Chronic granulomatous disease (CGD) is a rare genetic problem. White blood cells called phagocytes are not able to kill some types of bacteria and fungi. This can lead to frequent and deadly infections.

Causes

CGD is caused by one of five faulty genes. One type of CGD is x-linked, meaning the faulty gene is passed from mother to son. The other four types are recessive. This means one of the faulty genes is passed from each parent to their child.

Risk Factors

The x-linked form of CGD is more common in males.

Symptoms

Symptoms usually start in early childhood. Often, a baby will have a history of frequent infections that do not respond to treatment.

Problems may be:

Swollen glands in the neck
Belly pain
Lasting diarrhea
Nausea and vomiting
Areas of skin that are swollen, red, warm, and tender
Bone pain
Joint pain

Bacterial Skin Infection

Diagnosis

The doctor will ask about your symptoms and health history. A physical exam will be done.

A blood test or tissue biopsy will be done to look for signs of CGD or the faulty gene.

Treatment

The goal of treatment is to manage symptoms. Choices are:

Medicines, such as:
- Antibiotics or antifungals to treat infections
- Steroids or nonsteroidal anti-inflammatory drugs to treat inflammation
- Antimicrobial medicine and interferon-gamma to prevent future infections
Surgery to treat complications, such as abscesses

A stem cell transplant may be done. It may cure the disease in some people. It is not right for everyone.

Prevention

There are no known ways to prevent this health problem.

RESOURCES:

Genetics Home Reference
http://ghr.nlm.nih.gov

National Organization for Rare Disorders
http://www.rarediseases.org

CANADIAN RESOURCES:

Health Canada
https://www.canada.ca

Sick Kids—The Hospital for Sick Children
http://www.sickkids.ca

References:

Chronic granulomatous disease. EBSCO DynaMed website. Available at: https://www.dynamed.com/condition/chronic-granulomatous-disease. Accessed March 8, 2021.

Chronic granulomatous disease and other phagocytic cell disorders. Immune Deficiency Foundation website. Available at:
...(Click grey area to select URL)
Accessed March 9, 2021.

Thomsen IP, Smith MA, et al. A Comprehensive Approach to the Management of Children and Adults with Chronic Granulomatous Disease. J Allergy Clin Immunol Pract. 2016 Nov - Dec;4(6):1082-1088.

Last reviewed December 2020 by EBSCO Medical Review Board Kari Kassir, MD
Last Updated: 3/9/2021

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