Clinical Features

  • Usual onset by age 2
  • Pneumonia (70%)
  • Adenopathy/adenitis/abscesses (40- 50%)
  • Sepsis (25%)
  • Osteomyelitis (20%)
  • Liver abscess in infant or young child, think CGD until proven otherwise


Common Infecting Organisms

  • Typically catalase-producing - catalase inactivates hydrogen peroxide but catalase production alone is insufficient for pathogenicity because many catalase positive organisms do not cause infection in CGD
  • North America
    • Staphylococcus aureus
    • Staphylococcus epidermidis
    • Burkholderia cepacia
    • Pseudomonas aeruginosa
    • Serratia marcescens
    • Nocardia
    • Aspergillus
  • Outside of North America
    • Frequently: Salmonella and BCG
    • Less frequently: Streptococcus spp., Neisseria meningitidis, Acinetobacter junii, Candida spp., Klebsiella pneumoniae, Mycobacterium tuberculosis, nontuberculous mycobacteria, Proteus spp., Leishmania spp.


Prophylaxis

Antibacterial
  • TMP-SMX (Bactrim 80-400 mg, 160-800 mg, 40-200 mg/5 mL) recommended; TMP without SMX if G6PD deficient or sulfa-allergic (Primsol 100 mg, 200 mg, 50 mg/5 mL)
    • 5 mg/kg/day (TMP component) PO div BID

  • Alternatives: beta-lactamase resistant penicillins (eg, amoxicillin-clavulanic acid), cephalosporins, and fluoroquinolones (adults)
Antifungal
  • Itraconazole (Sporanox 100 mg, 10 mg/mL)
    • 5 mg/kg oral solution PO QD or div BID
Immunomodulator---
Interferon (IFN) gamma-1b (Actimmune 100 mcg/0.5 mL)
  • For children >0.5 m2 (usually >2 years old): 50 mcg/m2 SC 3 times per week
  • For children <0.5 m2 (usually <2 years old): 1.5 mcg/kg SC 3 times per week
  • BSA calculation (Mosteller formula):



References