Chronic Granulomatous Disease
also see Phagocyte dysfunction, general

• Genetics: X-linked recessive (60%), Autosomal recessive (40%)
• Defect: NADPH oxidase deficiency
• Phagocytic cells are unable to generate hydrogen peroxide or hydroxyl radicals (superoxides)

  • PMNs unable to kill ingested organisms

Clinical

• Classic presentation: Boy with liver abscess
• Recurrent pyogenic infections of the skin, lungs, bones, liver, and GI tract
• Formation of granulomas and abscesses in the first 2 years of life
• Lymphadenitis, Dermatitis, pneumonia, osteomylelitis at multiple sites, HSM, FTT, Anemia, Chronic Diarrhea
• Common organisms: Catalase + bacteria
• S. Aureus, enteric GNRs (serratia marcesans, B.cepacia, Aspergillus) and fungi

Diagnosis

• NBT test for screening
  • Normal: yellow > purple
  • CGD: Reduced or no color change
• Dihydrorhodaminefluorescence (DHR)
  • Increased fluorescence when oxidized by H2O2

Treatment:

• BMT
• Supportive Care
• Prophylactic TMP/SMX
• Surgical drainage of Abscesses

CHLA Board Review 2005