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

Fungal infections contribute to a significant disease burden in patients with chronic granulomatous disease (CGD). While the presentation may differ depending on genotype and environmental exposure to fungus, associated mortality rates are universally high. This is a retrospective study wherein medical records of patients diagnosed with CGD from 1994 to 2022 at our center in North India were reviewed. We categorized patients into 2 groups: patients with proven invasive fungal infection and patients with probable invasive fungal infections. We analyzed demographic details, clinical details, and the overall outcome of these patients. We identified 40 patients (40.4%) with fungal infections in our cohort of 99 patients with CGD. Twenty-one patients had proven invasive fungal infection, and 19 had probable invasive fungal infection. Pneumonia was the most common presentation in our cohort (n = 35; 87.5%). Two patients had isolated osteomyelitis, 1 had brain abscess, and 2 had candidemia. Aspergillus sp. was isolated most frequently (n = 27), followed by Candida sp. (n = 5), Mucorales sp. (n = 2), Paecilomyces sp. (n = 1) and Fusarium dimerum (n = 1). Aspergillus fumigatus (n = 11) was the most identified species of Aspergillus. Eleven patients had bacterial co-infection. Twenty-one patients (52.5%) died in this cohort. Risk factors for mortality identified are X-linked CGD (p = 0.027), bacterial coinfection (p = 0.003) and infection in infancy (p = 0.045). Aspergillus sp. is the most common offending fungus, and pneumonia is the most common manifestation of fungal infection in our patients with CGD. Infants, males, and patients with bacterial coinfection should be treated more aggressively amongst patients with CGD with fungal infection.