People with chronic granulomatous disease have persistent infections of the skin, lungs, lymph nodes, mouth, nose, urinary tract, and intestine.
Doctors diagnose the disorder based on blood tests.
Treatment involves drugs to prevent infections and to reduce the number and severity of infections, as well as transfusions and stem cell transplantation.
(See also Overview of Immunodeficiency Disorders Overview of Immunodeficiency Disorders Immunodeficiency disorders involve malfunction of the immune system, resulting in infections that develop and recur more frequently, are more severe, and last longer than usual. Immunodeficiency... read more .)
Chronic granulomatous disease is a primary immunodeficiency disorder Primary immunodeficiency Immunodeficiency disorders involve malfunction of the immune system, resulting in infections that develop and recur more frequently, are more severe, and last longer than usual. Immunodeficiency... read more . It is usually inherited as an X-linked recessive Inheritance of Single-Gene Disorders Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body. Chromosomes are made of a very long strand... read more disorder. X-linked means that the disorder is due to a mutation in a gene on the X (sex) chromosome. X-linked recessive disorders occur only in boys. Sometimes chronic granulomatous disease is inherited as an autosomal (not X-linked) recessive disorder Recessive disorders Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body. Chromosomes are made of a very long strand... read more . For autosomal recessive disorders to be inherited, two genes for the disorder, one from each parent, are required.
Normally, phagocytes (types of white blood cells Components of the Immune System The immune system is designed to defend the body against foreign or dangerous invaders. Such invaders include Microorganisms (commonly called germs, such as bacteria, viruses, and fungi) Parasites... read more , including neutrophils, eosinophils, monocytes, and macrophages) ingest and kill microorganisms. In chronic granulomatous disease, phagocytes can ingest but cannot produce the substances (such as hydrogen peroxide and superoxide) that kill certain bacteria and fungi.
Symptoms of CGD
Symptoms of chronic granulomatous disease usually first appear during early childhood but sometimes not until adolescence. Chronic infections occur in the skin, lungs, lymph nodes, mouth, nose, urinary tract, and intestine. People may have a bone infection (osteomyelitis Osteomyelitis Osteomyelitis is a bone infection usually caused by bacteria, mycobacteria, or fungi. Bacteria, mycobacteria, or fungi can infect bones by spreading through the bloodstream or, more often, by... read more ). Pockets of pus (abscesses) can develop around the anus and in the lungs and liver.
The lymph nodes Overview of the Lymphatic System The lymphatic system is a vital part of the immune system. It includes organs such as the thymus, bone marrow, spleen, tonsils, appendix, and Peyer patches in the small intestine that produce... read more tend to fill with bacteria and enlarge. The skin over the lymph nodes may break down and allow pus to drain.
The liver and spleen enlarge.
Children may grow slowly.
Diagnosis of CGD
Sometimes genetic testing
To diagnose chronic granulomatous disease, doctors take a sample of blood and send it to a laboratory, which measures the activity of phagocytes in response to microorganisms. Doctors may also do genetic tests to check for the specific mutations that cause this disorder.
Treatment of CGD
Antibiotics and antifungal drugs to prevent and treat infections
Transfusions of granulocytes
Stem cell transplantation
Antibiotics, usually trimethoprim/sulfamethoxazole, are given regularly and indefinitely to prevent infection. Antifungal drugs (such as itraconazole) are usually also given regularly to help prevent fungal infections.
Interferon gamma (a drug that modifies the immune system), injected 3 times a week, can reduce the number and severity of infections.
Transfusions of granulocytes can be lifesaving when the other, usual treatments have been ineffective. Granulocytes are a type of white blood cell that includes some phagocytes.
Stem cell transplantation Stem Cell Transplantation Stem cell transplantation is the removal of stem cells (undifferentiated cells) from a healthy person and their injection into someone who has a serious blood disorder. (See also Overview of... read more has cured some people with chronic granulomatous disease. Close relatives who have a similar tissue and blood types are the best donors. If they are willing to donate, they can be tested to determine whether their tissue and blood types are compatible with those of the affected person. Before transplantation, the person is given drugs to suppress the immune system (immunosuppressants Suppression of the Immune System Transplantation is the removal of living, functioning cells, tissues, or organs from the body and then their transfer back into the same body or into a different body. The most common type of... read more ) and thus help prevent rejection of the transplant.
More Information about CGD
The following is an English-language resource that may be useful. Please note that THE MANUAL is not responsible for the content of this resource.
Immune Deficiency Foundation: Chronic granulomatous disease and other phagocytic cell disorders: General information on chronic granulomatous disease, including information on diagnosis and treatment