Chronic granulomatous disease as a risk factor for autoimmune disease

Abstract

Chronic granulomatous disease (CGD) is characterized by recurrent infections and granuloma formation. In addition, we have observed a number of diverse autoimmune conditions in our CGD population, suggesting that patients with CGD are at an elevated risk for development of autoimmune disorders. In this report, we describe antiphospholipid syndrome, recurrent pericardial effusion, juvenile idiopathic arthritis, IgA nephropathy, cutaneous lupus erythematosus, and autoimmune pulmonary disease in the setting of CGD. The presence and type of autoimmune disease have important treatment implications for patients with CGD.

Figure 1

A magnetic resonance angiogram of the brain revealing filling defects (white arrows) due to extensive intracerebral venous thrombosis.

Figure 2

An enlarged cardiac silhouette on chest X-ray due to massive pericardial effusion confirmed on chest CT.

Figure 3

Arcuate and annular plaques with central clearing on the chest of patient 5; malar erythema and focal plaque on the right cheek.

Figure 4

Chest CTs illustrating the fluctuating, circumscribed, rim-enhancing pulmonary infiltrates seen in Patient 6 and others.