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The CIITA gene is involved in the regulation of immune responses and plays a critical role in the immune system. It encodes a class II major histocompatibility complex (MHC) transactivator protein. Mutations in this gene can lead to various autoimmune conditions and diseases.

CIITA, also known as MHC class II transactivator or bare lymphocyte syndrome (BLS)-associated factor, is responsible for activating MHC class II gene expression. Without CIITA, the immune system would not be able to recognize and respond to foreign substances, such as bacteria, viruses, and fungi.

The CIITA gene is included in various genetic testing panels for autoimmune diseases and immune system disorders. Genetic testing can help identify mutations or changes in the CIITA gene that may be associated with certain conditions. Testing for CIITA gene mutations can be helpful for diagnosing health conditions, such as autoimmune diseases, Addison’s disease, or the type II bare lymphocyte syndrome.

Information on the CIITA gene and related conditions can be found in various resources and databases, such as OMIM (Online Mendelian Inheritance in Man) and the NCBI Gene database. These resources provide scientific articles, citations, and references on CIITA gene-related research and information. They also list additional genes and proteins involved in immune system regulation.

For more information on the CIITA gene and related conditions, one can consult the OMIM catalog, PubMed articles, and genetic testing databases. These resources offer a comprehensive collection of information and scientific studies on the CIITA gene, its variants, and their implications for health and disease.

The CIITA gene, also known as the MHC class II transactivator, plays a crucial role in the immune system. Genetic changes in this gene can lead to various health conditions and diseases.

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One way to explore the health conditions related to genetic changes in the CIITA gene is by referring to catalogs and databases that compile scientific articles and references on this gene. PubMed is a popular resource that provides access to a vast collection of articles on genetic diseases.

By searching for “CIITA gene” in PubMed, you can find articles that discuss the implications of genetic changes in this gene for autoimmune diseases, immune deficiencies, and other conditions involving the MHC class II complex. These articles may provide information on the involvement of other genes and proteins, as well as potential diagnostic tests and treatments.

In addition to PubMed, resources such as the Online Mendelian Inheritance in Man (OMIM) database and the NIH Genetic Testing Registry (GTR) can also be valuable for gathering information on specific health conditions related to genetic changes in the CIITA gene.

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

  • Autoimmune diseases: Genetic variants in CIITA can affect the expression of MHC class II proteins, leading to abnormal immune responses and the development of autoimmune diseases such as rheumatoid arthritis and multiple sclerosis.
  • Immune deficiencies: Changes in the CIITA gene can impair the production or function of MHC class II proteins, resulting in immune deficiencies that make individuals more susceptible to infections.
  • Lymphocyte dysfunction: CIITA gene mutations can disrupt the normal functioning of lymphocytes, a type of white blood cell involved in immune responses.
  • Addison’s disease: Some studies suggest that genetic variants in the CIITA gene may be associated with an increased risk of Addison’s disease, a disorder affecting the adrenal glands.

Further research and genetic testing are necessary to fully understand the role of genetic changes in the CIITA gene and their implications for health conditions. However, the existing scientific literature provides valuable insights into the potential connections between the CIITA gene and various diseases.

It is important to consult with healthcare professionals and genetic counselors for comprehensive evaluation, diagnosis, and management of health conditions related to genetic changes in the CIITA gene or other genes of interest. Genetic testing can provide additional information to support clinical decision-making and personalized healthcare.

Bare lymphocyte syndrome type II

Bare lymphocyte syndrome type II, also known as bare lymphocyte syndrome type 2 (OMIM: 209920), is an autoimmune disease caused by genetic changes in the CIITA (class II major histocompatibility complex transactivator) gene. It is listed in the OMIM database as an autoimmune disease. Bare lymphocyte syndrome type II affects the immune system’s ability to recognize and turn off immune responses against the body’s own tissues. This can result in various autoimmune conditions. The disease is also sometimes referred to as Addison disease, as it can cause changes in the adrenal glands that result in low levels of certain hormones.

See also  Genetic Conditions I

The CIITA gene is involved in producing proteins that are responsible for the expression of class II major histocompatibility complex (MHC) genes. These genes play a crucial role in the immune system by helping the body recognize and respond to foreign molecules, such as peptides derived from bacteria, fungi, or other pathogens. The CIITA gene provides instructions for making a protein that acts as a transcription factor, turning on the expression of MHC class II genes. Without the normal function of CIITA, the body’s immune system cannot properly recognize and respond to threats, leading to immune deficiency.

The diagnosis of bare lymphocyte syndrome type II can be confirmed through genetic testing. There are several genetic tests available that can identify changes in the CIITA gene associated with the disease. These tests can be ordered through specialized genetic testing laboratories or through healthcare providers. Further information on the testing options can be found in resources such as the OMIM database, PubMed, and other scientific journals and articles related to the genetic testing of CIITA and the associated diseases. The Genetic Testing Registry is also a valuable resource for finding more information on available tests for bare lymphocyte syndrome type II.

In addition to genetic testing, there are also other tests that can help diagnose and monitor bare lymphocyte syndrome type II. These tests may include immunological tests, such as measurement of MHC class II molecules on lymphocytes. These tests can provide additional information on the immune status and function in individuals with the disease.

For healthcare providers and individuals seeking more information on the genetics of bare lymphocyte syndrome type II, the OMIM database, PubMed, and other scientific databases and catalogues are valuable resources. These resources can provide detailed information on the genes, genetic changes, associated diseases, and conditions related to bare lymphocyte syndrome type II. Additional recommendations and information on testing for the genetic condition can also be obtained from healthcare professionals and genetic counselors.

Autoimmune Addison disease

Autoimmune Addison disease is a rare autoimmune disorder that affects the adrenal glands. The condition is characterized by the destruction of the adrenal cortex, leading to a deficiency in cortisol and aldosterone production.

The CIITA gene, also known as the “MHC class II transactivator,” is involved in the regulation of the immune response. Genetic changes in this gene have been found to be associated with autoimmune diseases such as Addison disease.

In autoimmune Addison disease, the immune system mistakenly recognizes the adrenal cortex as foreign and launches an immune response against it. This results in the destruction of the adrenal cortex and a subsequent deficiency in cortisol and aldosterone production.

Testing for genetic changes in the CIITA gene can be helpful in diagnosing autoimmune Addison disease. Several resources, such as OMIM, PubMed, and scientific databases, provide information on genetic variants and their association with autoimmune diseases.

In addition to genetic testing, other tests, such as antibody testing and lymphocyte proliferation assays, can also be used to aid in the diagnosis of autoimmune Addison disease.

References:

  • Article on “Autoimmune Addison disease” in OMIM database
  • Scientific articles on autoimmune diseases and genes involved in their development
  • Health resources on Addison disease and related conditions

Other Names for This Gene

The CIITA gene is also known by the following names:

  • Bare Lymphocyte Syndrome Type I, Complementation Group A
  • Bare Lymphocyte Syndrome, Type II
  • BLS1A
  • C2TA
  • CIITAIV
  • Class II Transactivator
  • Class II Transactivator, Variant
  • MHC Class II Transactivator
  • MHC2TA
  • PSF
  • Regulatory Factor X, 5 (Influences HLA Class II Expression)
  • RF-X, 5
  • X-box Binding Protein 1
  • X2BP

These names reflect the different roles and conditions related to the CIITA gene. This gene has been found to be involved in the regulation of immunity and is particularly important in the transcriptional activation of major histocompatibility complex class II (MHC II) genes. Additionally, mutations or changes in this gene have been associated with various autoimmune diseases, such as Addison disease and type I diabetes.

For more scientific information on the CIITA gene, you can refer to the following resources:

  • The OMIM database provides additional information on genetic conditions and diseases associated with CIITA.
  • The PubMed database contains articles and references related to CIITA and its role in immunity.

These databases and resources can be useful for further research, testing, or citation in scientific articles.

Additional Information Resources

The CIITA gene is involved in a rare genetic syndrome called bare lymphocyte syndrome type II. This gene encodes for the MHC class II transactivator, which is responsible for turning on genes involved in the immune response.

See also  HPD gene

If you have found this article on CIITA interesting and want to learn more about this syndrome, there are several additional resources available:

  • Online Databases: OMIM (Online Mendelian Inheritance in Man) provides an extensive catalog of genetic conditions and their related genes. You can search for CIITA and find more information on bare lymphocyte syndrome type II.
  • Scientific Publications: PubMed is a database of scientific articles and references. Searching for CIITA or bare lymphocyte syndrome type II will yield scientific papers and studies on this topic.
  • Health Registries: Health registries collect information on patients with specific conditions. You may find a registry for bare lymphocyte syndrome type II that provides additional information and resources.
  • Genetic Testing: Genetic testing labs offer tests for various genetic conditions. You can inquire if they provide testing for CIITA gene changes or variants related to bare lymphocyte syndrome type II.

These resources will help you recognize the symptoms of the syndrome, understand the genetic and molecular mechanisms involved, and find support and further information about bare lymphocyte syndrome type II.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a catalog of genetic tests for the CIITA gene. CIITA, also known as the class II transactivator gene, is involved in the immune system’s recognition of foreign peptides and plays a role in autoimmune diseases. Variants in the CIITA gene have been found to be associated with a complex syndrome including Addison disease and bare lymphocyte syndrome.

The GTR lists the following tests for the CIITA gene:

  • Type II bare lymphocyte syndrome
  • CIITA gene variant testing
  • Genetic testing for autoimmune diseases

These tests provide information on changes in the CIITA gene and can help diagnose and classify conditions related to autoimmune diseases. The GTR includes references to scientific articles, OMIM entries, and other resources to further explore genetic testing and related information. This information can be useful for healthcare professionals and individuals interested in genetic testing for CIITA gene variants and related diseases.

It is important to note that the GTR is continuously updated as new tests and information become available. Therefore, it is recommended to regularly consult the GTR for the most up-to-date and comprehensive information on genetic testing for the CIITA gene.

Scientific Articles on PubMed

The CIITA gene, also known as the class II transactivator, is involved in the immune response and plays a crucial role in the recognition of foreign peptides by immune cells. Information from scientific articles on PubMed has provided valuable insights into the genetic changes and variant forms of the CIITA gene.

Studies have found that mutations in the CIITA gene can lead to various autoimmune diseases, such as bare lymphocyte syndrome and Addison’s disease syndrome. Testing for CIITA gene variants is often done to diagnose these conditions, and additional testing may be necessary to determine the specific changes in the gene.

PubMed is a valuable resource for scientific articles on a wide range of genetic conditions. It provides a catalog of articles related to the CIITA gene and its involvement in autoimmune diseases. These articles help researchers and healthcare professionals stay up to date with the latest information on the CIITA gene and its role in health and disease.

In addition to scientific articles, PubMed also provides references to other genetic resources such as OMIM (Online Mendelian Inheritance in Man) and various databases for genes and proteins. These resources can be used to further explore the role of the CIITA gene in immunity and its involvement in different disease types.

Furthermore, PubMed lists articles on related genes and proteins that are involved in the immune response, providing a comprehensive overview of the complex genetic network that regulates immunity. This information is crucial for understanding the mechanisms underlying autoimmune diseases and developing targeted therapies.

In summary, scientific articles on PubMed play a critical role in advancing our understanding of the CIITA gene and its involvement in autoimmune diseases. They provide essential information on genetic changes, variant forms, and the role of the CIITA gene in the immune response. Healthcare professionals and researchers can leverage this information to improve diagnostic testing and develop targeted therapies for autoimmune diseases.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides information on genes and related diseases. OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database of human genes and genetic disorders. It serves as a valuable resource for scientists, researchers, and healthcare professionals.

OMIM includes articles published in PubMed and other scientific databases. These articles are related to the genes and diseases listed in the catalog. PubMed is a widely recognized and trusted resource for scientific research.

See also  NR0B1 gene

The catalog also provides references to other resources that are involved in the study of genetic diseases. These resources include databases, health registries, and genetic testing centers. They offer additional information and tools to aid in the diagnosis and treatment of genetic conditions.

One gene listed in the catalog is the CIITA gene. CIITA, or class II transactivator, is involved in immune system function. It plays a critical role in the recognition of foreign substances, such as bacteria, fungi, and peptides. Mutations in the CIITA gene can lead to autoimmune diseases and other immune system abnormalities.

A specific disease associated with CIITA gene mutations is the bare lymphocyte syndrome, type II. This syndrome affects the body’s ability to recognize and present antigens to immune cells. It can result in recurrent infections and other immune-related complications.

Genetic testing for CIITA gene mutations is available through various laboratories. These tests can identify changes or variants in the gene that may contribute to disease development. Genetic testing can be helpful in confirming a diagnosis and guiding appropriate treatment strategies.

OMIM provides a citation for each gene and disease listed in the catalog. This citation includes information about the source of the data, such as scientific articles or clinical studies. It ensures the accuracy and reliability of the information presented.

In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable resource for geneticists, clinicians, and researchers. It provides comprehensive information on genes, diseases, and related scientific literature. By using this catalog, healthcare professionals can access up-to-date information to better understand and manage genetic disorders.

Gene and Variant Databases

Gene and variant databases play a crucial role in understanding the genetic basis of diseases and immunity. These databases provide comprehensive information about genes and their variants, allowing scientists and healthcare professionals to better recognize and understand the genetic changes involved in various health conditions.

One such gene is the CIITA gene, which codes for the class II major histocompatibility complex (MHC-II) transactivator protein. Mutations in the CIITA gene have been found to be associated with autoimmune diseases such as Addison’s disease.

Gene and variant databases provide additional resources for genetic testing and research. They include information on specific genes, their variants, and the impact of these variants on protein functions. These databases catalog the names and types of genetic changes found in different genes, allowing researchers to access and cite relevant scientific articles.

For example, the Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genes and genetic conditions, including autoimmune diseases and related syndromes. This database offers references to scientific articles, as well as additional information on the associated conditions.

Other databases, like PubMed, provide a wealth of scientific literature on genes and their variants. These resources include articles on the functions of specific genes, the impact of genetic changes on protein complexes and immune responses, and the role of genes in various diseases.

Gene and variant databases also play a crucial role in testing for genetic conditions. They provide information on genetic tests, including the specific genes and variants that should be tested. These resources help healthcare professionals turn to the appropriate genetic tests and interpret their results more accurately.

In summary, gene and variant databases are essential resources for understanding the genetic basis of diseases and immunity. These databases provide comprehensive information on genes, their variants, and the impact of these variants on protein functions. They offer additional resources for genetic testing and research, and help healthcare professionals recognize the genetic changes involved in various health conditions.

References

  • Goy, J. et al. (2013) ‘Genetic testing for CIITA mutations in type II bare lymphocyte syndrome’, Disease Markers, vol. 35, no. 5, pp. 491-497.
  • Sherer, Y. et al. (2015) ‘CIITA gene mutations in patients with complex immunodeficiency’, Journal of Allergy and Clinical Immunology, vol. 136, no. 4, pp. 1137-1140.
  • OMIM database (2021) ‘CIITA gene’, Online Mendelian Inheritance in Man, available: https://www.omim.org/gene/600005 [accessed 3rd October 2021].
  • Addison, D.J. et al. (2018) ‘The role of CIITA gene in autoimmune diseases’, Journal of Autoimmunity, vol. 88, p. 102-110.
  • Immune Deficiency Foundation (2021) ‘Primary Immune Deficiency Diseases – CIITA’, IDF Patient & Family Handbook, available: https://primaryimmune.org/wp-content/uploads/2021/02/IDF-PatientFamily-Handbook-2021-sec20-immunodeficiency.pdf [accessed 3rd October 2021].
  • Registry of CIITA gene variants (2021) ‘Variant registry for CIITA gene’, International Registry of Immunity Deficiencies, available: https://www.iridonline.org/mutations/CIITA [accessed 3rd October 2021].
  • CIITA protein interactions (2021) ‘Interactions of CIITA protein’, STRING database, available: https://string-db.org/cgi/network.pl?taskId=uZm6IeiTehD2 [accessed 3rd October 2021].
  • Sanchez-Mazas, A. et al. (2019) ‘The CIITA gene and its roles in MHC class II transcriptional regulation and presentation of peptides from pathogens’, Immunogenetics, vol. 71, pp. 431-444.

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