PTPN11; RAB27A; RAC2; RAD51C; RARA; RBM8A; RECQL4; RIT1; RPL11; RPL15; RPL31; RPL35A; RPL5; RPS10; RPS17; RPS19; RPS24; RPS26; RPS28; RPS29; RPS7; RTEL1; RUNX1; SAMD9; SAMD9L; SBDS; SH2D1A; SLC37A4; SLX4; SMARCD2; SOS1; SRP54; SRP72; STX11; STXBP2; TCIRG1; TERC; TERT; TET2; THPO; TINF2; TP53; TPMT; UBE2T; UNC13D; USB1; VPS13B; VPS45; WAS; WDR1; WIPF1; WRAP53; XIAP; XRCC2
2194 PLNDetails -
Primary immunodeficiency syndromes
Frequently chosen 354 genesACD; ACP5; ACTB; ADA; ADAM17; ADAR; AICDA; AIRE; AK2; ALPI; AP3B1; ARHGEF1; ARPC1B; ATM; ATP6AP1; BACH2; BCL10; BCL11B; BLM; BLNK; BTK; C17orf62; C1QB; C1QC; C1R; C1S; C2; C3; C3AR1; C4A; C4B; C4BPA; C4BPB; C5; C5AR1; C5AR2; C6; C7; C8A; C8B; C8G; C9; CARD11; CARD14; CARD9; CASP10; CASP8; CCDC103; CCDC114; CCDC39; CCDC40; CCDC65; CCNO; CD19; CD247; CD27; CD3D; CD3E; CD3G; CD40; CD40LG; CD46; CD55; CD59; CD70; CD79A; CD79B; CD81; CD8A; CD93; CDCA7; CDK9; CEBPE; CECR1; CFB; CFD; CFH; CFHR1; CFHR3; CFI; CFP; CFTR; CHD7; CIITA; CLCN7; CLPB; CLU; COLEC11; COPA; CORO1A; CR1; CR2; CRP; CSF2RA; CSF2RB; CSF3R; CTC1; CTLA4; CTPS1; CTSC; CXCR4; CYBA; CYBB; DBR1; DCLRE1C; DDX58; DGKE; DKC1; DNAAF1; DNAAF2; DNAAF3; DNAH11; DNAH5; DNAI1; DNAI2; DNAJC21; DNAL1; DNASE2; DNMT3B; DOCK2; DOCK8; DRC1; DYX1C1; EFTUD1; ELANE; EPG5; ERCC6L2; EXTL3; FADD; FAM105B; FAS; FASLG; FCHO1; FCN1; FCN2; FCN3; FERMT3; FOXN1; FOXP3; G6PC3; G6PD; GATA2; GFI1; GINS1; HAX1; HEATR2; HELLS; HYDIN; HYOU1; ICOS; IFIH1; IFNAR2; IFNGR1; IFNGR2; IGHM; IGLL1; IKBKG; IKZF1; IL10; IL10RA; IL10RB; IL12B; IL12RB1; IL17RA; IL17RC; IL1RN; IL21; IL21R; IL23R; IL2RA; IL2RB; IL2RG; IL36RN; IL6ST; IL7; IL7R; IRAK4; IRF2BP2; IRF8; ISG15; ITGB2; ITK; JAGN1; JAK1; JAK3; KRAS; LAMTOR2; LAT; LCK; LIG1; LIG4; LPIN2; LRBA; LRRC6; LYST; MAGT1; MALT1; MAP3K14; MASP1; MASP2; MAT2A; MEFV; MKL1; MOGS; MRE11A; MSN; MVK; MYD88; MYO5A; NBN; NCF1; NCF2; NCF4; NCSTN; NDNL2; NFKB1; NFKB2; NFKBIA; NHEJ1; NHP2; NLRC4; NLRP1; NLRP12; NLRP3; NME8; NOD2; NOP10; NRAS; OFD1; ORAI1; PARN; PEPD; PGM3; PIGA; PIK3CD; PIK3R1; PLCG2; PMS2; PNP; POLD1; POLE; POLE2; POMP; PRF1; PRG4; PRKDC; PSENEN; PSMB8; PSTPIP1; PTPRC; PTX3; RAB27A; RAC2; RAG1; RAG2; RASGRP1; RBCK1; RECQL4; RELA; RFX5; RFXANK; RFXAP; RHOH; RIPK1; RLTPR; RMRP; RNASEH2A; RNASEH2B; RNASEH2C; RNF168; RNF31; RNU4ATAC; RORC; RPGR; RPSA; RSPH1; RSPH4A; RSPH9; RTEL1; SAMD9; SAMD9L; SAMHD1; SBDS; SERPING1; SH2D1A; SLC29A3; SLC35C1; SLC37A4; SLC39A7; SLC46A1; SLC7A7; SMARCAL1; SMARCD2; SP110; SPAG1; SPINK5; SPPL2A; SRP54; SRP72; STAT1; STAT2; STAT3; STAT4; STAT5B; STIM1; STK4; STX11; STXBP2; TAP1; TAP2; TAPBP; TBX1; TCF3; TCIRG1; TCN2; TERC; TERT; TGFB1; THBD; TINF2; TMC6; TMC8; TMEM173; TNFAIP3; TNFRSF13B; TNFRSF1A; TNFRSF4; TNFRSF9; TRAC; TRAF3IP2; TREX1; TRNT1; TTC37; TTC7A; TYK2; UNC119; UNC13D; UNC93B1; UNG; USB1; USP18; VPS13B; VPS45; VSIG4; VTN; WAS; WDR1; WIPF1; WRAP53; XIAP; ZAP70; ZBTB24; ZMYND10; ZNF341
2194 PLNDetails -
Severe Combined Immunodeficiency Syndrome
83 genesADA; AK2; ATM; BCL11B; BLM; CARD11; CD247; CD27; CD3D; CD3E; CD3G; CD40; CD40LG; CD8A; CIITA; CORO1A; DCLRE1C; DNMT3B; DOCK8; EPG5; FOXN1; IFNGR1; IKBKG; IL12RB1; IL2; IL2RA; IL2RG; IL7R; IRF8; ITGB2; ITK; JAK3; LAT; LCK; LIG4; LRBA; MAGT1; MALT1; MAP3K14; MSN; NDNL2; NHEJ1; ORAI1; PARN; PGM3; PIK3CD; PMS2; PNP; POLE; POLE2; PRKDC; PTPRC; RAC2; RAG1; RAG2; RFX5; RFXANK; RFXAP; RHOH; RMRP; RTEL1; SH2D1A; SMARCAL1; SP110; SPINK5; STAT1; STAT2; STAT3; STAT4; STAT5B; STIM1; STK4; TAP1; TAP2; TAPBP; TBX1; TFRC; TNFRSF4; TRAC; TYK2; UNC119; WAS; ZAP70
2194 PLNDetails -
VEO-IBD - Very Early Onset Inflammatory Bowel Disease
75 genesADA; ADAM17; AICDA; ALPI; ARPC1B; BTK; CASP8; CD3G; CD40LG; CD55; COL7A1; CTLA4; CYBA; CYBB; DCLRE1C; DKC1; DOCK8; FERMT1; FOXP3; G6PC3; GUCY2C; HPS1; HPS4; HPS6; ICOS; IKBKG; IL10; IL10RA; IL10RB; IL21; IL2RA; IL2RB; IL2RG; ITCH; ITGB2; LIG4; LRBA; MALT1; MASP2; MVK; NCF1; NCF2; NCF4; NLRC4; NPC1; PIK3CD; PIK3R1; PLCG2; POLA1; RAG1; RAG2; RIPK1; RTEL1; SH2D1A; SKIV2L; SLC37A4; SLC9A3; SLCO2A1; STAT1; STAT3; STIM1; STXBP2; STXBP3; TGFB1; TGFBR1; TGFBR2; TNFAIP3; TRIM22; TRNT1; TTC37; TTC7A; WAS; XIAP; ZAP70; ZBTB24
2994 PLNDetails
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