Disorders of the immune system [549 genes]

This comprehensive panel includes more than 450 genes covering genetic disorders of the immune system. Defects in these genes can cause alterations in immunity. Due to the phenotypic overlap and complexity of these disorders, our broad approach to immunogenetics covers two major groups: Primary Immunodeficiencies (PID), including disorders of innate and adaptive immunity; and Immune Dysregulation Diseases (IDD), encompassing autoimmune and autoinflammatory disorders. In addition, the panel considers overlapping and syndromic conditions in these disorders.

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Disorders of the immune system

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Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-202110258

Disorders of the immune system: View panel
  • ABCB1
  • ACD
  • ACP5
  • ACTB
  • ADA
  • ADA2
  • ADAM17
  • ADAMTS13
  • ADAR
  • ADGRE2
  • AICDA
  • AIRE
  • AK2
  • ALPI
  • ALPK1
  • ANGPT1
  • ANXA11
  • AP1S3
  • AP3B1
  • AP3D1
  • APOL1
  • ARHGEF1
  • ARPC1B
  • ASAH1
  • ATG16L1
  • ATG4A
  • ATM
  • ATP6AP1
  • B2M
  • BACH2
  • BANK1
  • BCL10
  • BCL11B
  • BLK
  • BLM
  • BLNK
  • BLOC1S6
  • BTK
  • BTNL2
  • C17orf62
  • C1QA
  • C1QB
  • C1QC
  • C1QTNF4
  • C1R
  • C1S
  • C2
  • C2orf69
  • C3
  • C4A
  • C4B
  • C5
  • C6
  • C7
  • C8A
  • C8B
  • C8G
  • C9
  • CALCOCO2
  • CARD10
  • CARD11
  • CARD14
  • CARD8
  • CARD9
  • CARMIL2
  • CASP10
  • CASP8
  • CCBE1
  • CCDC88B
  • CCL2
  • CCR1
  • CCR3
  • CCR5
  • CCR9
  • CD14
  • CD19
  • CD226
  • CD247
  • CD27
  • CD36
  • CD3D
  • CD3E
  • CD3G
  • CD4
  • CD40
  • CD40LG
  • CD46
  • CD55
  • CD59
  • CD70
  • CD79A
  • CD79B
  • CD81
  • CD8A
  • CDC42
  • CDCA7
  • CEBPE
  • CFB
  • CFD
  • CFH
  • CFHR1
  • CFHR2
  • CFHR3
  • CFHR4
  • CFHR5
  • CFI
  • CFP
  • CFTR
  • CHD7
  • CIB1
  • CIITA
  • CLCN7
  • CLEC16A
  • CLEC7A
  • CLPB
  • COPA
  • CORO1A
  • CPT2
  • CR1
  • CR2
  • CSF2RA
  • CSF2RB
  • CSF3R
  • CTC1
  • CTLA4
  • CTNNBL1
  • CTPS1
  • CTSC
  • CXCL13
  • CXCR4
  • CXCR5
  • CYBA
  • CYBB
  • DBR1
  • DCLRE1B
  • DCLRE1C
  • DDX41
  • DDX58
  • DEF6
  • DGAT1
  • DGKE
  • DKC1
  • DNAJC21
  • DNASE1
  • DNASE1L3
  • DNASE2
  • DNMT3A
  • DNMT3B
  • DOCK2
  • DOCK8
  • EFL1
  • EGFR
  • EIF2AK2
  • ELANE
  • EPCAM
  • EPG5
  • ERAP1
  • ERBIN
  • ERCC6L2
  • ETS1
  • EXTL3
  • F12
  • FAAP24
  • FADD
  • FAS
  • FASLG
  • FAT4
  • FBLIM1
  • FCGR2A
  • FCGR2B
  • FCGR3A
  • FCGR3B
  • FCHO1
  • FCN3
  • FERMT1
  • FERMT3
  • FNIP1
  • FOXD3
  • FOXN1
  • FOXP3
  • FPR1
  • FUT2
  • G6PC3
  • G6PD
  • GATA1
  • GATA2
  • GFI1
  • GINS1
  • GUCY2C
  • HAS2
  • HAVCR2
  • HAX1
  • HELLS
  • HMOX1
  • HNF1A
  • HTRA2
  • HYOU1
  • ICAM1
  • ICOS
  • ICOSLG
  • IFIH1
  • IFNAR1
  • IFNAR2
  • IFNG
  • IFNGR1
  • IFNGR2
  • IGHM
  • IGKC
  • IGLL1
  • IKBKB
  • IKBKG
  • IKZF1
  • IKZF3
  • IL10
  • IL10RA
  • IL10RB
  • IL12A
  • IL12B
  • IL12RB1
  • IL12RB2
  • IL17F
  • IL17RA
  • IL17RC
  • IL18BP
  • IL18R1
  • IL1RN
  • IL21
  • IL21R
  • IL23A
  • IL23R
  • IL2RA
  • IL2RB
  • IL2RG
  • IL36RN
  • IL37
  • IL6
  • IL6R
  • IL6ST
  • IL7R
  • INAVA
  • INO80
  • IRAK1
  • IRAK4
  • IRF2BP2
  • IRF3
  • IRF4
  • IRF5
  • IRF7
  • IRF8
  • IRF9
  • IRGM
  • ISG15
  • ITCH
  • ITGAM
  • ITGB2
  • ITK
  • ITPKB
  • IVNS1ABP
  • JAGN1
  • JAK1
  • JAK2
  • JAK3
  • KDM6A
  • KIT
  • KLRC4
  • KMT2A
  • KMT2D
  • KNSTRN
  • KRAS
  • LACC1
  • LAMTOR2
  • LAT
  • LCK
  • LCP2
  • LIG1
  • LIG4
  • LIMK2
  • LPIN2
  • LRBA
  • LRP1
  • LRP5
  • LRRC8A
  • LSM11
  • LYST
  • MAGT1
  • MALT1
  • MAN2B1
  • MAP1LC3B2
  • MAP3K14
  • MAPK8
  • MASP1
  • MASP2
  • MBL2
  • MC2R
  • MC3R
  • MCM10
  • MCM2
  • MCM4
  • MECP2
  • MEFV
  • MICA
  • MICB
  • MKL1
  • MMACHC
  • MOGS
  • MPO
  • MS4A1
  • MSH6
  • MSN
  • MST1
  • MTHFD1
  • MVK
  • MYD88
  • MYH9
  • MYO5B
  • MYSM1
  • NBAS
  • NBN
  • NCF1
  • NCF2
  • NCF4
  • NCKAP1L
  • NCSTN
  • NEIL1
  • NEUROG3
  • NFAT5
  • NFE2L2
  • NFKB1
  • NFKB2
  • NFKBIA
  • NHEJ1
  • NHP2
  • NLRC4
  • NLRP1
  • NLRP12
  • NLRP3
  • NOD2
  • NOP10
  • NOS2
  • NPM1
  • NRAS
  • NSMCE3
  • OAS1
  • ORAI1
  • OSTM1
  • OTULIN
  • PARN
  • PAX1
  • PDCD1
  • PDGFRA
  • PEPD
  • PGM3
  • PHF11
  • PI4KA
  • PIK3CD
  • PIK3CG
  • PIK3R1
  • PLA2R1
  • PLCG2
  • PLEKHM1
  • PLG
  • PMS2
  • PNP
  • POLA1
  • POLD1
  • POLD2
  • POLE
  • POLE2
  • POLR3A
  • POLR3C
  • POLR3F
  • POMP
  • PRF1
  • PRKCD
  • PRKD1
  • PRKDC
  • PROC
  • PRPS1
  • PSENEN
  • PSMA3
  • PSMB10
  • PSMB3
  • PSMB4
  • PSMB8
  • PSMB9
  • PSMG2
  • PSTPIP1
  • PTEN
  • PTPN2
  • PTPN22
  • PTPRC
  • RAB27A
  • RAC2
  • RAG1
  • RAG2
  • RANBP2
  • RASGRP1
  • RBCK1
  • RC3H1
  • RECQL4
  • REL
  • RELA
  • RELB
  • RFX5
  • RFXANK
  • RFXAP
  • RHOH
  • RIPK1
  • RMRP
  • RNASEH2A
  • RNASEH2B
  • RNASEH2C
  • RNF168
  • RNF31
  • RNU4ATAC
  • RORC
  • RPSA
  • RTEL1
  • SAA1
  • SAMD9
  • SAMD9L
  • SAMHD1
  • SBDS
  • SEC61A1
  • SEMA3E
  • SERPING1
  • SGPL1
  • SH2D1A
  • SH3BP2
  • SH3KBP1
  • SHOC2
  • SIAE
  • SIK3
  • SKIV2L
  • SLC11A1
  • SLC26A3
  • SLC29A3
  • SLC35C1
  • SLC37A4
  • SLC39A7
  • SLC46A1
  • SLC7A7
  • SLC9A3
  • SMARCAL1
  • SMARCD2
  • SNX10
  • SOCS1
  • SP110
  • SPATA5
  • SPINK5
  • SPINT2
  • SPPL2A
  • SRP54
  • SRY
  • STAT1
  • STAT2
  • STAT3
  • STAT4
  • STAT5B
  • STAT6
  • STIM1
  • STK4
  • STN1
  • STX11
  • STXBP2
  • SYK
  • TAP1
  • TAP2
  • TAPBP
  • TAZ
  • TBK1
  • TBX1
  • TBX2
  • TBX21
  • TCF3
  • TCF7
  • TCIRG1
  • TCN2
  • TERC
  • TERT
  • TET2
  • TFRC
  • TGFB1
  • THBD
  • TICAM1
  • TINF2
  • TIRAP
  • TLR1
  • TLR2
  • TLR3
  • TLR5
  • TLR7
  • TLR8
  • TLR9
  • TMC6
  • TMC8
  • TMEM173
  • TNF
  • TNFAIP3
  • TNFRSF11A
  • TNFRSF13B
  • TNFRSF13C
  • TNFRSF1A
  • TNFRSF4
  • TNFRSF9
  • TNFSF11
  • TNFSF12
  • TNFSF13
  • TNFSF15
  • TNFSF4
  • TNIP1
  • TOM1
  • TOP2B
  • TPP2
  • TRAF1
  • TRAF2
  • TRAF3
  • TRAF3IP2
  • TREX1
  • TRIM21
  • TRIM22
  • TRNT1
  • TTC37
  • TTC7A
  • TYK2
  • UBA1
  • UBAC2
  • UBE2L3
  • UHRF1BP1
  • UNC119
  • UNC13D
  • UNC93B1
  • UNG
  • USB1
  • USP18
  • VPS13B
  • VPS45
  • VTN
  • VWA8
  • WAS
  • WDR1
  • WIPF1
  • WRAP53
  • XIAP
  • ZAP70
  • ZBTB24
  • ZNF341
  • ZNF699
  • ZNFX1

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

References

  1. Casanova, J. L., & Abel, L. (2007). Primary immunodeficiencies: A field in its infancy. Science. https://doi.org/10.1126/science.1142963
  2. Cooper GS, Bynum MLK, Somers EC. Recent insights in the epidemiology of autoimmune diseases: Improved prevalence estimates and understanding of
    clustering of diseases. J Autoimmun. 2009;33(3-4):197-207. doi:10.1016/j.jaut.2009.09.008
  3. Bousfiha A, Jeddane L, Picard C, et al. The 2017 IUIS Phenotypic Classification for Inmunodeficiencias primarias. J Clin Immunol. 2018;38(1):129-143.
    doi:10.1007/s10875-017-0465-8
  4. Lerner A, Jeremias P, Matthias T. The World Incidence and Prevalencia of Autoimmune Diseases is Increasing. Int J Celiac Dis. 2016;3(4):151-155.
    doi:10.12691/ijcd-3-4-8
  5. Rezaei N, Bonilla FA, Sullivan KE, De Vries E, Orange JS. An introduction to primary immunodeficiency diseases. Prim Immunodefic Dis Defin Diagnosis,
    Manag. 2008:1-38. doi:10.1007/978-3-540-78936-9_1