. DEFECTS OF INNATE IMMUNITY .

Viral Infections, Predisposition panel [21 genes]

Predisposition to viral infections comprises PIDs that are caused by defects in antiviral sensing and effector pathways, including Toll-like receptor 3 (TLR-3), type I and III interferons (IFNs), STATs, and interferon-stimulated genes. These pathways are critical for virus recognition and inhibition.

Clinical features

  • Herpetic encephalitis (HSE) in childhood
  • Susceptibility to CMV, VZV, HPV
  • Onset: Infancy, adulthood (rare)

Prevalence

  • Rare
  • 1-2:500,000 (HSE)

Service benefits and management

  • Genetic diagnosis and counselling
  • Hematopoietic stem cell transplantation (HSCT)
  • Recombinant IFNs
  • Antivirals

CCL2, CXCR4, FCGR3A, IFIH1, IFNAR2, IL10, IL10RA, IL10RB, IRF3, IRF7, MCM2, STAT1, STAT2, TBK1, TICAM1, TLR3, TMC6, TMC8, TRAF3, TYK2, UNC93B1