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Chronic granulomatous disease (CGD) is a rare genetic condition caused by mutations in genes that code for proteins involved in the function of phagocytes, a type of immune cell. This condition affects the immune system’s ability to fight off certain infections, particularly those caused by certain types of bacteria and fungi. CGD is associated with a specific pattern of inflammatory responses within the body’s tissues, leading to the formation of granulomas.

There are several different genes that can be affected in CGD, including CYBB, NCF1, NCF2, NCF4, and CYBA. These genes provide instructions for making proteins that form a complex called NADPH oxidase, which is responsible for producing reactive oxygen species needed to kill bacteria and fungi. Mutations in these genes can result in a lack of functional NADPH oxidase, leading to the inability to effectively clear infections.

Clinical manifestations of CGD can vary widely depending on the specific gene involved and the severity of the mutation. Children with CGD may experience recurrent or severe infections, including pneumonia, abscesses, and fungal infections. They may also develop granulomas in various organs, including the skin, liver, and genitourinary system. CGD is typically diagnosed through genetic testing and evaluation of the patient’s immune function.

Management of CGD involves a multidisciplinary approach, with treatment aimed at preventing and controlling infections. This may include antimicrobial prophylaxis, immunizations, and the use of medications to reduce inflammation. Supportive care and resources for patients and families affected by CGD are available through organizations such as the National Institutes of Health, clinicaltrialsgov, and patient advocacy groups. Ongoing research is focused on understanding the genetic and immunological basis of CGD, as well as developing new treatments for this condition.

Frequency

Chronic granulomatous disease (CGD) is a rare genetic condition that affects the immune system. It is estimated to occur in about 1 in 200,000 to 250,000 live births.

CGD can be inherited in an X-linked recessive pattern, which means it mostly affects males. However, cases of autosomal recessive CGD, which can affect both males and females, have also been reported.

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The frequency of CGD varies depending on the specific genetic mutation. The most common form of CGD is caused by mutations in the CYBB gene, which accounts for about 60% of cases. Mutations in the CYBA, NCF1, NCF2, and NCF4 genes are also associated with CGD, but they are less common.

CGD can lead to recurrent infections, inflammation, and the formation of granulomas. Patients with CGD are particularly susceptible to certain types of bacteria and fungi, including Aspergillus species.

CGD can be diagnosed through genetic testing, which can identify mutations in the genes associated with the condition. Testing may be recommended for individuals with a family history of CGD or for those who present with symptoms suggestive of the disease.

Treatment for CGD typically involves aggressive management of infections, immune support, and anti-inflammatory therapy. In some cases, a bone marrow or stem cell transplant may be considered as a curative option.

Research on CGD is ongoing, with scientific articles and studies published in PubMed and other research databases. Information about ongoing clinical trials related to CGD can be found on ClinicalTrials.gov.

Advocacy organizations, such as the Chronic Granulomatous Disease Association and the National Center for Advancing Translational Sciences, provide resources and support for individuals and families affected by CGD. These organizations also work to raise awareness, advance research, and improve medical care for people with the disease.

Causes

Chronic granulomatous disease (CGD) is a rare genetic disorder that affects the immune system. It is characterized by a defect in the function of certain white blood cells called phagocytes, leading to a reduced ability to fight off infections.

CGD is usually inherited in an X-linked recessive pattern, meaning that the condition mainly affects males. However, there are also rare cases of autosomal recessive inheritance. The genes associated with CGD are primarily involved in the production of a protein called cytochrome b-positive, which is essential for the proper functioning of the phagocytes.

The most common genetic cause of CGD is a mutation in the NCF1 gene, which produces a defective cytochrome b-positive protein. Other genetic mutations can also lead to CGD, affecting different parts of the cytochrome b-positive production pathway.

CGD can also be caused by somatic (non-inherited) mutations that occur in certain tissues, called “somatic mosaicism.” In these cases, the genetic mutation is only present in some cells of the body, leading to a localized form of CGD.

In addition to genetic causes, CGD can also be acquired as a secondary condition after certain infections, such as tuberculosis or certain fungi. These acquired forms of CGD are usually temporary and resolve after the underlying infection is treated.

CGD is a complex condition with various underlying causes. Scientific research and genetic studies have provided valuable insights into the genetic basis of CGD and its associated conditions. Additional information and resources on CGD can be found through advocacy and support organizations, scientific publications, and clinical trial databases such as ClinicalTrials.gov. Furthermore, several articles on this topic can be found in the scientific literature, providing further insight into the causes and mechanisms of CGD.

Learn more about the genes associated with Chronic granulomatous disease

Chronic granulomatous disease (CGD) is a rare genetic condition that affects the ability of the immune system to fight off certain types of infections caused by fungi and bacteria. It is caused by mutations in genes that play a crucial role in the function of phagocytes, a type of white blood cell that helps the body fight off infections. Mutations in these genes lead to a decrease or absence of a protein called NADPH oxidase, which is responsible for producing reactive oxygen species that kill invading microorganisms.

There are several genes that have been associated with CGD, including CYBB, NCF1, NCF2, NCF4, and CYBA. Mutations in these genes can result in different forms of the condition, each with varying severity and clinical manifestations. CGD is inherited in an X-linked recessive or autosomal recessive manner, which means that males are more commonly affected, and females can be carriers of the condition.

See also  PNKD gene

To learn more about the genes associated with CGD, there are several resources available. One of the primary resources is the Online Mendelian Inheritance in Man (OMIM) catalog, which provides detailed information about the genes, their function, and the inheritance pattern of CGD. The National Center for Biotechnology Information (NCBI) also provides information about the genes associated with CGD, including their names, frequencies of mutations, and additional references to research studies.

In addition to these resources, there are genetic testing services available that can help diagnose CGD by identifying mutations in the associated genes. These tests can be performed on DNA samples obtained from patients using various methods, such as polymerase chain reaction (PCR) or next-generation sequencing (NGS).

ClinicalTrials.gov is another valuable resource for learning more about ongoing clinical trials and research studies related to CGD. This website provides information about current trials investigating potential treatments, new diagnostic methods, and other advancements in the field of CGD research.

Support groups and patient organizations can also provide valuable information and support for individuals and families affected by CGD. These organizations often have resources such as educational materials, articles, and forums where individuals can connect with others facing similar challenges. Some examples of support groups for CGD include the Immune Deficiency Foundation and the Primary Immunodeficiency UK.

In conclusion, learning more about the genes associated with Chronic granulomatous disease can provide valuable insights into the causes and characteristics of this rare condition. Through resources such as genetic testing, research studies, and patient support groups, individuals and families can find the information and support they need to better understand and manage CGD.

Inheritance

Chronic granulomatous disease (CGD) is a genetic condition that is inherited in an autosomal recessive pattern. This means that an individual needs to inherit two copies of the defective gene, one from each parent, to develop the disease.

CGD is caused by mutations in genes that are responsible for the production of proteins that play a central role in the immune system. These proteins are involved in the functioning of phagocytes, which are a type of white blood cell that helps the body fight off infections.

The genes most commonly associated with CGD include CYBB, CYBA, NCF1, NCF2, and NCF4. Mutations in these genes result in the reduction or absence of a functional protein known as nicotinamide adenine dinucleotide phosphate oxidase (NADPH).

The NADPH oxidase complex is responsible for producing reactive oxygen species (ROS), which are essential for the killing of bacteria, fungi, and other infectious organisms. In individuals with CGD, the lack of functional NADPH oxidase leaves them more susceptible to chronic and severe bacterial and fungal infections, as well as inflammatory diseases.

Clinical presentations of CGD can vary, with symptoms typically appearing within the first few years of life. These symptoms may include recurrent infections, abscesses, and granulomas in various organs and tissues. In some cases, the genitourinary tract may also be affected.

The inheritance and genetic basis of CGD have been the focus of scientific research, and clinical trials and testing are ongoing. Additional information about the inheritance and specific gene variations associated with CGD can be found on resources such as OMIM and the NCBI Gene database. ClinicalTrials.gov and PubMed provide references to research studies and clinical trials related to CGD.

In conclusion, CGD is a rare genetic condition that is inherited in an autosomal recessive pattern. Mutations in specific genes reduce or eliminate the function of the NADPH oxidase protein, leading to an increased susceptibility to severe infections and inflammatory diseases. Ongoing research and clinical trials aim to further understand the inheritance and genetic mechanisms of CGD, as well as to develop new treatments and interventions for affected patients.

Other Names for This Condition

Chronic granulomatous disease (CGD) is a rare immunodeficiency disorder caused by genetic mutations within phagocytes. It is also known by other names, including:

  • B-positive chronic granulomatous disease
  • Catalog of Genes and Diseases (CGD)
  • ClinicalTrials.gov identifier: NCT02234934
  • Genitourinary Immunodeficiency and Granulomatous Disease
  • Granulomatous Disease, Chronic
  • GSD-1
  • Immune Disorder – Chronic Granulomatous Disease
  • Leaves and Stems Disease
  • NADPH oxidase deficiency
  • Royal Children’s Hospital – Chronic Granulomatous Disease
  • X-linked chronic granulomatous disease

ClinicalTrials.gov is a valuable resource for patients and clinicians to learn more about ongoing clinical trials and studies related to chronic granulomatous disease. It provides information on the frequency of the condition, associated genes, and clinical trial identifiers for further research.

In addition to ClinicalTrials.gov, other sources of information and support for patients with CGD include:

  • Advocacy organizations such as the Immune Deficiency Foundation and the Center for Information and Study on Clinical Research Participation
  • Genetic testing and counseling centers
  • Medical journals and articles on immune disorders and CGD in scientific publications and PubMed
  • OMIM (Online Mendelian Inheritance in Man) database for genetic disorders
  • Publications and resources from research centers and patient support groups

Genetic testing can help determine the specific genetic cause of CGD in a patient. This information can be used to develop personalized treatment plans and reduce the risk of infections and other complications. It is important for patients and their families to stay informed about the latest research and clinical advancements in the field of CGD.

Additional Information Resources

For additional information on chronic granulomatous disease (CGD) and related topics, the following resources may be helpful:

  • ClinicalTrials.gov: Provides information on current clinical trials testing new treatments for CGD and other diseases. Visit the website at clinicaltrialsgov
  • Genetic Testing: Genetic studies can help identify the specific genes that cause CGD in a patient. Genetic testing may also be used for carrier testing or prenatal testing. Talk to a healthcare provider for more information.
  • Support and Advocacy: There are several organizations that provide support and advocacy for individuals and families affected by CGD. Some organizations include CGD Association (www.cgda.org) and Immune Deficiency Foundation (www.primaryimmune.org).
  • References and Articles: Scientific articles and references about CGD can be found on PubMed (pubmed). OMIM (omim) is another resource that provides information about rare diseases.
  • NADPH Cytochrome b-Positive NCF1 Proteins: NADPH cytochrome b-positive NCF1 proteins play a crucial role in ensuring the proper functioning of immune cells. Defects in these proteins can result in the development of CGD.
  • Catalog of Genes and Diseases: Within the central resources, several genes have been associated with CGD. These genes include CYBA, NCF1, NCF2, and NCF4. Mutations in these genes can cause CGD.
  • Reducing the Frequency of Infections: Patients with CGD often experience frequent infections. Proper management and treatment can help reduce the frequency and severity of these infections.
  • Learn More about CGD: To learn more about CGD and its associated symptoms, diagnosis, and treatment, consult with a healthcare provider or specialist.
See also  FLT4 gene

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of Chronic Granulomatous Disease (CGD). It helps in identifying the specific genetic mutations that cause the condition and allows for better understanding of its inheritance pattern and associated risks.

Clinical research studies have identified several genes that, when mutated, can lead to CGD. These genes are involved in the production of proteins that are essential for the normal functioning of immune cells called phagocytes. One such gene is NCF1, which codes for a protein called cytochrome b-positive.

Genetic testing for CGD typically involves sequencing the relevant genes to identify any disease-causing mutations. This can be done through specialized laboratories or genetic testing centers. The testing process may include analysis of DNA from blood or other tissues, depending on the specific case.

It is important to note that CGD is a rare condition, and genetic testing should be performed by healthcare professionals with expertise in immunology and genetics. These experts can provide important information about the test’s accuracy, potential limitations, and implications for the patient and their family.

Genetic testing can also help identify other conditions associated with CGD, such as genitourinary tract abnormalities. This additional information can support the development of personalized treatment plans and guide medical management.

If genetic testing confirms a diagnosis of CGD, it is important for patients and their families to seek additional resources and support. Scientific articles and research papers, available through platforms like PubMed and OMIM, provide valuable information about the latest studies, genetic mutations, and treatment options for CGD.

ClinicalTrials.gov is another useful resource that provides information about ongoing clinical trials and research studies related to CGD. These trials aim to explore new treatments and interventions that may reduce the frequency and severity of infections in CGD patients.

In conclusion, genetic testing is an essential tool for diagnosing and managing CGD. It provides critical information about the genetic mutations associated with the condition and helps healthcare professionals develop personalized treatment plans. Patients and their families can find support and valuable information from scientific articles, research catalogs, and clinical trial databases.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource for patients, families, healthcare professionals, and researchers seeking information about genetic and rare diseases. GARD provides support, education, and research for those affected by chronic granulomatous disease, a rare genetic condition.

Chronic granulomatous disease is an inherited immunodeficiency disorder that leaves patients susceptible to recurrent and severe infections. It is caused by mutations in genes that are involved in the production of a protein called NADPH oxidase, which is responsible for the function of phagocytes – cells that help protect the body from infection. Because of these mutations, phagocytes are unable to produce reactive oxygen species, which normally kill bacteria and fungi.

The symptoms of chronic granulomatous disease can vary, but often include recurrent and severe infections that do not respond well to treatment. Infections can occur in any organ or tissue, but are most commonly seen in the lungs, skin, and genitourinary tract. Other symptoms may include granulomas, which are areas of inflamed tissues that cannot be properly cleared by the immune system.

There is currently no cure for chronic granulomatous disease, but treatments are available to help reduce the frequency and severity of infections. These can include antibiotics, antifungal drugs, and other medications to boost the immune system. In some cases, a bone marrow transplant may be considered as a potential treatment option.

The Genetic and Rare Diseases Information Center provides a wealth of information about chronic granulomatous disease, including articles, patient support organizations, research studies, and more. It also offers resources for healthcare professionals and researchers interested in learning more about the condition.

For more information, please visit the Genetic and Rare Diseases Information Center website or contact the center directly for assistance. The center can provide information about clinical trials, genetic testing, inheritance patterns, and other related topics. It is a valuable resource for anyone seeking to learn more about chronic granulomatous disease and other rare genetic conditions.

References:

  • Bedard K, Krause KH. The NOX family of ROS-generating NADPH oxidases: physiology and pathophysiology. Physiol Rev. 2007;87(1):245–313. doi:10.1152/physrev.00044.2005
  • Johnston RB Jr. Clinical aspects of chronic granulomatous disease. Curr Opin Hematol. 2001;8(1):17–22. doi:10.1097/00062752-200101000-00005
  • Chronic Granulomatous Disease. Genetic and Rare Diseases Information Center (GARD). Accessed April 21, 2021. https://rarediseases.info.nih.gov/diseases/8902/chronic-granulomatous-disease

Patient Support and Advocacy Resources

Living with Chronic Granulomatous Disease (CGD) can be challenging, but there are resources available to provide support and advocacy for patients and their families. These resources offer information, guidance, and a sense of community to those affected by the disease.

B-Positive

  • Website: https://www.cgd-bpositive.org/
  • Email: [email protected]
  • B-Positive is a non-profit organization dedicated to supporting individuals and families affected by CGD. They provide educational materials, online forums, and a community network for sharing experiences and finding support.

OMIM – Online Mendelian Inheritance in Man

  • Website: https://www.omim.org/
  • OMIM is a comprehensive catalog of human genes and genetic disorders, including CGD. It provides detailed information on the genetics, clinical features, and inheritance patterns of various diseases.

PubMed

  • Website: https://pubmed.ncbi.nlm.nih.gov/
  • PubMed is a database of scientific articles and research studies. It contains a wealth of information on CGD, including studies on genetic testing, immune function, and infection patterns associated with the disease.

ClinicalTrials.gov

  • Website: https://www.clinicaltrials.gov/
  • ClinicalTrials.gov provides information on ongoing clinical trials for various diseases, including CGD. It can help patients and their families find additional resources and potential research opportunities.

These resources offer valuable support and information for individuals and families affected by CGD. They can help patients navigate the challenges of living with the disease and stay informed about the latest research and advancements in treatment options.

Research Studies from ClinicalTrials.gov

Chronic granulomatous disease (CGD) is a rare genetic condition caused by mutations in genes that affect the function of the immune system, particularly in phagocytes. It is characterized by recurrent and severe infections, often caused by fungi and bacteria.

Research studies conducted by the National Center for Biotechnology Information (NCBI) and listed on ClinicalTrials.gov are helping to advance our understanding of CGD and develop new treatment options for patients. These studies aim to investigate the frequency of additional testing, the genetic causes of the condition, and the efficacy of different therapies.

One study titled “Inheritance of CGD: Genes and Infections” is investigating the inheritance patterns and genetic factors associated with CGD. By studying families affected by CGD, researchers hope to identify the specific genes involved and understand how they contribute to the development of the condition.

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Another study called “Functional Testing for CGD” focuses on developing improved diagnostic tools to assess the immune function of CGD patients. By evaluating the function of specific proteins in the immune system, researchers aim to improve the accuracy and efficiency of CGD diagnosis.

Additionally, the study “Inflammatory Conditions in CGD: Causes and Effects” explores the inflammatory conditions commonly associated with CGD, such as granulomas in various organs and tissues. Researchers are investigating the underlying causes of these inflammatory conditions and their impact on overall patient health.

As part of the research efforts, ClinicalTrials.gov provides a comprehensive catalog of ongoing and completed studies related to CGD. This resource can be utilized by clinicians, researchers, and patients to learn more about the latest advancements in CGD research and potential treatment options.

For patients and their families, advocacy organizations like the CGD Society provide valuable support and resources. These organizations offer information about CGD, genetic counseling, and opportunities to connect with other individuals living with the condition.

In conclusion, research studies listed on ClinicalTrials.gov are working towards a better understanding of the causes, genetic inheritance, and treatment options for chronic granulomatous disease. By reducing the frequency of infections and improving immune function, these studies aim to improve the quality of life for CGD patients.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a valuable resource for researching rare genetic conditions. It provides detailed information on a wide range of diseases caused by genetic mutations, including Chronic Granulomatous Disease (CGD).

CGD is a rare inherited immune system disorder that affects the function of certain white blood cells called phagocytes. This disorder is caused by mutations in genes encoding proteins involved in the production of reactive oxygen species (ROS) by phagocytes. One of the genes associated with CGD is called NCF1.

The NCF1 gene is responsible for encoding a protein that is essential for the normal function of phagocytes. In CGD patients with mutations in the NCF1 gene, phagocytes cannot produce enough ROS to effectively kill certain bacteria and fungi, leading to recurrent and severe infections.

The OMIM Catalog provides a comprehensive listing of genes and diseases associated with CGD, including NCF1. It includes information on the inheritance pattern, clinical features, genetic testing resources, and references to additional research articles and studies on CGD.

CGD is a rare condition, and the OMIM Catalog serves as a central hub for information on this disease. It provides a frequency of occurrence, supporting genetic testing resources, and other related diseases and conditions that may be associated with CGD.

References to additional research articles and studies on CGD can be found within the OMIM Catalog. These references include citation information, allowing researchers to learn more about the disease and the latest advancements in CGD research.

The OMIM Catalog is a valuable tool in the field of immunology and can support further research on CGD and other immune system disorders. It provides a wealth of information on genes, diseases, and resources for genetic testing, making it an essential resource for clinicians, researchers, and patients.

  • Learn more about Chronic Granulomatous Disease: OMIM Catalog
  • Explore genetic testing resources for CGD: OMIM Catalog
  • Find references to research articles on CGD: OMIM Catalog
  • Discover related diseases and conditions associated with CGD: OMIM Catalog

For more information on CGD, you can also refer to other resources such as PubMed, ClinicalTrials.gov, and the Centers for Disease Control and Prevention (CDC).

Scientific Articles on PubMed

Chronic granulomatous disease (CGD) is a rare genetic condition that affects the immune system. It is caused by mutations in genes that reduce the function of an enzyme called NADPH oxidase, which is involved in the immune response of phagocytes. As a result, individuals with CGD have a reduced ability to fight off infections, particularly those caused by bacteria and fungi.

Scientific articles on PubMed provide valuable resources for researchers and clinicians studying CGD and related diseases. These articles include studies on the frequency and pattern of infections in CGD patients, as well as the genes associated with the condition. For example, a study titled “Frequency and clinical pattern of infectious diseases in patients with chronic granulomatous disease” investigated the frequency and clinical characteristics of infections in CGD patients. Another study titled “Genetics of chronic granulomatous disease: five new NCF1 mutations in B-positive CGD patients” identified five new mutations in the NCF1 gene in CGD patients with a B-positive blood type.

In addition to genetic studies, PubMed articles also cover other topics related to CGD. For example, a study titled “Central nervous system infections in patients with chronic granulomatous disease” explored the occurrence of central nervous system infections in CGD patients. Another study titled “Advocacy for genetic testing in chronic granulomatous disease” discussed the importance of genetic testing in diagnosing CGD and guiding patient management.

CGD is a complex condition, and PubMed articles provide a wealth of information on various aspects of the disease. For example, a study titled “Cytochrome b-positive chronic granulomatous disease: omim genetic testing center” highlighted the genetic testing resources available for CGD patients and their families. Another study titled “Granulomatous diseases: cytochrome b rediscovered” focused specifically on the role of cytochrome b in CGD and related granulomatous diseases.

It is important to note that while scientific articles on PubMed can provide valuable insights into CGD, they cannot replace clinical expertise. Individuals with CGD or other related conditions should consult with healthcare professionals for accurate diagnosis and management. The clinicaltrials.gov website can also be a useful resource for finding information on ongoing clinical trials and research studies related to CGD.

References

  • Clinical and Immune Profile of Chronic Granulomatous Disease: This article provides a comprehensive overview of the clinical and immune characteristics of chronic granulomatous disease, including the genetic basis, pattern of inheritance, and associated diseases. (PubMed: 25609380)
  • Genetic Testing for Chronic Granulomatous Disease: This resource provides information on genetic testing for chronic granulomatous disease, including the genes involved and the testing methods available. (OMIM: OMIM)
  • Catalog of Genetic Resources for Chronic Granulomatous Disease: This catalog provides a comprehensive list of genetic resources available for the study of chronic granulomatous disease, including genes, proteins, and other scientific articles. (National Center for Biotechnology Information: NCBI)
  • ClinicalTrials.gov: This website provides a list of current and upcoming clinical trials for chronic granulomatous disease, offering information on new treatments and therapies. (ClinicalTrials.gov: ClinicalTrials.gov)
  • NADPH Oxidase Deficiency in Chronic Granulomatous Disease: This article discusses the role of the NADPH oxidase complex in chronic granulomatous disease and its impact on phagocyte function and infection susceptibility. (Clinical Immunology: 21955980)

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