Chronic Granulomatous Disease (CGD) is a type of primary immunodeficiency disease (PI) in which one group of the body’s white blood cells, called neutrophils, fail to make the hydrogen peroxide, bleach and other chemicals needed to fight bacterial and fungal infections. CGD is not contagious—it is caused by hereditary or genetic defects.
Neutrophils are white blood cells that surround and ingest microorganisms into tiny compartments inside the cell where the microorganisms are killed and digested.
When the immune system is under attack, CGD neutrophils exit the blood into the tissues, going to the sites of infection as they normally would; however, these cells are missing key proteins that help generate the hydrogen peroxide and bleach. As a result, patients with CGD have trouble preventing the start of infection; in an attempt to control infection masses of neutrophils and other immune cells continue to gather at the site of infection forming large groups of these cells called granulomas, hence the name of the disease. While small granulomas are microscopic in size, sometimes the granulomas get so large that they form “knots” of sufficient size to be felt and seen, and can obstruct the bowel or the emptying system of the urinary tract.
The good news is that patients with CGD can defend against most infections.
Patients with CGD have normal immunity to most viruses and partial to full immunity to many types of bacteria and fungi naturally found on their skin, in their bowel or in the environment, which is why they are not infected all the time. They may go months to years without infections and then have a severe one. Patients with CGD make normal antibodies, so unlike patients with lymphocyte problems, patients with CGD are not particularly susceptible to viruses and generally do not need antibody replacement treatments.
In summary, CGD neutrophils, a type of white blood cell, fail to make hydrogen peroxide and bleach, leading to infections that are caused by a few bacteria and fungi, particularly those found in decaying organic materials such as mulch, manure, or in the soil. These include:
- Staphylococcus aureus
- Burkholderia cepacia complex
- Serratia marcescens
Much of the rest of their immune system is normal, and with daily prophylaxis (preventive medicine), many patients with CGD are leading normal, healthy, and productive lives.
Source: Immune Deficiency Foundation Patient & Family Handbook for Primary Immunodeficiency Diseases FIFTH EDITION Copyright 2013 by Immune Deficiency Foundation, USA. This page contains general medical information, which cannot be applied safely to any individual case. Medical knowledge and practice can change rapidly. Therefore, this page should not be used as a substitute for professional medical advice.