Chronic granulomatous disease
Chronic granulomatous disease (CGD) is an inherited disorder in which certain immune system cells do not function properly. This leads to repeated and severe infections.
CGD; Fatal granulomatosis of childhood; Chronic granulomatous disease of childhood; Progressive septic granulomatosis; Phagocyte deficiency - chronic granulomatous disease
In CGD, immune system cells called phagocytes are unable to kill some types of bacteria and fungi. This disorder leads to long-term (chronic) and repeated (recurrent) infections. The condition is often discovered very early in childhood. Milder forms may be diagnosed during the teenage years, or even in adulthood.
Risk factors include a family history of recurrent or chronic infections.
About half of CGD cases are passed down through families as a sex-linked recessive trait. This means that boys are more likely to get the disorder than girls. The defective gene is carried on the X chromosome. Boys have 1 X chromosome and 1 Y chromosome. If a boy has an X chromosome with the defective gene, he may inherit this condition. Girls have 2 X chromosomes. If a girl has 1 X chromosome with the defective gene, the other X chromosome may have a working gene to make up for it. A girl has to inherit the defective X gene from each parent in order to have the disease.
CGD can cause many types of skin infections that are hard to treat, including:
- Blisters or sores on the face (impetigo)
- Growths filled with pus (abscesses)
- Pus-filled lumps in the skin (boils)
CGD can also cause:
- Persistent diarrhea
- Swollen lymph nodes in the neck
- Lung infections, such as pneumonia or lung abscess
Exams and Tests
The health care provider will do an examination and may find:
- Liver swelling
- Spleen swelling
- Swollen lymph nodes
There may be signs of a bone infection, which may affect many bones.
Tests that may be done include:
- Bone scan
- Chest x-ray
- Complete blood count (CBC)
- Flow cytometry tests to help confirm the disease
- Genetic testing to confirm the diagnosis
- Test of white blood cell function
- Tissue biopsy
Antibiotics are used to treat the disease, and may also be used to prevent infections. A medicine called interferon-gamma may also help reduce the number of severe infections. Surgery may be needed to treat some abscesses.
The only cure for CGD is a bone marrow or stem cell transplant.
Long-term antibiotic treatments may help reduce infections, but early death can occur from repeated lung infections.
CGD may cause these complications:
- Bone damage and infections
- Chronic infections in the nose
- Pneumonia that keeps coming back and is hard to cure
- Lung damage
- Skin damage
- Swollen lymph nodes that stay swollen, occur often, or form abscesses that need surgery to drain them
When to Contact a Medical Professional
If you or your child has this condition and you suspect pneumonia or another infection, call your provider right away.
Tell your provider if a lung, skin, or other infection does not respond to treatment.
Genetic counseling is recommended if you are planning to have children and you have a family history of this disease. Advances in genetic screening and increasing use of chorionic villus sampling (a test that may be done during a woman's 10th to 12th week of pregnancy) have made early detection of CGD possible. However, these practices are not yet widespread or fully accepted.
Glogauer M. Disorders of phagocyte function. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 169.
Holland SM, Uzel G. Phagocyte deficiencies. In: Rich RR, Fleisher TA, Shearer WT, Schroeder JR. HW, Frew AJ, Weyand CM, eds. Clinical Immunology: Principles and Practice. 5th ed. Philadelphia, PA: Elsevier; 2019:chap 22.
Reviewed By: Jatin M. Vyas, MD, PhD, Assistant Professor in Medicine, Harvard Medical School; Assistant in Medicine, Division of Infectious Disease, Department of Medicine, Massachusetts General Hospital, Boston, MA. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.