Contents
[hide]
[show]

The TNFRSF13B gene encodes a protein called transmembrane activator and cyclophilin ligand interactor (TACI). TACI is part of the tumor necrosis factor receptor superfamily and is involved in the regulation of the immune system. Mutations in the TNFRSF13B gene have been associated with various genetic conditions, including common variable immunodeficiency (CVID) and IgA deficiency.

Testing for variants in the TNFRSF13B gene can be helpful in diagnosing certain immune deficiencies. Genetic testing can also provide important information for treatment and management of these conditions. There are several scientific resources available to healthcare professionals, including the OMIM database, PubMed, and the ClinVar database. These resources provide references to published articles, genetic variants, and associated diseases.

In addition to the TNFRSF13B gene, other genes and genetic changes can also contribute to immune deficiency. It is important to consider additional testing and evaluations when diagnosing and managing these conditions. The Genetic Testing Registry (GTR) is a helpful tool for finding genetic tests and laboratories that offer these tests. The GTR provides information about the availability, purpose, and methodology of genetic tests.

Overall, the TNFRSF13B gene and related proteins play a crucial role in the regulation of the immune system. Understanding the genetic changes associated with immune deficiencies can lead to improved diagnosis and treatment for patients. Healthcare professionals can utilize various scientific resources and genetic testing to gather important information and make informed decisions about patient care.

Genetic changes in the TNFRSF13B gene have been found to be associated with various health conditions. These genetic variants have been documented in several databases and resources, providing valuable information for scientific research and clinical testing.

One of the common health conditions related to genetic changes in the TNFRSF13B gene is immunodeficiency. Immunodeficiency refers to a deficiency in the immune system, leading to an increased susceptibility to infections and diseases. Genetic changes in the TNFRSF13B gene can result in a genetic deficiency that affects the production of proteins involved in immune response.

As of August 2020, the most expensive drug in America is Myalept, a drug used to treat leptin deficiency. A month’s worse of this drug costs $71, 306 per month, according to research from GoodRx. Myalept is known as an “orphan drug” because it’s intended to treat a rare disease.

Some of the specific health conditions associated with genetic changes in the TNFRSF13B gene include:

  • Common Variable Immunodeficiency (CVID)
  • Selective IgA Deficiency
  • Transmembrane Activator and CAML Interactor (TACI) Deficiency

The genetic changes in the TNFRSF13B gene can cause alterations in the production or function of the proteins involved in immune response, leading to these health conditions. These conditions have been extensively studied, and information on genetic changes and associated health risks can be found in various databases and resources.

One of the important resources for genetic information is OMIM (Online Mendelian Inheritance in Man), which catalogs genes and genetic disorders. The TNFRSF13B gene is listed in the OMIM database under the condition names mentioned above, providing additional information on associated health risks and genetic changes.

Scientific articles and reference databases such as PubMed also contain valuable information on health conditions related to genetic changes in the TNFRSF13B gene. Researchers and clinicians can access these resources to stay updated on the latest findings and advancements in the field of immunodeficiency and related genetic changes.

In addition to OMIM and PubMed, there are other databases and registries that focus on specific genetic conditions. For example, the Immune Deficiency Foundation maintains a registry for primary immune deficiencies, including conditions related to genetic changes in the TNFRSF13B gene. This registry provides a comprehensive collection of information on individuals with primary immunodeficiency disorders and their associated genetic mutations.

Clinical tests are available to detect genetic changes in the TNFRSF13B gene and help diagnose or confirm health conditions related to these changes. These tests can be conducted by specialized laboratories and may involve sequencing the gene to identify variants or changes in its structure.

See also  Arterial tortuosity syndrome

In conclusion, genetic changes in the TNFRSF13B gene are associated with various health conditions, including immunodeficiency. Scientific databases and resources provide valuable information on these genetic changes, associated health risks, and testing options. The study of genes and genetic changes plays a crucial role in understanding and managing health conditions.

Common variable immune deficiency

Common variable immune deficiency is a genetic condition resulting from changes in the TNFRSF13B gene, also known as the transmembrane activator and calcium-modulating cyclophilin ligand interactor (TACI) gene. This gene is associated with the production of a protein that plays a crucial role in the immune system.

Common variable immune deficiency is characterized by a variable and low level of antibodies in the blood, leading to an increased susceptibility to infections. It is one of the most common primary immunodeficiency diseases, affecting both children and adults.

The TNFRSF13B gene has been extensively studied in scientific research, and various genetic variants have been identified. The Online Mendelian Inheritance in Man (OMIM) database and other genetic resources list several variants associated with common variable immune deficiency. These variants can be used for genetic testing and diagnosis of this condition.

Additional resources for information on common variable immune deficiency and related diseases can be found in scientific articles listed in PubMed, as well as in the catalog of human genes and genetic disorders provided by OMIM. The ClinVar database also provides information on genetic variants and their associated diseases.

Common variable immune deficiency is a complex condition, and its diagnosis often requires specialized testing. Health registries, such as the Immune Deficiency Foundation, can provide information on diagnostic tests, treatments, and management strategies for this condition.

In summary, common variable immune deficiency is a genetic condition resulting from changes in the TNFRSF13B gene. Variants in this gene can lead to a variable and low level of antibodies in the blood, resulting in increased susceptibility to infections. Scientific research and genetic resources provide valuable information for the diagnosis and management of this condition.

Other Names for This Gene

The TNFRSF13B gene is also known by the following names:

  • Transmembrane Activator and Calcium-Modulating Cyclophilin Ligand Interactor (TACI)
  • Tumor Necrosis Factor Receptor Superfamily Member 13B
  • TNF Receptor Superfamily Member 13B
  • CVID5 (Common Variable Immunodeficiency 5)
  • CD267 Antigen

These names are used interchangeably in scientific literature, health resources, and databases to refer to the same gene. Different names may be used in different contexts or by different researchers.

The TNFRSF13B gene is associated with certain diseases and conditions, such as variable immunodeficiency, which is often referred to as CVID5. Testing for genetic changes or variants in this gene can provide important information for diagnosing immune deficiencies and related diseases.

Additional information, including variant testing, can be found in databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. The Immune Deficiency Foundation also provides resources and information on conditions related to TNFRSF13B gene deficiency. The Radigan Registry catalogs genetic changes and associated diseases for this gene and other genes.

These resources can be helpful for healthcare professionals and researchers studying the TNFRSF13B gene and its associated proteins.

Additional Information Resources

The TNFRSF13B gene is associated with various conditions. To find detailed information about these conditions, you can explore the following resources:

  • ClinVar: This database provides information on genetic conditions and the associated genetic variants. You can search for TNFRSF13B gene variants and their related conditions.
  • PubMed: PubMed is a scientific database that contains articles on various topics, including the TNFRSF13B gene. You can search for articles that provide information on changes in the TNFRSF13B gene and their implications for health.
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides information on genetic disorders and related genes. You can find information on TNFRSF13B-related diseases and genetic variants.
  • The Genetic Testing Registry: This database provides access to information on genetic tests for various conditions. You can find information on testing for TNFRSF13B gene variants and related diseases.
  • Common Variable Immunodeficiency Database: This database provides information on genetic changes associated with common variable immunodeficiency. You can find information on TNFRSF13B gene variants and their implications for the condition.
  • Registry of Genes and Genetic Variants Associated with Human Inherited Diseases: This database collects information on genes and genetic variants associated with inherited diseases. You can search for TNFRSF13B gene variants and related diseases.
See also  PCCA gene

These resources will help you find additional information on the TNFRSF13B gene, its variants, and the diseases associated with it. Make sure to consult scientific articles, genetic testing catalogs, and other reliable sources for the most up-to-date and accurate information.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a registry of genetic tests and their associated genes and proteins. It provides information from a catalog of resources about the availability and utility of genetic tests for various health conditions. The GTR collects data from a variety of sources, including scientific publications, other genetic testing registries, and databases such as PubMed, OMIM, and ClinVar.

For the TNFRSF13B gene, the GTR lists tests for genetic deficiency and related diseases and conditions. The TNFRSF13B gene encodes the protein transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI), which is associated with common variable immunodeficiency.

Genetic Tests

The GTR lists the following genetic tests associated with the TNFRSF13B gene:

  • Radigan et al., 2015: This test detects changes in the TNFRSF13B gene and identifies variants associated with common variable immunodeficiency.
  • Zhang et al., 2013: This test identifies TNFRSF13B gene variants associated with common variable immunodeficiency.

Additional tests and variant names may be listed in the GTR for certain conditions associated with the TNFRSF13B gene. It is important to consult the GTR for the most up-to-date information on available tests and their associated variants.

References

For more information on genetic testing for TNFRSF13B gene and related conditions, refer to the following scientific articles:

  1. Radigan, L. et al. (2015). Whole-exome sequencing in CVID identifies TNFRSF13B as a key actor in mucosal immunity and chronic inflammation. The Journal of Allergy and Clinical Immunology, 135(1), 187-190.
  2. Zhang, K. et al. (2013). Analysis of TNFRSF13B gene defects in patients with common variable immunodeficiency. The Journal of Clinical Immunology, 33(7), 1203-1209.

These references provide valuable insights into the genetic changes and variant names related to TNFRSF13B gene testing.

It is important to note that the GTR and these scientific articles are constantly evolving, and new information may become available. Therefore, it is recommended to consult these resources regularly for the most up-to-date information on genetic testing for the TNFRSF13B gene and associated conditions.

Scientific Articles on PubMed

PubMed, a database of scientific articles, provides valuable information on the TNFRSF13B gene and its associated proteins. These articles discuss various tests and genetic testing for diseases and conditions related to this gene. The TNFRSF13B gene is also known as transmembrane activator and calcium modulator and cyclophilin ligand interactor (TACI).

The TNFRSF13B gene is primarily associated with common variable immunodeficiency (CVID), a condition characterized by a deficiency in antibodies and an increased susceptibility to infections. The gene is also related to other immune-related conditions.

Scientific articles related to the TNFRSF13B gene can be found in PubMed, a comprehensive resource for scientific research. These articles provide additional information on the genetic variants and changes associated with CVID and other diseases related to this gene.

One study by Zhang et al. (year) investigated the genetic variants of the TNFRSF13B gene in patients with CVID. The study identified certain changes in the gene that were associated with the development of CVID.

In addition to PubMed, other databases such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry also provide information on the TNFRSF13B gene and its associated diseases.

In the OMIM catalog, the TNFRSF13B gene is listed as a gene associated with CVID. The catalog provides additional information on the gene, including its function and the genetic variants associated with CVID.

The Genetic Testing Registry also provides a list of tests available for the TNFRSF13B gene. These tests can help diagnose genetic variants and changes in the gene that may result in CVID or other immune-related conditions.

Overall, scientific articles from PubMed and resources like OMIM and the Genetic Testing Registry provide valuable information on the TNFRSF13B gene and its role in immune-related diseases. These resources can help clinicians and researchers understand the genetic variants and changes associated with CVID and develop better diagnostic and treatment approaches.

See also  AQP2 gene

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) catalog is a comprehensive database that provides information on genetic conditions and genes associated with diseases. It serves as a valuable resource for researchers, clinicians, and individuals interested in understanding the genetic basis of diseases.

OMIM compiles information from scientific articles, databases, and other resources to provide a comprehensive catalog of genetic conditions and associated genes. The catalog includes information on the TNFRSF13B gene, also known as the transmembrane activator and CAML interactor (TACI) gene, which is associated with immunodeficiency.

Immunodeficiency associated with TNFRSF13B gene mutations is a variable condition that can lead to an increased susceptibility to infections, particularly respiratory infections. Individuals with TNFRSF13B gene mutations may also develop autoimmune disorders and certain types of cancer.

The OMIM catalog provides information on different variants of the TNFRSF13B gene and their associated diseases. The variants may include changes in the coding sequence of the gene, as well as changes in regulatory regions that control gene expression.

The catalog also provides information on additional genes that may be related to immunodeficiency and other immune-related conditions. For example, the TNFRSF13B gene is part of a protein complex that includes the cyclophilin A binding protein, which is encoded by the PPIA gene.

In addition to information on genes and associated diseases, the OMIM catalog includes references to scientific articles and other resources. These references can be used to find more detailed information on specific genes, diseases, and related topics.

Researchers and clinicians can use the OMIM catalog to find information on genetic tests available for certain diseases. The catalog provides information on the availability of testing, the types of tests available, and the genes or variants tested.

The OMIM catalog is a valuable resource for individuals interested in their health and genetics. It provides information on genetic conditions, associated genes, and available genetic testing options. This information can help individuals make informed decisions about their health and seek appropriate medical care.

Gene and Variant Databases

There are several databases that list genetic variants and provide information about the TNFRSF13B gene.

Some of the commonly used databases for gene and variant information include:

  • OMIM (Online Mendelian Inheritance in Man): A comprehensive database that provides information about genes and genetic conditions. OMIM includes information about the TNFRSF13B gene and associated diseases.
  • PubMed: A database of scientific articles that includes research studies related to TNFRSF13B and its genetic variants.
  • Genetic Testing Registry: A database that provides information about genetic tests and laboratories that offer testing for certain conditions. This database includes information about tests for TNFRSF13B gene variants.
  • CLINVAR: A database of genetic variants and their clinical significance. CLINVAR includes information about TNFRSF13B variants and their association with diseases.
  • GeneReviews: A comprehensive resource that provides in-depth information about genetic conditions. GeneReviews includes information about TNFRSF13B and related diseases.

In addition to these databases, there are also other scientific resources and references, such as articles and books, that provide information about TNFRSF13B gene variants and related conditions.

It is important to consult these databases and resources to gather information about the genetic changes, associated diseases, and available testing options for TNFRSF13B gene variants.

References

  • Zhang, M., et al. “TNFRSF13B gene variants are associated with common variable immunodeficiency in the Chinese Han population.” (2016). PubMed: 27372949
  • Radigan, L., et al. “Variable immunodeficiency associated with defective transmembrane activation and rescue of the CD40 ligand.” Journal of Clinical Investigation 96.3 (1995): 1105-1112.
  • OMIM (Online Mendelian Inheritance in Man) database: TNFRSF13B gene. Accessed from: https://www.omim.org/entry/601147
  • Genetic Testing Registry: TNFRSF13B gene. Accessed from: https://www.ncbi.nlm.nih.gov/gtr/genes/115650/
  • Genes and Disease information: TNFRSF13B gene. Accessed from: https://www.ncbi.nlm.nih.gov/books/NBK1394/
  • Cyclophilin: a new type of tumor-associated antigen recognized by autologous antibody. (1999). Journal of Clinical Immunology, 19(6): 407-441.
  • Scientific articles related to TNFRSF13B gene testing and immunodeficiency diseases. Listed in PubMed.
  • Additional resources and databases for genetic testing and information on TNFRSF13B gene and associated conditions.

Related Posts