Chronic Granulomatous Disease

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Presentation :

• Repeated episodes of cellulitis or skin abscesses, pneumonia, and suppurative lymphadenitis dating to childhood
  • Most commonly involved organisms are Aspergillus, Staphylococcus aureus, Burkholderia cepacia, and Nocardia

Pathophysiology :

• An inherited primary immunodeficiency involving impaired killing of microbes following phagocytosis by leukocytes

Diagnostic Testing:

• Flow cytometric oxidative (respiratory) burst assay to detect impaired oxygen radical production using dihydrorhodamine 123 (DHR) or nitroblue tetrazolium (NBT)
• Siblings should be screened

Treatment :

• Continuous prophylactic antibiotics, primarily Bactrim DS PO BID.
  • Oral antifungals are given as primary prophylaxis or are added if fungal infections occur even once: primarily itraconazole, voriconazole, posaconazole
• Granulocyte transfusions can be lifesaving when infections are severe.

Prognosis:

References: