. Defects of innate immunity .

Defects in Intrinsic & Innate Immunity panel [67 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.

Clinical features

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

Prevalence

  • Unknown
  • ~1.5% of reported PIDs

Service benefits and management

  • Genetic diagnosis and counselling
  • Hematopoietic stem cell transplantation (HSCT)
  • Recombinant cytokines
  • Antimicrobials (treatment & prophylactic)

AIRE, APOL1, CARD9, CCL2, CFTR, CLCN7, CLEC7A, CXCR4, CYBB, DOCK8, FCGR3A, HMOX1, IFIH1, IFNAR2, IFNGR1, IFNGR2, IL10, IL10RA, IL10RB, IL12B, IL12RB1, IL17F, IL17RA, IL17RC, IRAK1, IRAK4, IRF3, IRF7, IRF8, ISG15, JAK1, MC3R, MCM2, MPO, MRC1, MYD88, NBAS, NCSTN, OSTM1, PLEKHM1, PSEN1, PSENEN, RANBP2, REL, RORC, RPSA, SLC11A1, SNX10, STAT1, STAT2, STAT3, TBK1, TCIRG1, TICAM1, TIRAP, TLR1, TLR2, TLR3, TMC6, TMC8, TNFRSF11A, TNFSF11, TRAF3, TRAF3IP2, TYK2, UNC93B1, ZNF341

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