. Defects of innate immunity .

Fungal Infections, Predisposition panel [15 genes]

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.

Clinical features

  • Chronic mucocutaneous candidiasis (CMC)
  • Invasive fungal infections (CNS candidiasis)
  • Onset: infancy, adulthood

Prevalence

  • Rare
  • 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

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Cerrar