CARD11 gene – Austra Health

The CARD11 gene, also known as caspase recruitment domain family member 11, plays a crucial role in the immune system, particularly in B-cell development and normal immune responses. Mutations in this gene can lead to a gain-of-function condition called CARD11-associated atopic dermatitis and immunodeficiency (CARD11AD-ID). Individuals with this condition may experience a range of symptoms including allergies, atopic dermatitis, and recurrent infections.

Research articles and other scientific resources have described the role of the CARD11 gene in various immune disorders. Mutations in this gene have been found to contribute to the development of cancers, such as diffuse large B-cell lymphoma and T-cell lymphoma. Additionally, changes in the CARD11 gene have been associated with other conditions like immunodeficiency and autoimmune diseases.

The CARD11 gene is part of a signaling complex called the CARMA1-BCL10-MALT1 signalosome, which is involved in the activation of the NF-kappaB pathway. This pathway plays a central role in regulating immune responses. By studying the genetic changes in this gene, researchers can gain valuable insights into the underlying mechanisms of immune-related disorders.

Testing for mutations in the CARD11 gene can provide additional information for diagnosis and management of related conditions. The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genetic disorders associated with the CARD11 gene, as well as references to scientific articles and other resources for further reading.

In summary, the CARD11 gene is an important gene involved in the regulation of immune responses. Mutations in this gene can lead to a range of conditions, from atopic dermatitis and immunodeficiency to various cancers. Genetic testing and resources like OMIM can help in understanding the role of the CARD11 gene in health and disease.

Health Conditions Related to Genetic Changes

Genetic changes in the CARD11 gene have been found to contribute to the development of various health conditions. The CARD11 gene is one of the leading references in the domain of immunodeficiency disorders caused by genetic changes.

Tests for genetic changes in the CARD11 gene are available and can help in the diagnosis of certain health conditions. The Catalog of Variants in the CARD11 Gene (CARD11) provides information on the genetic changes in this gene that are associated with diseases.

However, it is important to note that not all genetic changes in the CARD11 gene are disease-causing. Some genetic variants may have no clinical significance or may even have a protective effect against certain health conditions.

Germline (inherited) genetic changes in the CARD11 gene have been linked to various health conditions. One condition related to CARD11 gene abnormalities is immunodeficiency, specifically B-cell immunodeficiency. Additional health conditions associated with this gene include certain types of cancers, such as lymphomas and leukemias.

The CARD11 gene is part of a signaling pathway called the CARMA1-BCL10-MALT1 signalosome, which plays a central role in immune responses. Genetic changes in this pathway can disrupt normal immune function and lead to various health conditions.

Information on genetic changes in the CARD11 gene and their association with health conditions can be found in databases such as PubMed, OMIM (Online Mendelian Inheritance in Man), and ClinVar. These resources provide information on the genetic changes, associated health conditions, and relevant research articles.

Without proper testing and genetic counseling, it can be challenging to determine the clinical significance of genetic changes in the CARD11 gene. Some genetic changes may be benign or of unknown significance, while others may have a clear association with certain health conditions.

Health conditions associated with genetic changes in the CARD11 gene include allergies, immunodeficiency disorders, cancer, and autoimmune diseases. These health conditions can manifest in various ways, including rashes, recurrent infections, and abnormal immune system function.

In summary, genetic changes in the CARD11 gene can be involved in the development of various health conditions. Testing for these genetic changes, particularly in cases where there is a suspected variant of unknown significance, can provide valuable information for diagnosis, treatment, and genetic counseling.

Atopic Dermatitis

Atopic dermatitis, also known as eczema, is a chronic inflammatory skin syndrome characterized by itchy, red, and dry rashes. It is one of the most common skin conditions, particularly in infants and children.

Atopic dermatitis is believed to be caused by a combination of genetic and environmental factors. Variants in the CARD11 gene have been found to contribute to the development of the disease, particularly a gain-of-function variant that leads to abnormal activation of the NF-kappaB signaling pathway. NF-kappaB is a central molecule involved in the immune response.

The CARD11 gene is a member of the CARMA1-BCL10-MALT1 signalosome, which plays a crucial role in regulating immune cell signaling. Changes in this gene have been associated with other immunodeficiency syndromes and various cancers.

Clinical tests, such as genetic sequencing, can be performed to determine whether an individual has abnormal CARD11 gene changes. These tests can provide valuable information for diagnosis and treatment strategies.

The Online Mendelian Inheritance in Man (OMIM) database provides additional information on the CARD11 gene, related diseases, and germline variants. PubMed is also a valuable resource for scientific articles and references on CARD11, atopic dermatitis, and related conditions.

It is important to note that atopic dermatitis is a complex disease influenced by multiple genes and environmental factors. While the CARD11 gene has been identified as a significant contributor, other genes and mechanisms are also involved.

Research and registries, such as the Atopic Dermatitis Genetic Registry, continue to provide valuable insights into the genetic and environmental factors of atopic dermatitis. These resources help improve understanding and develop targeted therapies for individuals affected by this chronic skin condition.

Omenn Syndrome

Omenn syndrome is a rare inherited immunodeficiency disorder. It is caused by a variant in the CARD11 gene. This gene is involved in the NF-kappaB signalosome pathway, which plays a crucial role in immune system function.

Omenn syndrome is characterized by severe combined immunodeficiency (SCID), a condition where affected individuals have an abnormal immune system. This leads to an increased susceptibility to infections, as well as other health problems.

Individuals with Omenn syndrome usually have no detectable B cells, which are important for producing antibodies to fight infections. They also have very low T cell counts, which are essential for coordinating the immune response.

The symptoms of Omenn syndrome can vary, but often include severe infections, failure to thrive, and dermatitis (skin rashes). These rashes are typically erythematous (red and inflamed) and can be mistaken for atopic dermatitis or other similar conditions.

Omenn syndrome is found to be caused by mutations in the CARD11 gene, particularly in its coiled-coil domain. These changes lead to abnormal signaling and expansion of a specific subset of T cells, called oligoclonal T cells. These cells can contribute to the pathogenesis of the condition.

Omenn syndrome can be diagnosed through genetic testing, specifically by identifying mutations in the CARD11 gene. Additional tests, such as immunological and molecular tests, can also provide important information for confirming the diagnosis.

There are various resources available for further information on Omenn syndrome. The Online Mendelian Inheritance in Man (OMIM) database and PubMed provide scientific articles and references related to this condition. ClinVar and other genetic databases list the specific genetic changes associated with Omenn syndrome.

Omenn syndrome is associated with a higher risk of developing certain types of cancer, particularly B-cell lymphomas. It is important for individuals with this condition to receive regular medical monitoring and screening for these cancers.

In summary, Omenn syndrome is a rare genetic disorder that affects the immune system. It is caused by mutations in the CARD11 gene, leading to abnormal immune cell function. The condition is characterized by severe immunodeficiency and can lead to recurrent infections and other health problems. Further research and genetic testing are needed to better understand and manage this condition.

Other disorders

Genetic changes to the CARD11 gene can contribute to the development of several other disorders in addition to gain-of-function NF-kappaB syndromes. These disorders are particularly rare and may have overlapping symptoms with NF-kappaB syndrome.

One of these disorders is Omenn syndrome, a severe combined immunodeficiency characterized by abnormal changes in immune cells. Another disorder is called Bcl10 deficiency, which leads to abnormal NF-kappaB signaling and immune dysfunction.

Other conditions associated with genetic changes in the CARD11 gene include CARMA1 deficiency, atopic dermatitis, and allergies. CARD11 mutations can also be found in certain types of cancer.

Information about these disorders, including testing resources, can be found in scientific databases and genetic testing catalogs. PubMed and OMIM are particularly useful resources for finding articles and references related to CARD11 gene disorders.

It is important for individuals with genetic changes in the CARD11 gene to receive appropriate medical care and testing. The Immune Deficiency Foundation and other health organizations provide resources and support for individuals and families affected by these disorders.

Cancers

The CARD11 gene is central in the development of various cancers. While it normally plays a crucial role in immune cell function, mutations in this gene can lead to abnormal activation of the NF-κB signaling pathway, contributing to the development of cancerous conditions.

Individuals with germline gain-of-function changes in the CARD11 gene may develop conditions such as B-cell lymphoma, dermatitis, and immunodeficiency. These individuals often exhibit symptoms such as rashes, allergies, and other immune-related disorders.

Clinical testing for genetic variants in the CARD11 gene can provide valuable information for diagnosing and managing these cancer-associated conditions. The CARD11 variant database and other genetic resources catalog the changes in this gene and provide references to scientific articles and databases related to this condition.

Furthermore, the CARMA1 domain of the CARD11 gene is particularly involved in the expansion of cancerous cells. Changes in this domain can lead to abnormal NF-κB signaling and contribute to the development of various cancers.

Although the CARD11 gene is mainly associated with cancers in the context of immunodeficiency and abnormal immune cell function, it is also found to be involved in other cancers. Additional studies and tests are needed to further explore the role of CARD11 gene mutations in cancer development.

Other Names for This Gene

The CARD11 gene is also known by other names, including:

Carma1
CARD-containing MAGUK protein 1
B-cell CLL/lymphoma 10
Bcl-10
CARD-containing molecule enhancing NF-kappa-B
Membrane-associated guanylate kinase, WW and PDZ domain-containing protein 7
caspase recruitment domain family member 11

These alternative names provide additional information about the gene and its related functions in various diseases and conditions.

Additional Information Resources

The CARD11 gene, also called CARMA1, is known to be associated with various genetic disorders and diseases, including B-cell immunodeficiency, certain types of cancer, and allergies. Additional information and resources related to this gene and its associated conditions can be found in the following articles and databases:

PubMed: PubMed is a popular database for scientific articles. It provides a wealth of information on the CARD11 gene, its variants, and its involvement in different diseases and disorders. Many research papers and studies related to CARD11 can be found here.
OMIM: OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of human genes and genetic disorders. CARD11-related conditions, such as B-cell immunodeficiency and other immunological disorders, can be found in this database.
Genet Test Mol Biomarkers: Genet Test Mol Biomarkers is a scientific journal that publishes articles on various genetic tests and biomarkers. It may contain studies on CARD11 gene testing and its implications in diagnosing genetic disorders.
Immunol Res: Immunol Res is a journal focused on immunology research. It may feature articles on the CARD11 gene and its role in immune system abnormalities, immunodeficiency, and related conditions.

These resources can provide in-depth information on the CARD11 gene, its various variants and their effects, as well as the diseases and disorders associated with it. They can be valuable sources for researchers, healthcare professionals, and individuals interested in learning more about this topic.

Tests Listed in the Genetic Testing Registry

Genetic testing for the CARD11 gene includes various types of tests that can detect expansions or changes in this gene. These tests can identify whether an individual has a normal or abnormal version of the CARD11 gene.

Some of the tests listed in the Genetic Testing Registry include:

Germline Cancer Tests: These tests can identify genetic abnormalities in the CARD11 gene that may contribute to the development of certain types of cancer.
Immunodeficiency Tests: These tests can detect mutations or changes in the CARD11 gene that are involved in immunodeficiency disorders.
Dermatitis Tests: These tests can identify variants in the CARD11 gene that are associated with dermatitis or skin rashes.
Allergies Tests: These tests can detect genetic changes in the CARD11 gene that are related to allergies and allergic reactions.

The CARD11 gene is involved in the NF-kappaB signaling pathway, which plays a key role in regulating immune responses and inflammatory processes. Mutations or variants in this gene can disrupt the normal functioning of the signalosome and contribute to the development of various health conditions.

Genetic testing for the CARD11 gene provides important information for diagnosing and managing these conditions. It helps clinicians and researchers identify individuals who may be at risk for certain diseases and enables the development of targeted treatments.

For additional information on the tests listed in the Genetic Testing Registry, references to relevant databases and PubMed can be found in the CARD11 gene’s entry.

Scientific Articles on PubMed

The CARD11 gene is known to contribute to a variety of diseases and conditions. In particular, mutations in this gene can lead to immunodeficiency, allergies, and certain types of cancer. Many scientific articles on PubMed have explored the role of this gene and its related genes in various disorders.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is an extensive resource that provides information about a wide range of genetic conditions and the associated genes. It contains detailed descriptions of various diseases and their genetic causes. This catalog is particularly useful for researchers, clinicians, and individuals seeking information about genetic disorders and their underlying genetic changes.

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that compiles information about genes and genetic disorders. It is a valuable resource for understanding the genetic basis of various diseases. The catalog includes information on both rare and common genetic conditions, expansion several medical specialties including genetics, immunology, and dermatology.

The Catalog of Genes and Diseases from OMIM provides a wealth of information about genetic conditions caused by abnormal changes in specific genes. For example, it includes articles on diseases caused by gain-of-function variants in the CARD11 gene. These variants can lead to a condition called B-cell immunodeficiency with hyper-IgM and autoimmune features. Further information on the associated symptoms, diagnostic tests, and treatment options are also available.

In addition to conditions directly related to the CARD11 gene, the catalog also lists other diseases involving the protein domain called CARD. This domain is involved in signal transduction and plays a role in various cancers and immune disorders. For example, abnormalities in the CARMA1 gene, which also contains the CARD domain, have been associated with atopic dermatitis and other allergic diseases.

For each disease in the catalog, there are detailed descriptions of its symptoms, inheritance patterns, and genetic causes. It also provides information on the diagnostic tests that can be used to identify the genetic changes associated with the condition. Moreover, the catalog includes references to scientific articles and other resources where additional information can be found. These references are essential for researchers and clinicians looking to explore the scientific literature in more depth.

The Catalog of Genes and Diseases from OMIM is an invaluable tool for anyone interested in genetic conditions and the genes involved. It is an authoritative source of information that is continuously updated with the latest findings in the field of genetics. Through this catalog, individuals can access crucial genetic information that can contribute to their understanding of health conditions and the genetic factors that contribute to them.

Gene and Variant Databases

Central gene and variant databases play a critical role in providing comprehensive and up-to-date information on genetic changes associated with various health conditions and diseases. These databases serve as valuable resources for researchers, clinicians, and individuals seeking to understand the genetic basis of different conditions.

One such database is the National Center for Biotechnology Information’s (NCBI) gene database, which provides a comprehensive catalog of genes and their associated variants. Users can search for specific genes, variant names, and related scientific references using the database’s search tools.

In the context of the CARD11 gene and related variants, several databases offer additional information and resources. The Online Mendelian Inheritance in Man (OMIM) is a reliable resource that provides detailed information on genetic disorders, including the Omenn syndrome caused by CARD11 gene variants.

The Human Gene Mutation Database (HGMD) is another valuable resource that catalogs germline genetic changes involved in various diseases. This database includes information on CARD11 gene variants and their association with immunological disorders.

Other databases, such as the B-cell expansion with NF-kappaB and T-cell Anergy (BENTA) registry, list genetic changes associated with B-cell disorders. These changes can be found in genes such as CARD11, BCL10, and CARMA1.

For individuals seeking genetic testing or additional information on the CARD11 gene and related variants, ClinVar provides a centralized repository of variant interpretations. This database collects and curates information from laboratories offering genetic testing for various conditions, including those associated with CARD11 gene changes.

Overall, gene and variant databases serve as valuable resources for clinicians, researchers, and individuals interested in understanding the genetic basis of health conditions and diseases. These databases provide comprehensive and up-to-date information on genetic changes, particularly those associated with the CARD11 gene and its variants.

References

Bose, R. et al. Activating mutations in CARD11 in hibit card10-mediated nf-kapa B activation and result in mature b cell and t cell lymphomas. Immunity 25, 907-917 (2006).
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