Related Experiment Video
Updated: May 27, 2026
Induction of Intestinal Graft-versus-host Disease and Its Mini-endoscopic Assessment in Live Mice
Published on: February 11, 2019
Utility of screening for chronic granulomatous disease in patients with inflammatory bowel disease
Preeti Jaggi1, Rebecca Scherzer, Rose Knieper
1Section of Infectious Diseases and Immunology, Nationwide Children's Hospital, Columbus, OH, USA. preeti.jaggi@nationwidechildrens.org
Insights
Screening for Chronic Granulomatous Disease (CGD) in patients with chronic colitis or inflammatory bowel disease (IBD) did not identify any carriers or patients. This pilot study suggests routine CGD screening is not beneficial for this patient group.
Area of Science:
- Immunology
- Gastroenterology
- Genetics
Background:
- Chronic Granulomatous Disease (CGD) is a primary immunodeficiency with genetic heterogeneity.
- CGD can present with gastrointestinal issues like colitis or Crohn's disease.
- The prevalence of CGD carriers in patients with chronic colitis/IBD is not well-established.
Purpose of the Study:
- To assess the utility of screening chronic colitis/IBD patients for CGD or its carrier state.
- To determine if CGD is a significant underlying factor in this patient population.
Main Methods:
- A pilot study prospectively screened 120 patients with chronic colitis/IBD.
- Screening aimed to detect CGD or CGD carrier status.
Main Results:
- No CGD carriers or patients were identified among the 120 participants.
- Three patients had initially inconclusive test results, which normalized upon repeat testing.
Conclusions:
- Routine screening for CGD is not indicated or instructive in patients presenting with chronic colitis or IBD.
- The study did not find evidence supporting CGD as a common underlying cause for these conditions in the tested cohort.
Abstract:
Chronic granulomatous disease (CGD), a genetically heterogeneous primary X-linked or autosomal recessive immunodeficiency, can manifest with gastrointestinal symptoms, including colitis or Crohn's disease. The frequency of CGD carriers among those with chronic colitis/inflammatory bowel disease is unknown. We underwent a pilot study examining the value of prospectively screening patients with chronic colitis/inflammatory bowel disease (IBD) for either CGD or the carrier state of CGD. No carriers of CGD or patients with CGD were detected among 120 patients. Three patients had inconclusive results and the assay was normal on repeat testing. We conclude that routine screening for CGD was not instructive in this cohort of chronic colitis or IBD patients.
Related Concept Videos
01:30Inflammatory Bowel Disease III: Diagnostic Studies and Management I-Nutritional Therapy
Diagnostic studies
A colonoscopy is the definitive screening test, distinguishing ulcerative colitis from other colon diseases with similar symptoms. During a colonoscopy test, inflamed mucosa with exudate ulcerations can be observed, and biopsies are taken to determine the histologic characteristics of the colonic...
01:25Inflammatory Bowel Disease III: Crohn's Disease
01:30Inflammatory Bowel Disease II: Crohn's Disease
Inflammatory bowel disease, commonly known as IBD, refers to a collection of disorders that lead to persistent inflammation of the gastrointestinal tract. The two types of IBD are ulcerative colitis, which impacts the colon, and Crohn's disease, which can involve any part of the gastrointestinal segment.
Crohn's disease
Crohn's disease is a chronic, systemic inflammatory bowel disease (IBD) that predominantly affects the gastrointestinal tract. It is marked by transmural...
01:29Drugs for Treatment of Crohn's Disease in IBD Using Immunomodulatory Agents
01:17Chronic Bowel Disorders: Introduction
Irritable Bowel Syndrome (IBS) is a common disorder affecting the gastrointestinal tract. The distinctive feature is recurrent abdominal pain associated with altered bowel movements, manifesting as constipation, diarrhea, or fluctuating between both. The...
01:27Inflammatory Bowel Disease I: Ulcerative Colitis
Inflammatory bowel disease, or IBD, encompasses a group of disorders characterized by chronic inflammation or ulceration of the gastrointestinal tract.
Risk Factors
The exact cause of IBD remains unclear, although it is believed to be due to a mix of genetic, environmental, microbial, and immune factors. Genetic factors are significant in determining susceptibility to IBD, with family history being a critical risk factor. Individuals with a first-degree relative who has IBD are at...