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Fungal Infections – a Stealthy Enemy in Patients with Chronic Granulomatous Disease: a 28-years’ Experience from North India

Summary

Patients with chronic granulomatous disease (CGD), a rare immune system disorder, are highly susceptible to serious fungal infections. This study of 99 patients over 28 years found that 40% developed fungal infections, mostly caused by Aspergillus fungi affecting the lungs. These infections were life-threatening, with over half the infected patients dying despite aggressive treatment with antifungal medications. Doctors need to screen for fungal infections early, even in patients without obvious symptoms, and treat infants and males more aggressively.

Background

Fungal infections contribute significantly to disease burden and mortality in chronic granulomatous disease (CGD) patients. The presentation and spectrum of fungal infections vary depending on genotype and environmental fungal exposure. This study examines the profile of fungal infections in a North Indian CGD cohort over 28 years.

Objective

To analyze the clinical profile, microbiological characteristics, management approaches, and long-term outcomes of fungal infections in patients with CGD. The study aimed to identify risk factors for mortality and determine the spectrum of fungal pathogens in a tropical, densely populated region.

Results

Of 99 CGD patients, 40 (40.4%) had fungal infections; 21 proven and 19 probable. Aspergillus sp. was most common (n=27), followed by Candida sp. (n=5). Pneumonia was the most common presentation (87.5%). Mortality rate was 52.5%, with X-linked CGD, bacterial coinfection, and infancy as significant risk factors.

Conclusion

Aspergillus species, particularly A. fumigatus, is the predominant fungal pathogen in CGD patients from North India with pneumonia being the most common manifestation. Aggressive treatment is warranted for infants, males, and patients with bacterial coinfection. Fungal screening should be performed even in asymptomatic or minimally symptomatic CGD patients.
  • Published in:Journal of Clinical Immunology,
  • Study Type:Retrospective Cohort Study,
  • Source: PMID: 41201521, DOI: 10.1007/s10875-025-01940-9
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