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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 but serious fungal infections in patients with chronic granulomatous disease, a genetic immune disorder. Researchers analyzed 122 cases of non-Aspergillus fungal infections from French hospitals and published literature, finding that these infections often occur despite preventive antifungal medications and are challenging to diagnose. The infections were found in the lungs most commonly but could spread to bones, brain, and other organs, with treatments including antifungal drugs, surgery, and in some cases bone marrow transplants.

Background

Non-Aspergillus invasive fungal infections (NAFI) are increasingly reported in chronic granulomatous disease (CGD) patients, but precise clinical descriptions remain scarce. CGD is associated with the highest lifetime incidence of invasive fungal infections among primary immunodeficiencies. Despite antifungal prophylaxis, invasive fungal infections remain a leading cause of death in CGD patients.

Objective

To provide a thorough description of NAFI in CGD patients through retrospective analysis of cases from the French National Registry of Primary Immunodeficiencies (CEREDIH) combined with a comprehensive literature review.

Results

Identified 16 proven NAFI from 263 CGD patients in CEREDIH cohort plus 106 additional cases from literature review. Mold NAFI occurred at median age 17 years, mostly pulmonary (79%), with 59% breakthrough infections and 24% receiving immunosuppression. Yeast infections occurred at median age 5 years, 36% receiving immunosuppression, 64% disseminated. HSCT cured 9 mold and 2 yeast NAFI cases. Overall mortality was 25% for mold and 26% for yeast infections.

Conclusion

NAFI in CGD patients are frequently severe, often occur despite prophylaxis and under immunosuppression, require invasive procedures for diagnosis, and may be effectively managed with HSCT. Lung surgical biopsies yielded the highest diagnostic rate compared to less invasive methods.
  • Published in:Journal of Clinical Immunology,
  • Study Type:Retrospective Cohort Analysis with Literature Review,
  • Source: PMID: 41193884, DOI: 10.1007/s10875-025-01903-0
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