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Definition  

Chronic granulomatous disease occurs 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 can not fight some types of bacteria. It also makes infections likely to return.

CGD is a rare condition.

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Causes  

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

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Risk Factors  

The following factors increase your chance of developing CGD:

  • Parents who have the recessive trait
  • Sex: male
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Bacterial Skin Infection  
Impetigo

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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
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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:

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Treatment  

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

Medications  

You doctor may prescribe antibiotics to prevent and treat infections.

Bone Marrow Transplantation  

Bone marrow transplantation may be an option. A suitable donor will need to be found. It is a definitive cure.

Surgery  

Surgery may involve the removal of abscesses.

Vaccines  

Some live viral vaccines should be avoided. You should talk to your doctor before receiving one.

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Prevention  

CGD is an inherited disease. There are no preventive steps