Chronic granulomatous disease (CGD) is when a specific gene from both parents passes to the child. This gene causes phagocytic
cells to develop
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.
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.
CGD is more common in men.
Having parents who have the recessive trait increases a child's risk of CGD.
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:
diarrheaBone painJoint pain
Bacterial Skin Infection
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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 testsBiopsy
Images may be taken of your bodily structures. This can be done with: Chest x-rayBone scanLiver scan
Talk with your doctor about the best plan for you. Treatment options include:
You doctor may prescribe antibiotics to prevent and treat infections.
Bone marrow transplantation may be an option. A suitable donor will need to be found. It is a definitive cure.
Surgery may involve the removal of abscesses.
Some live viral vaccines should be avoided. You should talk to your doctor before receiving one.
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.
Bernhisel-Broadbent J, Camargo EE, et al. Recombinant human interferon-gamma as adjunct therapy for
infection in a patient with chronic granulomatous disease.
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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, et al. Inherited Neutrophil Disorders: Molecular Basis and New Therapies.
Lekstrom-Himes JA, Gallin JI. Immunodeficiency diseases caused by defects in phagocytes.
N Engl J Med. 2000; 343:1703.
Pogrebniak HW, Gallin JI, et al. Surgical management of pulmonary infections in chronic granulomatous disease of childhood.
Ann Thorac Surg. 1993;55(4):844-849.
Last reviewed December 2015 by Kari Kassir, MD
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.
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