Gastrointestinal and Hepatic Manifestations of Chronic Granulomatous Disease

J Allergy Clin Immunol Pract. 2023 May;11(5):1401-1416. doi: 10.1016/j.jaip.2022.12.039. Epub 2023 Jan 13.


Chronic granulomatous disease (CGD) is a rare inborn error of immunity, resulting from a defect in nicotinamide adenine dinucleotide phosphate oxidation and decreased production of phagocyte reactive oxygen species. The main clinical manifestations are recurrent infections and chronic inflammatory disorders. Current approaches to management include antimicrobial prophylaxis and control of inflammatory complications. Hematopoietic stem cell transplantation or gene therapy can provide definitive treatment. Gastrointestinal and hepatic manifestations are common in CGD and include structural changes, dysmotility, CGD-associated inflammatory bowel disease, liver abscesses, and noncirrhotic portal hypertension. The findings can be heterogeneous, and the management is complex in light of the underlying immune dysfunction. This review describes the various clinical findings and the latest studies in management of gastrointestinal and hepatic manifestations in CGD, as well as the management experience at the National Institutes of Health.

Keywords: Abscess; CGD; IBD; Motility; Portal hypertension.

Publication types

  • Review
  • Research Support, N.I.H., Intramural

MeSH terms

  • Gastrointestinal Tract
  • Granulomatous Disease, Chronic* / complications
  • Granulomatous Disease, Chronic* / genetics
  • Granulomatous Disease, Chronic* / therapy
  • Hematopoietic Stem Cell Transplantation* / adverse effects
  • Humans
  • Hypertension, Portal*
  • NADPH Oxidases / genetics


  • NADPH Oxidases