Chronic granulomatous disease

Alternative names

Chronic granulomatous disease is an inherited abnormality of certain cells of the immune system that normally kill bacteria (phagocytic cells). It causes recurrent infection by certain types of bacteria.

Causes, incidence, and risk factors

Chronic granulomatous disease (CGD) is transmitted 50-60% of the time 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 compensate. If a female inherits the defective gene from both parents, she can also be affected.

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 in adolescence 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 that develop early in life and that persist or occur frequently  
  • abscess formation in the lymph nodes of the neck that requires surgical drainage  
  • frequent and difficult-to-clear skin infections       o chronic infection inside the nose       o impetigo       o abscesses       o furuncles       o impetiginized eczema (eczema complicated with an infection)       o perianal abscess  
  • pneumonia       o occurs frequently       o is difficult to clear  
  • persistent diarrhea  
  • bone infections  
  • joint infections

Signs and tests

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.

Tissue samples may be obtained for biopsy, which may show granulomas.

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

Acute infections should be treated vigorously with appropriate antibiotics. Preventive (prophylactic) antibiotics may be prescribed, to be taken on a daily basis to try to decrease the frequency of infection. When abscesses form, if possible they should be aggressively treated by a surgeon. Interferon-gamma may also be helpful in reducing the number of severe infections.

Expectations (prognosis)
Prolonged antibiotic therapy may help to reduce infections, but premature death is typically a result of repeated pulmonary infections.


  • chronic pneumonia  
  • lung tissue damage  
  • bone damage  
  • skin damage

Calling your health care provider

Call your health care provider if you have chronic granulomatous disease and you suspect that you have pneumonia or infection in another part of the body.

Notify your health care provider if recurrent pneumonia or recalcitrant skin infections are a problem.

Genetic counseling is recommended for prospective parents with a family history of chronic granulomatous disease. Advances in genetic screening and increasing use of chorionic villus sampling have made early recognition of chronic granulomatous disease feasible, although the practice is not yet widespread or fully accepted. Carrier status in the female can be identified by testing.

Johns Hopkins patient information

Last revised: December 4, 2012
by Janet G. Derge, M.D.

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