Chronic Granulomatous Disease Mimicking CrohnʼS Disease

Colitis in chronic granulomatous disease

“…Therefore, most patients have received an empirical course of antibiotics, perhaps combined with other treatments, which has produced a very variable response 24 When intestinal contents have been cultured they have usually been negative for bacterial growth or inconclusive,2 5 8 22 thus making infections an unlikely cause of the inflammatory process. However, we cannot exclude a triggering role for the normal flora nor for organisms not killed by CGD phagocytes.…”

Is Crohn's disease due to defective immunity?

“…The support for an innate immune insufficiency culminating in a Crohn's disease-like phenotype has been proposed on the basis of observations of the association of Crohn's disease or Crohn's disease-like intestinal manifestations with well-described genetic syndromes involving defects of innate immunity. [20][21][22] Before the identification of the NOD2/CARD15 gene, Crohn's disease was proposed to result from genetic and environmental insults to the innate immune system, partly on the basis of examples from numerous diseases, such as chronic granulomatous disease, glycogen storage disease Ib and cyclic neutropenia. [20][21][22] Although most of these associations were case reports or series, a more systematic study found that 10 of 35 patients with glycogen storage disease Ib had radiological, endoscopic and histological features consistent with a Crohn's disease-like disease, including ileitis or colitis with skip lesions, stricturing disease, rectal sparing and perianal disease.…”

“…[20][21][22] Before the identification of the NOD2/CARD15 gene, Crohn's disease was proposed to result from genetic and environmental insults to the innate immune system, partly on the basis of examples from numerous diseases, such as chronic granulomatous disease, glycogen storage disease Ib and cyclic neutropenia. [20][21][22] Although most of these associations were case reports or series, a more systematic study found that 10 of 35 patients with glycogen storage disease Ib had radiological, endoscopic and histological features consistent with a Crohn's disease-like disease, including ileitis or colitis with skip lesions, stricturing disease, rectal sparing and perianal disease. 23 These reports support the idea that a variety of genetic defects in the innate immune system can result in a common Crohn's disease phenotype.…”

Abnormal technetium labelled white cell scan in the colitis of chronic granulomatous disease

“…Histologically Crohn’s disease is characterised by transmural inflammation with the formation of small non-caseating granulomas, but again there are no distinguishing microscopic features between Crohn’s disease and CGD 3. Retrospectively, many of the granuloma were found adjacent to or within lymphoid follicles, as noted previously by Ament and Ochs 2…”