Delayed Severe Presentation of Chronic Granulomatous Disorder in Adulthood: A Case Report

Abstract

Chronic granulomatous disease (CGD) is the most common inherited phagocytic disorder with an increased susceptibility to recurrent infections and inflammatory manifestations due to a defect in any of the 5 NADPH oxidase subunits. Although CGD may manifest at different ages based on the defects of NADPH oxidase proteins, it is usually diagnosed in childhood with an overall median age of 2.7 to 3 years at the onset.

Infections and inflammatory manifestations are known to be two major clinical presentations of CGD, with the infections occurring much earlier in life than the inflammatory manifestations. Despite the patients’ clinical history and their noticeable manifestations, sometimes the diagnosis is delayed until adulthood, which could be attributed to physicians’ low awareness of the disease. Another reason for such delayed diagnosis could be the fact that some CGD mutations may remain asymptomatic up to a certain age.

The current study is a report of a healthy woman without any history of recurrent infections or inflammation until she was forty. In her early forties, she contracted a mycobacterial infection that was unresponsive to treatment, and was then diagnosed with abnormal reactive oxygen species released by neutrophils, suggesting a case of CGD.

This suggests that primary immunodeficiencies are not solely childhood disorders and should be considered in all refractory or therapy resistant conditions, even in adults.