Pronounced: Kron-ik gran-u-lo-ma-tus disease
Chronic granulomatous disease develops when a specific gene from both parents passes to the child. This gene causes abnormal cells to develop in the immune system. The abnormal cells are called phagocytic cells. They normally kill bacteria. With this disease, these cells cannot work properly. As a result, the body can not fight some types of bacteria. It also makes infections likely to return.
The increased risk of infections can lead to premature death. Repeated lung infections are often the cause of death with this disease. Preventative care and treatment can help to reduce and temporarily control infections.
CGD is a rare condition.
The disease is usually caused by a recessive gene. This means two of these defective genes have to be present for the disease to develop. This gene is carried on the X chromosome. Both parents must have the gene.
The following factors increase your chance of developing CGD:
Bacterial Skin Infection
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Your doctor will ask about your symptoms and medical history. A physical exam will be done.
Tests may include the following:
Talk with your doctor about the best plan for you. Treatment options include:
You may be given medications to treat this condition.
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.
Genetics Home Reference
National Organization of Rare Disorders
Bernhisel-Broadbent J, Camargo EE, Jaffe HS, et al. Recombinant human interferon-gamma as adjunct therapy for Aspergillus infection in a patient with chronic granulomatous disease. J Infect Dis . 1991;163(4):908-911.
Chronic granulomatous disease. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed/what.php . Updated February 10, 2012. Accessed January 31, 2013.
Chronic granulomatous disease. Genetics Home Reference website. Available at: http://ghr.nlm.nih.gov/condition/chronic-granulomatous-disease . Updated August 2012. Accessed January 31, 2013.
Chronic granulomatous disease. Immune Deficiency Foundation website. Available at: http://primaryimmune.org/about-primary-immunodeficiency-diseases/types-of-pidd/chronic-granulomatous-disease . Accessed January 31, 2013.
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.
Last reviewed September 2012 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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