Definition

Chronic granulomatous disease is when a specific gene from both parents passes to the child. This gene causes phagocytic cells to develop abnormally

in the immune system. Phagocytic cells normally kill bacteria. With this disease, these cells cannot work properly. As a result, the body cannot fight some types of bacteria. It also makes infections likely to return.

CGD is a rare condition.

Causes

The disease is caused by one of 4 genes. Three of the genetic defects are recessive. This means 2 of these defective genes have to be present for the disease to develop—1 from each parent. The other gene is located on the X chromosome. It is transmitted from mother to son.

Risk Factors

CGD is more common in men.

Having parents who have the recessive trait increases a child’s risk of CGD.

Symptoms

Typically, symptoms begin to appear in childhood. In some, they may not appear until the teen years.

Symptoms include:

• Swollen lymph nodes in the neck
• Frequent skin infections that are resistant to treatment, such as:
  • Abscesses
  • Boils
• Persistent diarrhea
• Bone pain
• Joint pain

Diagnosis

You will be asked about your symptoms and medical history. A physical exam will be done.

You may have your bodily fluids and tissues tested. This can be done with:

• Blood tests
• Biopsy and cultures

Images may be taken of your bodily structures. This can be done with:

• Chest x-ray
• Bone scan
• Liver scan

Treatment

Talk with your doctor about the best plan for you. Treatment options include:

Prevention

CGD is an inherited disease. There are no preventive steps to reduce the risk of being born with the disease. Genetic counseling may be helpful. It can be used to detect carrier status in woman. Early diagnosis is vital. It will allow for early treatment. The bone marrow transplant donor search can also be started.

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

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

Chronic granulomatous disease. EBSCO DynaMed website. Available at:
http://www.ebscohost.com/dynamed
Updated May 2, 2014. Accessed December 16, 2014.

Chronic granulomatous disease. Genetics Home Reference website. Available at:
http://ghr.nlm.nih.gov/condition/chronic-granulomatous-disease
Updated August 2012. Accessed December 16, 2014.

Chronic granulomatous disease and other phagocytic cell disorders. Immune Deficiency Foundation website. Available at:
http://primaryimmune.org/about-primary-immunodeficiencies/specific-disease-types/chronic-granulomatous-disease-and-other-phagocytic-cell-disorders/
Accessed December 16, 2014.

Dinauer MC, Lekstrom-Himes JA, Dale DC. Inherited Neutrophil Disorders: Molecular Basis and New Therapies. Hematology. 2000;303.

Lekstrom-Himes JA, Gallin JI. Immunodeficiency diseases caused by defects in phagocytes. N Engl J Med. 2000; 343:1703.

Pogrebniak HW, Gallin JI, Malech HL. Surgical management of pulmonary infections in chronic granulomatous disease of childhood. Ann Thorac Surg. 1993;55(4):844-849.