Chronic granulomatous disease (CGD) is an inborn error of immunity caused by a defect in one of the components of the
NADPH oxidase complex, which is responsible for generating
reactive oxygen species (ROS) during the respiratory burst in phagocytes. The absence of ROS produced by
NADPH oxidase in neutrophils and in macrophages leads to greater susceptibility to certain bacterial and
fungal infections, and also to inflammatory manifestations due to a deregulated inflammatory response, which suggests that the ability to adequately regulate inflammatory signaling depends on ROS produced by
NADPH oxidase. The disease course in patients with X-linked CGD is more severe, with recurrent invasive
infections; in contrast, patients with non-classic CGD do not present invasive bacterial or
fungal infections, but have more prominent inflammatory manifestations. The most frequent gastrointestinal manifestations are
stomatitis,
gingivitis, chronic
diarrhea,
liver abscesses that are similar to
inflammatory bowel disease (IBD), and
granulomas that can cause obstruction or
stenosis in the esophagus, stomach or intestine. It has been observed that the deficiency of
p40phox and ROS (non-classic CGD) are associated with greater susceptibility to
colitis and the development of severe
inflammation; therefore, it is presented that these
proteins participate in the resolution of
inflammation. In general, the inflammatory findings in CGD, including gastrointestinal manifestations, are seldom described. In international cohorts, manifestations that are similar to IBD are reported in up to 58% of patients with CGD; however, in the only Mexican cohort, its finding is described in only 4 out of 93 patients (4.3%). In this review, we summarize the gastrointestinal clinical findings of CGD, including infectious and inflammatory manifestations, emphasizing on the latter.