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Consecutive non-Aspergillus Fungal Invasive Infections in Chronic Granulomatous Disease: Data from the French National Reference Center for Primary ImmunoDeficiencies and literature review

Summary

This study examines rare fungal infections in patients with Chronic Granulomatous Disease, a genetic disorder affecting the immune system. Researchers found that these patients develop various unusual fungal infections despite taking preventive antifungal medications. The infections are difficult to diagnose, often requiring surgical procedures, but can sometimes be cured through stem cell transplantation combined with intensive antifungal treatment.

Background

Chronic Granulomatous Disease (CGD) is a primary immunodeficiency with the highest lifetime incidence of invasive fungal infections among primary immunodeficiencies. While Aspergillus species are the most common pathogens, non-Aspergillus fungal infections (NAFI) are increasingly reported but remain poorly characterized in literature.

Objective

To provide a comprehensive description of non-Aspergillus invasive fungal infections in CGD patients through analysis of the French CGD cohort and a systematic literature review.

Results

Identified 16 NAFI cases from French cohort and 106 additional cases from literature (75 molds, 29 yeasts, 2 Pneumocystis/dimorphic). Mold NAFI occurred at median age 17 years, primarily in lungs (79%), with 59% breakthrough infections. Yeast infections occurred at median age 5 years with 36% receiving immunosuppressive treatments. Surgical lung biopsies yielded highest diagnostic rate (39/39). Overall mortality was 25% for molds and 26% for yeasts.

Conclusion

Non-Aspergillus fungal infections in CGD patients are frequently severe, often occur despite prophylaxis and additional immunosuppression, commonly require invasive diagnostic procedures, and can be effectively managed with hematopoietic stem cell transplantation in refractory cases.
  • Published in:Journal of Clinical Immunology,
  • Study Type:Retrospective Cohort Study with Literature Review,
  • Source: PMID: 41193884, DOI: 10.1007/s10875-025-01903-0
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