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JOURNAL ARTICLE
RESEARCH SUPPORT, N.I.H., INTRAMURAL
REVIEW
Invasive fungal infection in chronic granulomatous disease: insights into pathogenesis and management.
Current Opinion in Infectious Diseases 2012 December
PURPOSE OF REVIEW: Invasive fungal infections (IFIs) remain a major cause of death in patients with chronic granulomatous disease (CGD). We discuss the new insights into the pathogenesis, diagnosis, prevention, and management of invasive fungal infections in patients with CGD.
RECENT FINDINGS: CGD has the highest prevalence of IFIs among the immunodeficiencies. Infections typically involve the lung, and the most commonly isolated pathogen is Aspergillus spp. However, IFIs due to rare opportunistic filamentous fungi are increasingly reported. Most IFIs are diagnosed on routine chest imaging, and serum markers such as galactomannan and 1,3-β-D-glucan are of limited value in CGD. Routine use of itraconazole for prophylaxis continues to be recommended, although posaconazole may be an alternative. Management of IFIs is typically centered on prolonged courses of antifungal therapy. Surgery may be required for complete resolution, especially in the setting of osteomyelitis or infections due to Aspergillus nidulans or other poorly responsive molds. Hematopoietic stem cell transplantation (HSCT) cures CGD and may be appropriate in select patients with refractory IFIs.
SUMMARY: Management of IFIs in CGD has significantly improved over the last decade. Earlier diagnosis of IFIs, accurate identification of pathogens, and development of reliable susceptibility testing are areas for future emphasis. HSCT is a promising therapy, even during refractory infections in CGD.
RECENT FINDINGS: CGD has the highest prevalence of IFIs among the immunodeficiencies. Infections typically involve the lung, and the most commonly isolated pathogen is Aspergillus spp. However, IFIs due to rare opportunistic filamentous fungi are increasingly reported. Most IFIs are diagnosed on routine chest imaging, and serum markers such as galactomannan and 1,3-β-D-glucan are of limited value in CGD. Routine use of itraconazole for prophylaxis continues to be recommended, although posaconazole may be an alternative. Management of IFIs is typically centered on prolonged courses of antifungal therapy. Surgery may be required for complete resolution, especially in the setting of osteomyelitis or infections due to Aspergillus nidulans or other poorly responsive molds. Hematopoietic stem cell transplantation (HSCT) cures CGD and may be appropriate in select patients with refractory IFIs.
SUMMARY: Management of IFIs in CGD has significantly improved over the last decade. Earlier diagnosis of IFIs, accurate identification of pathogens, and development of reliable susceptibility testing are areas for future emphasis. HSCT is a promising therapy, even during refractory infections in CGD.
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