Overview

Chronic granulomatous disease (CGD) is an inherited (genetic) immune system disorder that occurs when a type of white blood cell (phagocyte) that usually helps your body fight infections doesn't work properly. As a result, the phagocytes can't protect your body from bacterial and fungal infections.

People with chronic granulomatous disease often may develop pneumonia, lung infections, skin infections, lymph node infections, liver infections, gastrointestinal inflammation or other infections. They may develop clusters of white blood cells (masses) in infected areas (granulomas). Most people are diagnosed with CGD during childhood, but some people may not be diagnosed until adulthood.

Diagnosis

To diagnose chronic granulomatous disease (CGD), your doctor will review your family and medical history and conduct a physical examination. Your doctor may order several tests to diagnose CGD, including:

• Neutrophil function tests. Your doctor may conduct a dihydrorhodamine 123 (DHR) test or other tests to see how well a type of white blood cell (neutrophil) in your blood is functioning. Doctors usually use this test to diagnose CGD.
• Genetic testing. Your doctor may request a genetic test to confirm the presence of a specific genetic mutation that results in chronic granulomatous disease.
• Prenatal testing. Doctors may conduct prenatal testing to diagnose CGD if one of your children already has been diagnosed with CGD.

Source: http://www.mayoclinic.com