Backgrounds:

Invasive fungal infections are an important cause of mortality in patients with chronic granulomatous disease (CGD). In this study, we aimed to determine the incidence and the prognosis of invasive mold infections in CGD cases followed in our center.

Methods

All CGD cases followed up in the Marmara University School of Medicine, Division of Pediatric Immunology, between 2007 and 2021 were included. Demographic and clinical characteristics, primary antifungal prophylaxis regimen, and if mold-associated invasive fungal infection (mIFI) is seen, the type, treatment, prognosis, and secondary prophylaxis regimen used for mIFI were analyzed retrospectively.

Results:

Thirty-one patients with CGD were included.All patients were diagnosed with CGD via the DihydroRodamin test. Twenty-five(80.6%) patients were male. CGD was X-linked in 13 patients and autosomal recessive in 14 patients.The median age at diagnosis of CGD was 51.6(min:2, max:302) months. Allogeneic hematopoietic stem cell transplantation was performed in 5 patients.

Fifteen mIFI attacks were detected in 14 of 31 patients. The type of mIFI was proven in 4, probable in 2, and possible in 8 patients. Median mIFI age was 94.7(min:3,max:331) months. A total of 3 patients died, two of them were due to mIFI. Of those with mIFI, 5(35.8%) were autosomal recessive and 9(64.2%) were X-linked. Ten patients were diagnosed with CGD while investigating the mIFI episode, and mIFI was detected in the other four patients under itraconazole prophylaxis.

Conclusions/Learning Points:

In this study, we revealed the overburden of mIFI in our CGD cases.A prophylaxis regimen with an agent with better mold activity can be considered as a measure to reduce the burden of mIFI.The second phase of this study continues on a multicenter basis, as the experience of a single center is insufficient to make this recommendation.