• Prophylaxis with antimicrobial agents and interferon (IFN)-gamma is recommended in all patients with CGD (Strong recommendation), regimens include:
  • trimethoprim/sulfamethoxazole 5-8 mg/kg/day (based on trimethoprim component) orally once or divided evenly twice daily, with maximum daily dose of trimethoprim 160 mg (alternative dicloxacillin 25-50 mg/kg/day orally in 4 divided doses)
  • itraconazole 200 mg/day in patients weighing ≥ 50 kg and 5 mg/kg/day in patients weighing < 50 kg, with maximum daily dose 100 mg
  • IFN-gamma 50 mcg/m2 subcutaneously 3 times weekly

…

• Management of acute infections:
  • Infectious disease consultation is recommended.
  • Empiric antibiotics should be directed at both gram-positive and gram-negative organisms until culture results (obtained from appropriate samples) are available for targeted therapy.
  • In patients with a history of inhalational exposure to mold, voriconazole or posaconazole are indicated after performing diagnostic procedures.
  • Corticosteroids may be administered with antimicrobials in patients with mulch pneumonitis, invasive pulmonary Nocardia infection, or liver abscess.
  • Consider aggressive surgical debridement for abscesses that do not respond to medical therapy (Weak recommendation).
  • Consider granulocyte transfusion as last-resort therapy for life-threatening or refractory infections in patients with CGD (Weak recommendation).

…

• Management of inflammatory manifestations:
  • Balance use of immunosuppressive therapies (typically low-dose corticosteroids and/or nonsteroidal anti-inflammatory drugs) with increased risk of severe infections.
  • For treatment of CGD-associated enteritis or colitis:
    • Give luminal anti-inflammatory therapy with low-dose corticosteroids, typically mesalamine 50 mg/kg/day with prednisone 1 mg/kg/day followed by slow taper.
    • Antimetabolites (methotrexate or azathioprine) may be used for recurrent cases.
    • Avoid TNF inhibitor drugs due to reported risk of severe infections and death.

…

• Consider hematopoietic stem cell transplant (HSCT) early in course of CGD (Weak recommendation).
  • HSCT may prevent infections and inflammatory complications, as well as reduce cumulative exposure to prophylactic medications.
  • HSCT may be indicated to treat severe infections such as:
    • multidrug-resistant or life-threatening infections, especially in those with no residual NADPH oxidase activity
    • refractory invasive fungal disease

…

• Even with prophylactic therapy, patients with CGD are at risk of severe infections.
  • Sepsis has been reported in up to 20% of patients.
  • Invasive fungal infections are the most common cause of death.