. Defects of innate immunity .
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.
- Pyogenic infections
- Meningitis, arthritis, septicemia
- No fever
- Resistant to other infections
- Onset: infancy
- Few families described
Service benefits and management
- Genetic diagnosiis and counselling
- Immunoglobulin replacement (IVIG)
- Prophylactic antibiotics
HMOX1, IRAK1, IRAK4, MYD88, RPSA, TIRAP