What is Chronic Granulomatous Disease (CGD)?

The immune system of a patient with CGD does not work properly, leaving the body prone to bacterial and fungal infections, such as staphylococcus aureus, serratia marcescens, burkholderia cepacia, nocardia species, and organisms from the aspergillus species. 

Patients with CGD are highly prone to life-threatening infections from these organisms in the lungs (pneumonias), lymph nodes, liver or bones. CGD can also cause excessive inflammation and autoimmune problems, particularly inflammatory bowel disease (CGD colitis).

However, response to viral infections is normal in patients with CGD. Chronic Granulomatous Disease may involve any organ system or tissue of the body, but infections are usually found in the skin, lungs, liver, lymph nodes, gastrointestinal tract, bones, and occasionally the brain. Wounds may also have trouble healing and an inflammatory condition known as granuloma may develop. Pneumonia caused by a fungus such as aspergillus is a red flag for CGD. Infection by normally non-pathogenic bacteria is also a red flag for CGD. 

A person with CGD will often show signs of an immunodeficiency at a very young age. Symptoms include, but are not limited to:

• Granulomas (small areas of tissue inflammation), often located in the lung or gastrointestinal tract (which can cause chronic inflammatory bowel disease that closely resembles Crohn’s Disease or ulcerative colitis) 
• Abscesses (collections of pus) in the lungs, liver, spleen, bones, or skin
• Swollen lymph nodes or lymphadenitis
• Continuous diarrhea, bloody diarrhea, or abdominal pain 
• Prolonged or “yo-yo” fevers with no clear indication as to origin 
• Frequent respiratory and skin infections as well as severe acne

Gastrointestinal inflammation disease affects about 88% of CGD patients in some form or another while lung inflammation affects around 26% of patients.