Chronic Granulomatous Disease (CGD) is a primary immunodeficiency which may present with infection or inflammation. The genetic defects associated with CGD cause aberrant or absent enzyme function, which results in a pronounced inflammatory response, and increased susceptibility to bacteria and fungi that are rarely pathogenic in immunocompetent hosts. While many affected patients manifest symptoms early in life, those with milder defects may not develop problems until they are adults. The rarity of this condition, coincident with the variety of clinical presentations, often delays establishing the correct diagnosis, resulting in poorer outcomes of those affected.
This video is directed towards primary care providers and specialists who may encounter in their practice a patient with CGD, and may need to consider this diagnosis, and manage confirmed cases. It aims to increase awareness by providing a brief overview of the condition, discussing the phenotypic spectrum, reviewing medical management and hematopoietic cell transplantation. Also included is information regarding the role and availability of gene therapy.
We thank the many contributors who made this video possible, including the managing physicians who shared their expertise. We also are very grateful to Horizon, whose generous funding and logistical support made production of this video possible.