Chronic granulomatous disease develops when a specific gene from both parent 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 are impaired. As a result, the body can not fight some types of bacteria. It also makes infections likely to recur.
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, occurring in about one in 200,000 births in the US.
The disease is usually caused by a recessive gene. This means two of this defective gene have to be present for the disease to develop. This gene is carried on the X chromosome. Some individuals inherit the disease in an autosomal recessive pattern. In other words, both parents must have the gene.
The following factors increase your chance of developing CGD:
- Parents who have the recessive trait
- Being female
Symptoms typically begin to appear in childhood. In some, they may not appear until the teen years.
- Swollen lymph nodes in the neck
- Abscesses in the neck's lymph nodes or liver
Frequent skin infections that are resistant to treatment:
- Chronic infections inside the nose
(a bacterial skin infection)
worsened by an infection
- Abscesses near the anus
that is resistant to treatment
- Infections of the bones
- Infections of the joints
- Fungal infections
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:
—removal of a sample of tissue to test for the condition
- Dihydrorhodamine reduction (DHR) flow cytometry test—a blood test that looks at the ability of phagocytes to make chemicals that can destroy bacteria
- Erythrocyte sedimentation rate (ESR)—to test for inflammation
- Chest x-ray
—a test that uses radiation to take pictures of structures inside the chest cavity
- Bone scan
- Liver scan
- Complete blood count (CBC)
Talk with your doctor about the best plan for you. Treatment options include:
- Antibiotics—used for preventative and fungal treatments, and new infections
- Interferon gamma
—reduces the number of infections in patients; not useful in acute (newly active) 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 debridement or removal of abscesses.
Some live viral vaccines should be avoided. You should consult with an immunologist 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 essential. It will allow for early treatment. The bone marrow transplant donor search can also be started.
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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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