Chronic Granulomatous Disease (CGD): Presentation at Diagnosis and Burkholderia Colonization

Abstract

Chronic Granulomatous Disease (CGD) is a primary immune disorder characterized by serious and recurrent infections. The clinical presentation and diagnosis of this immune disease is often delayed since the hallmark infections such as pneumonia are associated with Pediatric isolated illnesses. This study reviewed the presenting initial clinical features of CGD utilizing a retrospective search and review of clinical medical charts and clinical data. The purpose of the study was to identify patients with Burkholderia respiratory infection, and to describe the clinical presentation of the disease among a Pediatric population.The study was approved by the IRB as a retrosepctive chart review study. The study identified that respiratory disease was found among 62.5% of the 16 patients who had early diagnosis medical information documented. Additionally, the mean levels of inflammatory markers were elevated. Burkholderia infection was not common presenting features, based on this analysis. The early presentation of Pediatric CGD is associated with respiratory disease, elevated inflammatory markers, but not Burkholderia infection.