. Defects of innate immunity .

Invasive Bacterial Infections, Predisposition panel [6 genes]

Predisposition to invasive bacterial infections is a PID characterized by defects in genes involved in bacterial sensing and anti-bacterial effector pathways, including the Toll and Toll-IL-1R pathways of cytokine and interferon (IFN) induction. These pathways are important for innate recognition of pyogenic and gram-negative bacteria.

Clinical features

  • Pyogenic infections
  • Meningitis, arthritis, septicemia
  • No fever
  • Resistant to other infections
  • Onset: infancy

Prevalence

  • Rare
  • Few families described

Service benefits and management

  • Genetic diagnosiis and counselling
  • Immunoglobulin replacement (IVIG)
  • Prophylactic antibiotics

HMOX1, IRAK1, IRAK4, MYD88, RPSA, TIRAP

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