Related Experiment Video
Updated: May 26, 2026
A Novel Microdissection Approach to Recovering Mycobacterium tuberculosis Specific Transcripts from Formalin Fixed Paraffin Embedded Lung Granulomas
Published on: June 5, 2014
Chronic granulomatous disease: Clinical, microbial, and genetic findings in 39 Colombian patients
Julian Rojas1,2,3, Carlos A Arango-Franco1,2, Marcela Moncada-Velez1,4
1Inborn Errors of Immunity Group, Department of Microbiology and Parasitology, School of Medicine, University of Antioquia, Medellín, Colombia.
Insights
Chronic granulomatous disease (CGD) is an inherited immune deficiency affecting phagocyte NADPH oxidase function. This study details the clinical, microbiological, and genetic profiles of 39 Colombian CGD patients, expanding the known variant spectrum.
Area of Science:
- Immunology
- Genetics
- Infectious Diseases
Background:
- Chronic granulomatous disease (CGD) is a primary immunodeficiency characterized by defective phagocyte NADPH oxidase function.
- This defect impairs the production of reactive oxygen species (ROS), leading to recurrent infections and inflammation.
Purpose of the Study:
- To characterize the clinical, microbiological, and genetic features of Colombian patients with CGD.
- To expand the understanding of the genetic variant spectrum of CGD in Latin America.
Main Methods:
- Multicenter evaluation of 39 Colombian patients from 32 kindreds.
- Clinical and microbiological data collection.
- Genetic analysis of NADPH oxidase complex genes (CYBB, CYBA, NCF1, NCF2, NCF4) in 31 patients.
Main Results:
- Genetic variants identified in CYBB (n=22), CYBA (n=3), NCF1 (n=1), NCF2 (n=1), and NCF4 (n=4).
- Clinical manifestations included BCG complications (n=8), pulmonary tuberculosis (n=4), and Salmonella bacteremia (n=12/17).
- Colombian CGD patients exhibit profiles similar to other Latin American populations, with novel genetic findings.
Conclusions:
- The genetic landscape of CGD in Colombia is diverse, contributing to the regional variant spectrum.
- Earlier diagnosis and improved access to specialized testing are crucial for managing CGD patients.
Abstract:
Chronic granulomatous disease (CGD) is an inborn error of immunity of caused by pathogenic variants of genes encoding components of the phagocyte NADPH oxidase complex, resulting in defective reactive oxygen species production and impaired microbial killing. We conducted a multicenter evaluation of 39 Colombian patients with CGD from 32 unrelated kindreds, describing their clinical, microbiological, and genetic characteristics. Genetic analyses were performed for 31/39 patients and identified variants of the following genes: CYBB (n = 22), CYBA (n = 3), NCF1 (n = 1), NCF2 (n = 1), and NCF4 (n = 4). All but three of the patients had symptoms, the exceptions being individuals with p40 phox deficiency. BCG-related complications occurred in eight patients, pulmonary tuberculosis in four, and Salmonella spp. bacteremia in 12 of 17 patients with Salmonella infections. Colombian patients with CGD had clinical and microbiological profiles similar to those reported across Latin America. The genetic findings broaden the regional variant spectrum and emphasize the need for earlier diagnosis and better access to specialist testing.
Related Concept Videos
01:20COPD: Pathogenesis and Clinical Features
The primary cause for the onset of COPD is cigarette smoking and exposure to air pollution. These hazardous factors initiate a chain reaction within the lungs, resulting in chronic inflammation, damage to the airways, and a...
01:25Inflammatory Bowel Disease III: Crohn's Disease
01:24Chronic Obstructive Pulmonary Disease III: Chronic Bronchitis Features
01:28Pulmonary Tuberculosis II
Here is a detailed explanation of its pathophysiology:
Transmission: The process begins when a person inhales droplet nuclei containing M. tuberculosis. These are typically released into the air when an individual with pulmonary or...