Aspergillus-induced pneumonia in adult without obvious immunodeficiency: test the burst!

Chronic granulomatous disease (CGD) is a rare primary immunodeficiency caused by a germline defect in one of the genes (CYBB, NCF1, CYBA, NCF2) encoding the NADPH oxidase 2 (NOX2) components responsible for the phagocyte oxidative burst and the production of reactive oxygen species (ROS). An early diagnosis and a prompt treatment are crucial for improving outcomes in affected patients. CGD is usually diagnosed in early childhood, and more than 95% of cases are diagnosed by the age of 5 years [1, 2]. However, CGD can be diagnosed late in adulthood [1–3]. Aside from residual NOX2 activity, factors underlying late diagnosis of CGD remain poorly investigated. Here, we report a case of Aspergillus-induced pneumonia rapidly extending to fatal acute respiratory distress syndrome (ARDS) revealing a late diagnosis of CGD, which was associated with a residual mitochondria-driven neutrophil extracellular trap release (NETosis) counterbalancing the lack of functional NOX2. Written informed consent was obtained from the deceased patient's next-of-kin for publication of this case report and accompanying images.

Source: European Respiratory Journal - April 26, 2018 Category: Respiratory Medicine Authors: Flament, H., Granger, V., Vezinet, C., Marzaioli, V., Kannengiesser, C., de Chaisemartin, L., Hurtado-Nedelec, M., Litvinova, E., Messika, J., Adam, N., Gougerot-Pocidalo, M.-A., Dang, P. M.-C., Monteiro, R., el Benna, J., Langeron, O., Chollet-Martin, S. Tags: Original Articles: Research letters Source Type: research