Orphanet: Prédisposition aux infections fongiques invasives due à un déficit en CARD9
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Predisposition to invasive fungal disease due to CARD9 deficiency

Disease definition

A rare, genetic primary immunodeficiency characterized by increased susceptibility to fungal infections, typically manifesting as recurrent, chronic mucocutaneous candidiasis, systemic candidiasis with meningoencephalitis, and deep dermatophystosis with dermatophytes invading skin, hair, nails, lymph nodes, and brain, resulting in erythematosquamous lesions, nodular subcutaneous or ulcerative infiltrations, severe onychomycosis, and lymphadenopathy.

ORPHA:457088

Classification level: Disorder
  • Synonym(s):
    • Invasive candidiasis-deep dermatophytosis syndrome
  • Prevalence: -
  • Inheritance: Autosomal recessive 
  • Age of onset: -
  • ICD-10: D84.8
  • OMIM: 212050
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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