• A 7-year-old presents to the pediatrician with a “white tongue.” On physical exam, he has notable thrush in his oral mucosa. His past medical history includes chronic diaper rash as a baby. It is otherwise unremarkable. Physical exam shows malformed nails on two fingers, consistent with onychomycosis. Labs are within normal limits. He is started on fluconazole.
  • Primary immunodeficiency from dysfunction of T-cells
  • Recurrent infections with noninvasive Candida albicans
  • May also be susceptible to other bacterial and viral infections
  • Genetics
    • familial autosomal recessive
    • sporadic autosomal dominant
  • Pathogenesis
    • absent T-cell proliferation
    • autoimmune regulator deficiency (AIRE)
  • Associated conditions
    • autoimmune diseases
      • notably endocrinopathies
  • Symptoms due to C. albicans infection of the following
    • skin
    • oral mucosa
      • thrush
    • nails
    • diaper area in infants
  • All patients should be evaluated for other immunodeficiencies
    • CBC (normal in chronic mucocutaneous candidiasis [CMC])
    • Ig levels (normal in CMC)
  • Absent in vitro response of T-cells to Candida antigen
  • Absent cutaneous reaction to Candida antigen
  • Genetic testing for mutations
Differential Diagnosis
  • SCID
  • Immunodeficiency caused by HIV
  • Chronic therapy with fluconazole
Prognosis, Prevention, and Complications
  • Prognosis
    • normal
  • Complications
    • severe lung infections
    • sepsis

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