Chronic granulomatous disease
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
Granulomatous disease, chronic
Congenital and Genetic Diseases; Digestive Diseases; Eye diseases;
Chronic granulomatous disease (CGD) is a rare,
- Frequent bacterial and fungal infections
- Granulomas (areas of inflamed
tissue), most commonly in the gastrointestinal tract and/or the genitourinary system
- Abscesses that involve the lungs, liver, spleen, bones, or skin
- Swollen lymph nodes
- Persistent diarrhea
- Chronic runny nose.
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|80%-99% of people have these symptoms|
|Abnormality of neutrophils||0001874|
|Chronic pulmonary obstruction||0006510|
Photosensitive skin rashes
Sensitivity to sunlight
[ more ]
Swollen lymph nodes in center of chest
Middle ear infection
|Recurrent respiratory infections||
Frequent respiratory infections
Multiple respiratory infections
respiratory infections, recurrent
Susceptibility to respiratory infections
[ more ]
|5%-29% of people have these symptoms|
Red and swollen gums
[ more ]
|Inflammatory abnormality of the eye||0100533|
Infection in blood stream
Open skin sore
Increased spleen size
For background information on how the body naturally responds to invading bacteria, visit the link about the immune system offered by the National Institute of Allergy and
The diagnosis of CGD is established with identification of the
- CYBA, NCF1, NCF2, and NCF4 (the genes related to
autosomal recessivechronic granulomatous disease)
- CYBB is the gene related to the
X-linkedchronic granulomatous disease.
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Early diagnosis of infection is very important, so people with chronic granulomatous disease are generally followed closely by a medical professional. The frequency of follow-up will depend on the severity of the condition.
Medical researchers believe
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- Interferon gamma-1b(Brand name: Actimmune®) Manufactured by InterMune , Inc.
FDA-approved indication: Treatment of chronic granulomatous disease.
National Library of Medicine Drug Information Portal
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
Differential diagnosis includes cystic fibrosis, Crohn disease, hyper-IgE syndrome, allergic bronchopulmonary aspergillosis, glutathione synthetase deficiency, and secondary hemophagocytic lymphohistiocytosis (see these terms). Myeloperoxidase deficiency (see this term) must also be excluded, as it gives a false positive for the DHR assay test.
Visit the Orphanet disease page for more information.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
- The CGD Society has an information page on Chronic granulomatous disease. Please click the link to access this resource.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- MedlinePlus Genetics contains information on Chronic granulomatous disease. This website is maintained by the National Library of Medicine.
- The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- The Merck Manual for health care professionals provides information on Chronic granulomatous disease.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Chronic granulomatous disease in a table called Phenotypic Series. Each entry in OMIM includes a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Chronic granulomatous disease. Click on the link to view a sample search on this topic.
- Nowicki RJ. Chronic Granulomatous Disease. Medscape Reference. 2018; https://emedicine.medscape.com/article/1116022-overview.
- Chronic Granulomatous Disease. NORD. 2018; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/682/viewAbstract.
- Chronic Granulomatous Disease. MedlinePlus Genetics. 2016; https://medlineplus.gov/genetics/condition/chronic-granulomatous-disease/.
- Rosenzweig SD & Holland SM. Chronic granulomatous disease: Treatment and prognosis. UpToDate. 2018; https://www.uptodate.com/contents/chronic-granulomatous-disease-treatment-and-prognosis.
- Leiding JW & Holland SM. Chronic Granulomatous Disease. GeneReviews. February 11, 2016; https://www.ncbi.nlm.nih.gov/books/NBK99496/.
- Vignesh P, Rawat A & Singh S. An Update on the Use of Immunomodulators in Primary Immunodeficiencies. Clin Rev Allergy Immunol.. Nov 21 2016; [Epub ahead of print]:https://www.ncbi.nlm.nih.gov/pubmed/27873163.