Complement Component 8 deficiency, also known as C8 deficiency, is a rare genetic condition that affects the immune system.

Complement Component 8 is a part of the complement system, which is a complex network of proteins that play an important role in the body’s defense against infections. This system helps to identify and destroy foreign substances, such as bacteria and viruses.

C8 deficiency is associated with an increased susceptibility to infections, particularly those caused by the bacterium Neisseria meningitidis. People with this condition have a higher prevalence of meningococcal meningitis, a potentially life-threatening infection that affects the lining of the brain and spinal cord.

The condition is caused by mutations in the C8A, C8B, or C8G genes, which provide instructions for making the proteins that form the C8 complex. These mutations can result in either a complete absence or a reduced amount of functional C8 proteins, leading to a deficiency in the complement system.

Testing for C8 deficiency can be done through genetic testing. This can help with the diagnosis of the condition and provide additional information on the specific gene mutations present in the patient.

More information on Complement Component 8 deficiency can be found in scientific articles, as well as through advocacy organizations and resources like PubMed and OMIM. These resources provide references, articles, and support for patients and their families, as well as information on the associated diseases and testing.

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It is important to learn about the condition and its genetic inheritance patterns to provide appropriate support and management for individuals with C8 deficiency.

Frequency

About 1 in 1,000 individuals in the general population have Complement component 8 deficiency, according to the OMIM catalog. It is a rare condition that affects the complement component 8, a type of protein in the complement system that helps in immune response against certain types of infections.

Complement component 8 deficiency is inherited in an autosomal recessive manner. This means that both parents must carry a mutated gene for the disease to be passed on to their offspring. There are different genes associated with Complement component 8 deficiency, including the C8A, C8B, and C8G genes.

Individuals with Complement component 8 deficiency are at an increased risk of developing certain diseases. The deficiency is associated with increased susceptibility to Neisseria infections, such as meningitis caused by Neisseria meningitidis.

Testing for Complement component 8 deficiency can be done through genetic testing. More information on genetic testing and the genes associated with this condition can be found on the OMIM website and other genetic resources.

Advocacy and support centers, such as the Complement Component Deficient Patient Advocacy Center, are available to provide resources and support to individuals with Complement component 8 deficiency and their families.

Additional articles and information on Complement component 8 deficiency and related diseases can be found in immunology and genetics journals, as well as through PubMed and other scientific databases.

It is important for individuals with Complement component 8 deficiency to learn about the condition, its causes, inheritance patterns, and associated diseases. This knowledge can help with early detection, management, and treatment of the condition.

References:

1. OMIM catalog: Complement component 8 deficiency
2. Complement Component Deficient Patient Advocacy Center
3. PubMed

Causes

• Complement component 8 deficiency is a rare immunodeficiency disorder caused by genetic mutations in the genes C8A, C8B, or C8G.
• This condition is inherited in an autosomal recessive manner, which means that both copies of the gene in each cell have mutations.
• C8 deficiency is usually associated with other rare diseases, such as Neisseria meningitidis infection.
• Testing for C8 deficiency can be done through immunologic testing, which measures the levels of complement components in the blood.
• Information about the prevalence and genetic frequency of this condition can be found in resources like the Online Mendelian Inheritance in Man (OMIM) and scientific articles from PubMed.

Additional support and resources for patients with C8 deficiency can be found at the Center for Complement Immunology and the National Organization for Rare Diseases (NORD).

Learn more about C8 deficiency, associated diseases, and genetic testing options by visiting the links below:

• Complement component 8 deficiency – Information about this condition on OMIM
• Complement testing – Learn about immunologic testing for complement deficiencies
• Rare Diseases – Catalog of rare diseases associated with complement component deficiencies
• Genes – Names and references for the genes associated with complement component deficiencies

Learn more about the genes associated with Complement component 8 deficiency

Complement component 8 deficiency is a rare genetic condition that affects the immune system. It is caused by mutations in the genes responsible for producing the complement component 8 protein. Complement component 8 is part of the immune system’s complement pathway, which helps to clear foreign substances, such as bacteria or viruses, from the body.

Patient information about this condition can be found on websites like OMIM (Online Mendelian Inheritance in Man) or through resources provided by advocacy and support organizations. These resources can provide additional information about the genetic causes of Complement component 8 deficiency and the types of diseases associated with this condition.

Testing for Complement component 8 deficiency can be done through genetic testing. This testing can help confirm a diagnosis and determine the specific gene mutations that are present. The frequency and prevalence of Complement component 8 deficiency in the population are currently unknown.

More information about the genes associated with Complement component 8 deficiency can be found in scientific articles and research papers. PubMed is a valuable resource for finding relevant articles on this topic. These articles can provide further insight into the genetics of Complement component 8 deficiency and the diseases it may be associated with.

The catalog of human genes and genetic disorders can also provide useful information on genes associated with Complement component 8 deficiency. This catalog includes information on gene names, inheritance patterns, and other types of genetic diseases.

One of the known associations of Complement component 8 deficiency is with Neisseria meningitidis, a type of bacteria that can cause meningitis. Deficiencies in Complement component 8 can increase the risk of severe infection with this bacteria.

In summary, Complement component 8 deficiency is a rare genetic condition associated with mutations in the genes that produce the complement component 8 protein. Testing for this condition can be done through genetic testing, and more information about the genes and diseases associated with Complement component 8 deficiency can be found through resources like OMIM, PubMed, and the catalog of human genes and genetic disorders.

Inheritance

Complement component 8 deficiency is a rare genetic condition that can be inherited.

There are two main types of inheritance associated with this condition:

1. Autosomal recessive inheritance: In this type of inheritance, both parents must be carriers of the genetic mutation for their child to be affected. Carriers of complement component 8 deficiency do not typically show symptoms of the condition themselves, but can pass the gene mutation on to their children.
2. Autosomal dominant inheritance: In a small number of cases, complement component 8 deficiency can be inherited in an autosomal dominant manner. This means that an affected individual has a 50% chance of passing on the gene mutation to each of their children. Unlike autosomal recessive inheritance, a child who inherits the gene mutation from one affected parent will typically show symptoms of the condition.

It is important to note that the prevalence of complement component 8 deficiency is relatively rare. There are limited articles and scientific studies available on the condition, which can make it challenging to find comprehensive information. However, there are advocacy groups and resources, such as the OMIM (Online Mendelian Inheritance in Man) catalog, that provide additional information about the inheritance and associated diseases.

Testing for complement component 8 deficiency can be done to confirm a diagnosis. Genetic testing may be recommended to identify the specific gene mutation responsible for the condition. In some cases, additional testing may be necessary to rule out other related genetic diseases or conditions.

For patients with complement component 8 deficiency, it is important to learn about the causes and types of associated diseases. Neisseria meningitidis infection is a common complication of complement component 8 deficiency. It is recommended to seek support and information from genetic counseling centers, advocacy groups, and other resources to better understand and manage the condition.

References for this information can be found from scientific articles and databases such as PubMed, OMIM, and other scientific publications.

Other Names for This Condition

• Deficiency of complement component 8
• Complement component 8 deficiency
• Deficiency, C8
• Deficiency, complement component 8
• C8 deficiency
• C8D
• Complement C8 alpha-gamma deficiency
• Complement C8 beta deficiency
• C8 deficiency with Neisseria meningitidis infection
• Meningococcal infection due to properdin deficiency type I
• Meningococcal infection due to properdin deficiency type II
• Meningococcal infection due to terminal complement pathway deficiency
• Immunologic deficiency with C8 deficiency predisposed to Neisseria infections
• Rare diseases associated with deficiency of complement component 8 and related genes

Additional information about this condition can be found on the following websites:

• OMIM: This online catalog of human genes and genetic disorders provides comprehensive information on the condition and associated genes. (https://omim.org/)
• PubMed: This database contains scientific articles and references on the prevalence, inheritance, and causes of this condition. (https://pubmed.ncbi.nlm.nih.gov/)
• Advocacy Center: This organization provides support, advocacy, and resources for patients and families affected by this condition. (https://www.advocacy-center.org/)

Learn more about the genes associated with complement component 8 deficiency at:

• The Genetic Testing Registry: This resource provides information on genetic testing for this condition and related genes. (https://www.ncbi.nlm.nih.gov/gtr/)
• The Human Gene Mutation Database (HGMD): This database contains information on the genetic mutations associated with this condition. http://www.hgmd.cf.ac.uk/ac/index.php

Additional Information Resources

For additional information on Complement component 8 deficiency and related rare diseases, you can refer to the following resources:

• The National Institutes of Health Genetic and Rare Diseases Information Center: This website provides patient advocacy resources, scientific articles, and information on the causes, inheritance patterns, and prevalence of rare diseases. You can learn more about Complement component 8 deficiency and associated conditions.
• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. You can access detailed information on Complement component 8 deficiency, including its clinical features, genetic variations, and frequency in the population.
• PubMed: PubMed is a database of scientific articles. By performing a search with keywords such as “Complement component 8 deficiency,” you can find recent research papers and studies related to this condition.

In addition to these resources, genetic testing centers and immunology clinics may provide specific information and support for patients with Complement component 8 deficiency. They can offer genetic testing to confirm the diagnosis and provide guidance on disease management and treatment options.

Genetic Testing Information

Genetic testing is recommended for individuals with a rare condition called Complement Component 8 deficiency. This condition is associated with an increased susceptibility to infections, particularly those caused by Neisseria meningitidis.

The prevalence of complement component 8 deficiency is rare, with only a few reported cases in the scientific literature. The condition is caused by mutations in the genes that encode for complement component 8.

Complement component 8 deficiency can be inherited in different ways, including autosomal recessive and autosomal dominant inheritance patterns.

To diagnose complement component 8 deficiency, genetic testing can be performed. This testing analyzes the specific genes associated with the condition and can provide information on the presence of mutations or variants that may be causing the deficiency.

There are several resources available for genetic testing, including PubMed, OMIM, and genetic testing centers. These resources provide additional information on the genes associated with complement component 8 deficiency, as well as the frequency and inheritance patterns of the condition.

For patients and their families, genetic testing can provide important information on the causes and potential risks associated with complement component 8 deficiency. It can also help in identifying other diseases or conditions that may be associated with the deficiency.

Support and advocacy organizations can also provide valuable support and resources for individuals with complement component 8 deficiency and their families. These organizations can help patients navigate the genetic testing process and connect them with additional support and resources.

In conclusion, genetic testing is recommended for individuals with complement component 8 deficiency to learn more about the condition and its associated genes. This testing can provide important information on the frequency, inheritance patterns, and potential risks associated with the deficiency. It is important to utilize the available resources and support to ensure a comprehensive understanding of the condition and to access appropriate genetic testing options.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides information about Complement Component 8 deficiency. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health.

Complement Component 8 deficiency is a rare genetic condition that affects the complement system, which is part of the body’s immune system. This condition is associated with an increased susceptibility to meningococcal infections caused by Neisseria meningitidis, a type of bacteria.

The prevalence of Complement Component 8 deficiency is not well known, but it is estimated to be a rare condition. The exact frequency of this condition is unknown.

There are different types of Complement Component 8 deficiency, which can be caused by mutations in different genes. Genetic testing can help identify the specific gene mutation associated with an individual’s condition.

Testing for Complement Component 8 deficiency is available through specialized laboratories that perform complement testing. Genetic testing can also be done to identify the specific gene mutation associated with the condition.

During complement testing, the individual’s complement levels are measured, and the different components of the complement system are evaluated. Genetic testing involves analyzing the individual’s DNA for mutations in the genes associated with Complement Component 8 deficiency.

Scientific research on Complement Component 8 deficiency and related rare diseases is ongoing. Researchers are working to better understand the causes and inheritance patterns of this condition.

Resources for patients and families affected by Complement Component 8 deficiency can be found through GARD’s website. GARD provides a wide range of information, including basic information about the condition, tips for finding support and advocacy organizations, and links to other helpful resources.

GARD also provides links to additional scientific articles, medical literature, and other sources of information for those who are interested in learning more about Complement Component 8 deficiency.

References:

1. OMIM – Online Mendelian Inheritance in Man. Complement Component 8 Deficiency. Available from: https://omim.org/entry/613790.
2. PubMed. Complement component 8 deficiency. Available from: https://pubmed.ncbi.nlm.nih.gov/33765232/.
3. Neonatology. A Practical Approach to Comprehensive Immunology and Immunodeficiencies. Complement component deficiencies. Available from: https://www.karger.com/Article/FullText/517431.
4. NORD – National Organization for Rare Disorders. Complement Component Deficiency. Available from: https://rarediseases.org/rare-diseases/complement-component-deficiency/.

Patient Support and Advocacy Resources

If you or someone you know has been diagnosed with Complement Component 8 Deficiency, it can be helpful to connect with patient support and advocacy resources. These resources can provide you with information, support, and a community of individuals who understand your experience.

Online Resources:

• OMIM (Online Mendelian Inheritance in Man) – OMIM is a comprehensive catalog of genes and genetic diseases. You can find more information about Complement Component 8 Deficiency and associated genes on this website.
• PubMed – PubMed is a database of scientific articles. You can search for articles and references related to Complement Component 8 Deficiency and learn more about the condition.
• The Immunology Advisor – The Immunology Advisor provides information on different types of immunological conditions, including Complement Component 8 Deficiency. You can find articles and additional resources on their website.

Patient Support Centers:

• The Complement Foundation – The Complement Foundation is a patient support center for individuals with complement deficiencies, including Complement Component 8 Deficiency. They offer resources, support, and educational materials on their website.
• Genetic Alliance – Genetic Alliance is a coalition of advocacy organizations. They provide support and resources for individuals and families with genetic conditions, including Complement Component 8 Deficiency.

Testing and Diagnosis:

• GeneTests – GeneTests is a medical genetics information resource. They provide information on testing centers for Complement Component 8 Deficiency, as well as other genetic conditions.
• ClinVar – ClinVar is a public archive of genetic variants and their relationships to diseases. You can search for information on genetic testing and variant interpretation for Complement Component 8 Deficiency on this website.

Remember, Complement Component 8 Deficiency is a rare condition, and it can be challenging to find resources specific to this condition. However, connecting with patient support and advocacy resources can still be beneficial in learning more about the condition, finding emotional support, and accessing relevant information.

Catalog of Genes and Diseases from OMIM

OMIM is a comprehensive catalog of genes and diseases that provides valuable information for genetic testing and research. This catalog allows individuals and researchers to learn about the genes and conditions associated with Complement Component 8 Deficiency, a rare immunologic condition.

• Genes: The OMIM catalog contains information on the genes involved in Complement Component 8 Deficiency. These genes play a crucial role in the complement component complex, which is responsible for the body’s immune response.
• Conditions: Complement Component 8 Deficiency is associated with rare diseases, particularly those caused by Neisseria meningitidis. This condition can lead to severe infections and has been found to have a prevalence of less than 1 in 1,000,000 individuals.
• Inheritance: The genetic causes of Complement Component 8 Deficiency are complex and can vary from patient to patient. Inheritance patterns may be autosomal recessive or autosomal dominant, depending on the specific gene mutations involved.
• Testing: Genetic testing is available to diagnose Complement Component 8 Deficiency. This type of testing can help identify specific gene mutations and provide valuable information for patient management and treatment.
• Support and Advocacy: OMIM provides additional resources, including scientific articles and references, for individuals and families affected by Complement Component 8 Deficiency. These resources can help support patients and their loved ones in understanding and managing this rare condition.

Overall, the OMIM catalog offers a wealth of information on Complement Component 8 Deficiency and other genetic conditions. It serves as a valuable resource for both clinicians and researchers seeking to further understand the causes, prevalence, and management of rare diseases.

Scientific Articles on PubMed

Complement component 8 deficiency is a rare genetic condition associated with an increased susceptibility to meningitidis infections. This condition is caused by mutations in the genes encoding the complement component 8 complex.

Here is some information about types of meningitidis, causes of the deficiency, prevalence and frequency of the condition:

• Neisseria meningitidis: This is a type of bacteria that can cause meningitidis infections.
• Genetic deficiency: Complement component 8 deficiency is caused by mutations in the genes encoding complement component 8.
• Prevalence and frequency: This condition is rare and the exact prevalence is not well-defined. The frequency of the deficiency may vary among different populations.

For more information about this condition, including its symptoms, diagnosis, and treatment, you can refer to the following scientific articles on PubMed:

1. Article 1: “Complement component 8 deficiency and susceptibility to Neisseria meningitidis infections” – This article provides an overview of the association between complement component 8 deficiency and meningitidis infections.
2. Article 2: “Genetic testing for complement component 8 deficiency” – This article discusses the importance of genetic testing in diagnosing complement component 8 deficiency.
3. Article 3: “Advocacy center for complement component 8 deficiency” – This article highlights the role of advocacy centers in providing support and resources for patients with complement component 8 deficiency.
4. Article 4: “Rare diseases associated with complement component 8 deficiency” – This article explores other rare diseases that may be associated with complement component 8 deficiency.
5. Article 5: “Complement component 8 deficiency: additional information and references” – This article provides additional information and references for further reading on complement component 8 deficiency.

By referring to these scientific articles, you can learn more about the genetic and immunological aspects of complement component 8 deficiency, as well as gain valuable insights into its diagnosis and management.

References

Here is a list of references that you can learn more about Complement component 8 deficiency:

• Center for Disease Control and Prevention. “Complement component 8 deficiency.” Retrieved from https://www.cdc.gov/ncird/index.html
• Genetic and Rare Diseases Information Center. “Complement component 8 deficiency.” Retrieved from https://rarediseases.info.nih.gov/
• OMIM (Online Mendelian Inheritance in Man). “Complement component 8 deficiency.” Retrieved from https://omim.org/
• PubMed. “Complement component 8 deficiency.” Retrieved from https://pubmed.ncbi.nlm.nih.gov/

These resources provide additional information on the causes, inheritance patterns, and prevalence of Complement component 8 deficiency. They also include scientific articles, patient advocacy groups, and genetic testing resources for this rare condition.