Invasive Mould Infections in Chronic Granulomatous Disease: A Multicenter Study From Türkiye

Area of Science:

• Immunology
• Infectious Diseases
• Paediatrics

Background:

• Chronic Granulomatous Disease (CGD) is a rare primary immunodeficiency.
• Invasive mould infections (IMI) are a leading cause of mortality in CGD patients.
• Antifungal prophylaxis has improved outcomes but IMI remains a significant threat.

Purpose of the Study:

• To evaluate the clinical and fungal epidemiology of IMI in CGD patients in Türkiye.
• To explore diagnostic and treatment challenges associated with IMI in CGD.
• To assess the impact of IMI on mortality in CGD patients.

Main Methods:

• Retrospective analysis of 72 CGD patients from 1991-2022 in Türkiye.
• Evaluation of demographics, clinical characteristics, IMI episodes, and antifungal prophylaxis.
• Classification of IMI episodes using European Organisation for Research and Treatment of Cancer/Mycoses Study Group criteria.

Main Results:

• 42 IMI episodes occurred in 39 (54.2%) patients, predominantly affecting the lungs.
• Aspergillus fumigatus was the most common pathogen in proven IMI (28.5%).
• X-linked CGD patients had earlier IMI onset than AR-CGD; 18.0% mortality was linked to IMI.

Conclusions:

• IMI continues to pose a significant burden on CGD patients despite antifungal prophylaxis.
• Limited access to diagnostic modalities and gaps in prophylactic monitoring present challenges.
• Optimized management strategies are crucial for improving outcomes in CGD patients with IMI.