Defects in intrinsic and innate immunity [138 genes]

Defects in innate and intrinsic immunity are produced by alterations in genes controlling the development, structure, or function of innate immune-related components and cells. Innate immunity is the first line of defence against pathogens and its alteration results in a varied group of clinical conditions characterized predominantly by increased susceptibility to microbes. These conditions are caused by defects in genes that encode interferons, Toll-like receptors, NOD-like receptors, and genes involved in Th1 and Th17 signalling, among other innate immune pathways.

  • Severe, recurrent and invasive microbial infections
  • Onset: childhood and adulthood

  • Unknown
  • ~1,5% of reported PIDs

  • Diagnosis and genetic counseling
  • Hematopoietic stem cell transplantation (HSCT)
  • Recombinant cytokines
  • Antimicrobials (treatment and prophylaxis)

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Defects in intrinsic and innate immunity

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Technique: NGS capture panel

Turnaround time (TAT): 25 days

Ref. S-202110265

Defects in intrinsic and innate immunity: View panel
  • ADAMTS13
  • AIRE
  • AP3B1
  • APOL1
  • BLM
  • CARD9
  • CASP8
  • CCDC88B
  • CCL2
  • CD27
  • CFTR
  • CLCN7
  • CLEC7A
  • CTLA4
  • CTSC
  • CXCR4
  • CYBB
  • DCLRE1C
  • DKC1
  • DOCK8
  • ELANE
  • FCGR3A
  • FERMT3
  • GATA2
  • GINS1
  • HMOX1
  • IFIH1
  • IFNAR1
  • IFNAR2
  • IFNG
  • IFNGR1
  • IFNGR2
  • IKBKG
  • IKZF1
  • IL10
  • IL10RA
  • IL10RB
  • IL12B
  • IL12RB1
  • IL12RB2
  • IL17F
  • IL17RA
  • IL17RC
  • IL21R
  • IL2RA
  • IL2RG
  • IRAK1
  • IRAK4
  • IRF3
  • IRF7
  • IRF8
  • IRF9
  • ISG15
  • ITGB2
  • ITK
  • JAK1
  • JAK3
  • LAMTOR2
  • LCK
  • LRBA
  • LYST
  • MAGT1
  • MAP3K14
  • MC3R
  • MCM2
  • MCM4
  • MECP2
  • MPO
  • MRC1
  • MTHFD1
  • MYD88
  • MYH9
  • NBAS
  • NCSTN
  • NLRC4
  • NLRP12
  • NLRP3
  • ORAI1
  • OSTM1
  • PIK3CG
  • PLCG2
  • PLEKHM1
  • PRF1
  • PRKCD
  • PSENEN
  • RAB27A
  • RAG1
  • RAG2
  • RANBP2
  • RASGRP1
  • REL
  • RIPK1
  • RORC
  • RPSA
  • RTEL1
  • SAMD9
  • SBDS
  • SH2D1A
  • SLC11A1
  • SNX10
  • SPINK5
  • STAT1
  • STAT2
  • STAT3
  • STAT4
  • STAT5B
  • STIM1
  • STK4
  • STX11
  • STXBP2
  • TBK1
  • TCIRG1
  • TICAM1
  • TIRAP
  • TLR1
  • TLR2
  • TLR3
  • TLR5
  • TLR7
  • TLR8
  • TLR9
  • TMC6
  • TMC8
  • TNFRSF11A
  • TNFSF11
  • TRAF1
  • TRAF2
  • TRAF3
  • TRAF3IP2
  • TTC7A
  • TYK2
  • UNC13D
  • UNC93B1
  • WAS
  • WIPF1
  • XIAP
  • ZAP70
  • ZNF341

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. IUIS Scientific Committee. Primary Immunodeficiency Diseases. Vol 118. (Rezaei N, Aghamohammadi A, Notarangelo LD, eds.). Berlin, Heidelberg: Springer Berlin Heidelberg; 2017. doi:10.1007/978-3-662-52909-6
  2. Iwasaki A, Medzhitov R. Control of adaptive immunity by the innate immune system. Nat Immunol. 2015;16(4):343-353. doi:10.1038/ni.3123
  3. Modell V, Quinn J, Orange J, Notarangelo LD, Modell F. Primary immunodeficiencies worldwide: an updated overview from the Jeffrey Modell Centers Global Network. Immunol Res. 2016 Jun;64(3):736-53. doi:10.1007/s12026-016-8784-z.
  4. Notarangelo LD. Primary immunodeficiencies. J Allergy Clin Immunol. 2010;125(2 SUPPL. 2):S182-S194. doi:10.1016/j.jaci.2009.07.053