Gastrointestinal Complications in Chronic Granulomatous Disease

Methods Mol Biol. 2019:1982:573-586. doi: 10.1007/978-1-4939-9424-3_34.

Abstract

Almost half of patients with chronic granulomatous disease (CGD) suffer from gastrointestinal (GI) inflammation, the pathogenesis of which is complex and multifactorial. As a result, the management of CGD-associated GI inflammation remains challenging due to its chronicity and difficulty in managing the simultaneous need for immunomodulation with increased susceptibility to infection. In order to contextualize prospective treatment interventions for CGD-associated GI inflammation, we have reviewed the clinical presentation, pathogenesis and current management of this disease. Increased understanding of the role of nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex 2 (NOX2)-derived reactive oxygen species (ROS) in inflammatory bowel disease (IBD) will likely reveal novel targets for therapeutic intervention.

Keywords: Chronic granulomatous disease; Inflammatory bowel disease; Microbiome; NADPH oxidase; NOX2; Reactive oxygen species.

Publication types

  • Review

MeSH terms

  • Animals
  • Biomarkers
  • Clinical Studies as Topic
  • Combined Modality Therapy
  • Disease Management
  • Disease Models, Animal
  • Disease Susceptibility
  • Gastrointestinal Diseases / diagnosis*
  • Gastrointestinal Diseases / etiology*
  • Gastrointestinal Diseases / therapy
  • Gastrointestinal Microbiome
  • Granulomatous Disease, Chronic / complications*
  • Granulomatous Disease, Chronic / genetics
  • Granulomatous Disease, Chronic / metabolism*
  • Humans
  • NADPH Oxidases / genetics
  • NADPH Oxidases / metabolism
  • Phenotype
  • Reactive Oxygen Species / metabolism
  • Symptom Assessment
  • Treatment Outcome

Substances

  • Biomarkers
  • Reactive Oxygen Species
  • NADPH Oxidases