Chronic granulomatous disease
What is Chronic granulomatous disease?
Chronic Granulomatous Disease (CGD) is a rare inherited immune deficiency affecting the ability of phagocytic cells such as neutrophils, monocytes, macrophages and eosinophils to engulf and destroy foreign particles. This can lead to the impaired killing of bacteria and fungi, resulting in chronic inflammation. Life-threatening recurrent infections can affect the skin, lungs, liver and bones, and patients may develop granulomas, which are swollen areas of inflamed tissue. Symptoms typically begin in infancy or childhood, but milder forms may present later in life.
Synonyms
- Chronic Granulomatous Disorder
- Chronic Granulomatous Infection
- Fatal Granulomatosis of Childhood
- Chronic dysphagocytosis
- Congenital dysphagocytosis
- Granulomatosis, chronic, familial
- Granulomatosis, septic, progressive
- Impotent neutrophil syndrome
- Bridges-Good syndrome
- Quie syndrome
Chronic Granulomatous Disease (CGD) is a rare inherited immune deficiency affecting the ability of phagocytic cells such as neutrophils, monocytes, macrophages and eosinophils to engulf and destroy foreign particles. This can lead to the impaired killing of bacteria and fungi, resulting in chronic inflammation. Life-threatening recurrent infections can affect the skin, lungs, liver and bones, and patients may develop granulomas, which are swollen areas of inflamed tissue. Symptoms typically begin in infancy or childhood, but milder forms may present later in life.
CGD has an estimated prevalence of 1 in 200,000 to 500,000 live births. It predominantly affects males due to the X-linked inheritance pattern of the most common genetic mutation (see RareShare Guide on Genetic Inheritance).
| Name | Abbreviation |
|---|---|
| Chronic Granulomatous Disorder | |
| Chronic Granulomatous Infection | |
| Fatal Granulomatosis of Childhood | |
| Chronic dysphagocytosis | |
| Congenital dysphagocytosis | |
| Granulomatosis, chronic, familial | |
| Granulomatosis, septic, progressive | |
| Impotent neutrophil syndrome | |
| Bridges-Good syndrome | |
| Quie syndrome |
CGD is caused by mutations in genes responsible for producing NADPH oxidase, an enzyme crucial for the production of hydrogen peroxide in white blood cells. This enzyme is necessary for killing certain bacteria and fungi and regulating white blood cell responses to inflammation. About 70% of cases are X-linked mutations in the CYBB gene, while the remaining cases are autosomal recessive mutations in the CYBA, NCF1, NCF2 or NCF4 genes.
Symptoms
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Recurrent, frequent and severe bacterial and fungal infections
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Formation of granulomas in various tissues
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Recurrent pneumonia
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Abscesses in the liver, lungs, spleen, and skin
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Lymphadenitis (inflammation of the lymph nodes)
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Gastrointestinal issues such as colitis and inflammatory bowel disease-like symptoms
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Osteomyelitis (bone infections)
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Delayed growth and development in children
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Delayed wound healing
Diagnosis of CGD is based on clinical presentation and a history of recurrent infections that do not respond to standard treatments. The disease is typically diagnosed in childhood, but some cases are not identified until adulthood. Specific tests may include:
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Dihydrorhodamine (DHR) Flow Cytometry Test: Measures the respiratory burst in phagocytes by detecting the production of reactive oxygen species.
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Nitroblue Tetrazolium (NBT) Test: Assesses the ability of phagocytes to produce reactive oxygen species.
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Genetic Testing: Identifies mutations in the genes associated with CGD.
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Blood Tests: May show elevated white blood cell counts during infections.
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Immunological tests to evaluate overall immune function.
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Prophylactic antibiotics (e.g., trimethoprim-sulfamethoxazole) and antifungal medications (e.g., itraxonazole) to prevent infections.
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Interferon-gamma therapy to boost the immune system’s ability to fight infections.
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Bone Marrow or Stem Cell Transplantation: Can be curative by providing a source of healthy phagocytes.
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Gene Therapy: Experimental and aimed at correcting the defective gene in phagocytes.
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Supportive Care: Includes regular monitoring and management of symptoms and complications.
The outlook for GCD patients is generally very good as healthcare providers can usually manage symptoms and prevent serious infections. The average patient now survives at least 40 years. Treatment may continue indefinitely to keep infections and inflammation from becoming severe. With ongoing treatment and support, many people with CGD live active and fulfilling lives. Prompt treatment is necessary to treat infections before they become severe or life-threatening. Without treatment, children would often die before age ten.
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National Organization for Rare Disorders (NORD): Chronic Granulomatous Disease.
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MedlinePlus: Chronic Granulomatous Disease.
Clinical Trials
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.
Enrolling is easy.
- Complete the screening form.
- Review the informed consent.
- Answer the permission and data sharing questions.
After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.
Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.
Visit sanfordresearch.org/CoRDS to enroll.
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CGD adults having bmt
Created by CGDA | Last updated 27 Oct 2015, 08:37 PM
CGD adults having bmt
Created by CGDA | Last updated 27 Oct 2015, 08:36 PM
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