Chronic granulomatous disease

Definition

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.

Alternative Names

Causes

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.