Chronic granulomatous disease (CGD) is a rare inherited primary immunodeficiency disorder that impairs the body’s ability to kill certain bacteria and fungi.

As a result, people with CGD are at a higher risk for getting severe, unusual, and repeat infections. Approximately 20 children are born with CGD in the United States every year, 85% of whom are boys. CGD may become apparent at any time from infancy to late adulthood; however, most affected individuals are diagnosed before age 5 years.

Here are some of the signs and symptoms that may indicate it’s appropriate to test for CGD:

1. Serious, unusual, and repeat infections in many areas of the body, including the lungs, liver, and bones
2. Skin and soft tissue abscesses that don’t go away
3. Diarrhea or abdominal pain
4. Pain or difficulty eating or going to the bathroom
5. Vomiting after meals
6. Swollen lymph nodes
7. Fever, cough, fatigue, or bone/joint pain
8. Failure to thrive
9. Granulomas, which usually appear in the bladder and intestines
10. Family members or relatives who have had unusual or serious infections that have resulted in hospitalizations or even death

Patients looking for more information about CGD can visit CGD Connections, a multi-faceted online platform and Facebook page that was created as a resource for the community in partnership with people living with CGD and their communities.

More information is also in a document about Understanding the roots of CGD, here.

With thanks to the Jeffrey Modell Foundation.

Do you have a rare disease? Share your stories with the Patient Worthy community!