. Defects of innate immunity .
Predisposition to fungal infections is a PID characterized by defects in genes controlling the sensing and killing of fungi. The affected pathways include the sensors and adaptors C-type lectins, Dectins, CARDs, and Th17-dependent immune effectors.
- Chronic mucocutaneous candidiasis (CMC)
- Invasive fungal infections (CNS candidiasis)
- Onset: infancy, adulthood
- 1:100,000 (CMC)
Service benefits and management
- Genetic diagnosis and counselling
- Systemic antifungals
AIRE, CARD9, CLEC7A, IL12B, IL12RB1, IL17F, IL17RA, IL17RC, MPO, REL, RORC, STAT1, STAT3, TRAF3IP2, ZNF341