Chronic Granulomatous Disease

(CGD; Fatal Granulomatosis of Childhood; Chronic Granulomatous Disease of Childhood; Progressive Septic Granulomatosis)

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
Bacterial Skin Infection
Impetigo
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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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