Chronic Granulomatous Disease: A Study of Two Cases with Fungal Infection in Early Infancy

Abstract

Chronic granulomatous disease (CGD) is an inherited primary immunodeficiency disorder, characterized by nicotinamide adenine dinucleotide phosphate oxidase system dysfunction. This will result in patient's susceptibility to recurrent and intractable microbial infections. The disease is usually accompanied with pulmonary infections, followed by an episode of disease-associated abscesses or infections. In the case of facing with recurrent or refractory infections, investigations should begin soon for probable primary or acquired immunodeficiency. Once there is a trace of uncommon organism such as aspergillosis in early life, the need for further evaluations for rule out of CGD will grow. Here, we are going to present 2 cases of CGD in early infancy with manifestation of aspergillosis pneumonia, confirmed by both laboratory data and radiographic findings. The infants were successfully treated with long-term voriconazole and later follow-ups showed favorable regression of lung involvements.