Definition

Chronic granulomatous disease (CGD) is an inherited disorder in which certain immune system cells do not function properly. This leads to repeated and severe infection.

Alternative Names

CGD; Fatal granulomatosis of childhood; Chronic granulomatous disease of childhood; Progressive septic granulomatosis; Phagocyte deficiency - chronic granulomatous disease

Causes

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 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 both parents in order to have the disease.

Symptoms

CGD can cause many types of skin infections that are hard to treat, including:

  • Blisters or sores on the face (impetigo)
  • Eczema
  • 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

Treatment

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.

Outlook (Prognosis)

Long-term antibiotic treatments may help reduce infections, but early death can occur from repeated lung infections.

Possible Complications

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.

Prevention

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.

References

Glogauer M. Disorders of phagocyte function. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 25th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 169.

Uzel G, Holland SM. Phagocyte deficiencies. In: Rich RR, Fleisher TA, Shearer WT, et al, eds. Clinical Immunology. 4th ed. Philadelphia, PA: Elsevier Saunders; 2013:chap 21.

Version Info

  • Last reviewed on 11/27/2016
  • Arnold Lentnek, MD, Infectious Diseases Medical Practice of NY and Clinical Research Centers of CT. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

ADAM QualityA.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is the first of its kind, requiring compliance with 53 standards of quality and accountability, verified by independent audit. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial process. A.D.A.M. is also a founding member of Hi-Ethics (www.hiethics.com) and subscribes to the principles of the Health on the Net Foundation (www.hon.ch).

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 2002 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

Share This Page: