Chronic granulomatous disease

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 infections.

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 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 must inherit the defective X gene from each parent in order to have the disease.

Symptoms

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

CGD can also cause:

Exams and Tests

The health care provider will do an examination and may find:

There may be signs of a bone infection, which may affect many bones.

Tests that may be done include:

Treatment

Antibiotics are used to treat infections caused by this condition. Chronic use of antibiotics may 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:

When to Contact a Medical Professional

If you or your child has this condition and you suspect pneumonia or another infection, contact 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.

References

Cunningham-Rundles C. Primary immunodeficiency diseases. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 236.

Holland SM, Uzel G. Neutrophils and neutrophil disorders. In: Rich RR, Fleisher TA, Schroeder HW, Weyand CM, Corry DB, Puck JM, eds. Clinical Immunology. 6th ed. Philadelphia, PA: Elsevier; 2023:chap 39.


Review Date: 12/4/2022
Reviewed By: Jatin M. Vyas, MD, PhD, Associate Professor in Medicine, Harvard Medical School; Associate in Medicine, Division of Infectious Disease, Department of Medicine, Massachusetts General Hospital, Boston, MA. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. No warranty of any kind, either expressed or implied, is made as to the accuracy, reliability, timeliness, or correctness of any translations made by a third-party service of the information provided herein into any other language. � 1997- A.D.A.M., a business unit of Ebix, Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
� 1997- adam.comAll rights reserved.