Chronic granulomatous disease is an inherited abnormality of certain cells of the immune system, known as phagocytic cells. These cells normally kill bacteria. Chronic granulomatous disease causes repeated bacterial infections.

Chronic granulomatous disease (CGD) is transmitted in 50%-60% of the cases as a recessive sex-linked trait. This means that the condition is more likely to affect males than females, because the defective gene is carried on the X chromosome. Since females have two X chromosomes, if one X chromosome has the defective gene, the second X chromosome will have a working copy of the gene to make up for the first copy. If a female inherits the defective gene from both parents, she will also have the disease.

In this disease, the inability of phagocytic cells to kill certain bacteria and fungi leads to long term (chronic) and repeated (recurrent) infections. The condition is often discovered in the first years of life. Milder forms may appear during the teen years or even adulthood.

Impetigo, skin abscesses and furuncles, and perianal and rectal abscesses are common. Recurrent pneumonia is a significant problem and may be caused by bacteria not typically found in most pneumonias. Chronic swelling of the lymph nodes in the neck with abscess formation is common.

Risk factors include a family history of recurrent or chronic infections.

The incidence of chronic granulomatous disease is about 1 in a million.

• Swollen lymph nodes in the neck; those develop early in life, and stay swollen or occur frequently
• Abscess formation in the lymph nodes of the neck -- requires surgical drainage
• Frequent and difficult-to-clear skin infections
  • Chronic infection inside the nose
  • Impetigo
  • Abscesses
  • Furuncles
  • Impetiginized eczema (eczema complicated by an infection)
  • Perianal abscesses (abscesses around the anus)
• Pneumonia
  • Occurs frequently
  • Difficult to clear
• Persistent diarrhea
• Bone infections
• Joint infections

Physical examination may show an enlarged liver (hepatomegaly), enlarged spleen (splenomegaly), and swelling of multiple lymph nodes all over the body (generalized adenopathy). Signs of osteomyelitis may appear, sometimes affecting multiple bones.

A tissue biopsy may show granulomas (groups of abnormal phagocytes).

Other tests may include:

• Nitroblue tetrazolium test (NBT) to confirm the disease and detect carrier state in the mother
• Chemiluminescence assay to confirm the disease
• CBC
• ESR
• Chest X-ray
• Bone scan
• Liver scan