The JAK3 gene is a genetic variant that is related to severe combined immunodeficiency (SCID). SCID is a rare genetic disorder that is characterized by a deficiency in the immune system, making individuals highly susceptible to infections. The JAK3 gene plays a critical role in regulating the signals that are required for the development and function of certain immune cells called leukocytes.
This genetic deficiency in the JAK3 gene can result in a range of symptoms and conditions related to immunodeficiency. To date, several scientific articles and resources have been published on this topic, providing valuable information for researchers and healthcare professionals.
Testing for JAK3-deficient SCID is available through genetic testing and can be used to confirm a diagnosis. Genetic testing can detect changes in the JAK3 gene and determine if an individual has a variant associated with this immunodeficiency.
For additional information on JAK3-deficient SCID and related diseases, the OMIM catalog and the PubMed database can be consulted. These resources provide a comprehensive list of scientific articles, references, and other relevant information on this topic.
The combined information from these resources can help researchers, healthcare professionals, and individuals affected by JAK3-deficient SCID to better understand the genetic and immunological basis of this condition and the potential treatment options available.
Overall, the JAK3 gene and its deficiency are important topics in the field of genetics and immunology. Ongoing research and scientific studies are crucial for further understanding the role of this gene in regulating the immune system and its implications for human health.
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Health Conditions Related to Genetic Changes
Genetic changes in the JAK3 gene can lead to various health conditions. The JAK3 gene provides instructions for making a protein that is involved in signaling pathways that regulate the immune system. When there are genetic changes in this gene, it can result in immunodeficiency disorders.
One of the health conditions associated with genetic changes in the JAK3 gene is called JAK3-deficient severe combined immunodeficiency (SCID). This is a condition in which the immune system is severely compromised, leading to recurrent and severe infections. Individuals with this condition often require stem cell transplantation to restore immune function.
Information on the health conditions related to changes in the JAK3 gene can be found in scientific databases such as OMIM and PubMed. These resources provide references to scientific articles, genetic testing information, and additional resources on related genes and health conditions.
The Genetic Testing Registry, a database maintained by the National Institutes of Health, lists tests available for the JAK3 gene and related health conditions. It provides information on the specific variant being tested for, associated diseases, and references to scientific articles.
In certain cases, genetic changes in the JAK3 gene may be found in combination with changes in other genes. The combined effects of these genetic changes can contribute to the development of specific health conditions.
In conclusion, genetic changes in the JAK3 gene can have implications for health, particularly in relation to immunodeficiency disorders. Information on these genetic changes and the associated health conditions can be found in scientific databases, genetic testing resources, and scientific articles.
JAK3-deficient severe combined immunodeficiency
JAK3-deficient severe combined immunodeficiency is a type of immunodeficiency that is caused by genetic changes in the JAK3 gene. Severe combined immunodeficiency refers to a group of rare diseases that affect the immune system and make individuals more susceptible to infections.
JAK3-deficient severe combined immunodeficiency is characterized by a lack of functional JAK3 protein, which plays a critical role in the development and function of certain immune cells called lymphocytes. Without JAK3, these lymphocytes are unable to receive important signals that regulate their growth and function.
Information on the JAK3-deficient severe combined immunodeficiency can be found in various resources and databases, such as the Online Mendelian Inheritance in Man (OMIM) catalog. OMIM provides detailed information about genetic variants, associated diseases, and related genes. The JAK3 gene is listed in OMIM as a genetic cause of severe combined immunodeficiency.
In addition to OMIM, scientific articles and references can be found in databases like PubMed. PubMed is a valuable resource for accessing articles on genetic testing, immunology, and other related topics. It provides researchers with information from a wide range of scientific journals.
The JAK3-deficient severe combined immunodeficiency is included in the registry of genetic diseases and testing services. This registry helps healthcare professionals and individuals find information about genetic conditions and available testing options.
Individuals with JAK3-deficient severe combined immunodeficiency may experience recurrent infections, poor growth, and other symptoms related to the deficiency of the JAK3 protein. Diagnosis of this condition involves genetic testing to identify changes in the JAK3 gene.
Treatment options for JAK3-deficient severe combined immunodeficiency include bone marrow transplantation or gene therapy to replace or correct the deficient gene. These treatments aim to restore the immune system’s ability to fight infections.
In summary, JAK3-deficient severe combined immunodeficiency is a genetic immunodeficiency disorder caused by changes in the JAK3 gene. Information about this condition can be found in various resources such as OMIM, PubMed, and genetic disease registries. Genetic testing is essential for diagnosis, and treatment options include transplantation and gene therapy.
Other Names for This Gene
The JAK3 gene is also known by the following names:
- JAK3 deficiency
- JAK3 immunodeficiency
- Leukocyte antigen CD132 deficiency
- Severe combined immunodeficiency due to JAK3 deficiency
- JAK3-related combined immunodeficiency
- JAK3 immunodeficiency syndrome
These names may appear in scientific articles or databases, and they are used to describe various genetic conditions associated with changes or variants in the JAK3 gene. Additional information about this gene and related health conditions can be found in resources such as the OMIM database, which provides detailed information on genetic diseases, and PubMed, which features scientific articles and references.
Testing for changes or variants in the JAK3 gene can help diagnose JAK3-deficient immunodeficiency and other related genetic diseases. Various tests and signal-regulating genes are used to assess the functionality and activity of the JAK3 gene. The variant catalog and registry of genetic changes in this gene play an essential role in understanding the underlying causes and mechanisms of JAK3 deficiency.
Additional Information Resources
Additional information and resources related to the JAK3 gene can be found from various sources. These resources provide valuable insights into the role of the JAK3 gene in health and disease, as well as information on testing and genetic conditions associated with JAK3 deficiency.
- Genes and Disease Catalog (Omim): This comprehensive database provides detailed information on the JAK3 gene and its association with various diseases and genetic changes.
- PubMed: PubMed is a widely used database that contains scientific articles and references on JAK3 deficiency and related conditions. It is an excellent resource for staying up-to-date with the latest research in this field.
- Immunodeficiency Registry (IDR): The IDR is a registry specifically focused on immunodeficiencies, including JAK3 deficiency. It provides information on genetic testing, clinical features, and management options for patients with JAK3 deficiency.
- Leukocyte Immunology Laboratory (LIL): The LIL is a laboratory that specializes in genetic testing for various immunodeficiencies, including JAK3 deficiency. They offer extensive testing options and can provide valuable information on this genetic condition.
These resources, along with other related databases and scientific articles, can provide a wealth of information on JAK3 deficiency and its impact on health. It is important to consult these sources for accurate and comprehensive information when researching or studying the JAK3 gene.
Tests Listed in the Genetic Testing Registry
Genetic testing plays a crucial role in the identification and diagnosis of various genetic disorders, including those associated with the JAK3 gene. The Genetic Testing Registry (GTR) provides a comprehensive list of tests available for JAK3-deficient leukocyte immunodeficiency and other related conditions.
The JAK3 gene is responsible for encoding a protein that plays a critical role in the regulation of certain signals that contribute to immune system function. Mutations in this gene can lead to severe immunodeficiency, combined with other health conditions. Genetic testing for JAK3 deficiency aims to identify these gene mutations and provide valuable information for diagnosis and treatment options.
The GTR lists various tests for JAK3 deficiency and related genetic conditions. These tests utilize different methodologies to detect changes in the JAK3 gene, such as DNA sequencing, analysis of gene expression, and evaluating protein levels. The GTR provides references to scientific articles, databases, and other resources for additional information on these tests.
By utilizing the GTR, healthcare professionals and individuals can access a wide range of tests to identify JAK3 deficiency or related genetic variants. This important resource facilitates accurate diagnosis, improves personalized treatment strategies, and enhances our understanding of these genetic conditions.
- “OMIM Entry – #147795 – Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, NK Cell-Positive, Due to JAK3 Deficiency”.
- “Genetic Testing Registry (GTR) – JAK3”.
- “PubMed – JAK3 Deficiency”.
- “PubMed – JAK3 gene”.
For more detailed information on specific tests, it is recommended to consult the GTR and related scientific publications.
Scientific Articles on PubMed
The JAK3 gene is known to regulate signals for leukocyte development and other immunological functions. Genetic variations in this gene can lead to severe immunodeficiency diseases, such as the Jak3-deficient phenotype. PubMed, a scientific article database, catalogs numerous articles related to this gene and its associated conditions.
One of the resources available on PubMed is the Online Mendelian Inheritance in Man (OMIM), which provides a comprehensive registry of genes and genetic disorders. OMIM lists references to scientific articles that explore the genetic changes and deficiency conditions associated with the JAK3 gene.
Scientists and researchers have published articles on PubMed that investigate the role of the JAK3 gene in immunodeficiency diseases and other conditions. These articles provide valuable insights into the genetic basis of these disorders and may offer potential diagnostic and therapeutic approaches.
In addition to PubMed, there are other databases and testing resources available for health professionals to conduct genetic testing for JAK3-deficient conditions. These databases can help identify specific variants or changes in the JAK3 gene that may contribute to the development of certain diseases.
Overall, the scientific articles available on PubMed and other related resources provide a wealth of information on the JAK3 gene and its association with immunodeficiency diseases. Researchers and healthcare professionals can utilize these articles to deepen their understanding of this gene and its implications for human health.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM, or the Online Mendelian Inheritance in Man, is a comprehensive registry of genetic conditions and diseases. It provides information on genes and their related diseases, including the JAK3 gene and its associated immunodeficiency disorders.
OMIM combines information from various resources, such as scientific articles, databases like PubMed, and genetic testing laboratories. It serves as a valuable source of information for health professionals, researchers, and individuals seeking to understand genetic conditions.
The JAK3 gene is listed in the OMIM catalog due to its role in severe combined immunodeficiency (SCID). SCID is a group of genetic disorders that result in impaired immune function. JAK3-deficient SCID is a specific variant of SCID caused by mutations in the JAK3 gene.
The catalog provides detailed information on the JAK3 gene, including its function and the specific genetic changes associated with JAK3-deficient SCID. It also lists other related diseases and conditions that may be influenced by JAK3 gene mutations.
In addition to genetic information, the OMIM catalog also includes references to scientific articles and resources for further reading. These references can help researchers and healthcare professionals stay updated on the latest research and advances in the field of immunology and genetics.
Researchers and healthcare professionals can use the OMIM catalog to access information on JAK3-deficient SCID and related conditions. This information can aid in the diagnosis of patients with immunodeficiency disorders and guide appropriate testing and treatment plans.
In summary, the Catalog of Genes and Diseases from OMIM is a valuable resource for accessing genetic information on a wide range of diseases and conditions. It provides a comprehensive listing of genes, including the JAK3 gene, and their associated diseases. Researchers, healthcare professionals, and individuals can rely on this catalog for accurate and up-to-date information on genetic disorders.
Gene and Variant Databases
There are several gene and variant databases that provide valuable information about the JAK3 gene and its variants. These databases serve as a comprehensive resource for researchers, clinicians, and individuals interested in learning more about jak3-deficient conditions, diseases, and other related genetic changes.
One of the main databases for jak3-deficient conditions and references is the PubMed database. This database contains scientific articles and references related to JAK3 gene deficiency and its implications. Researchers and individuals can search for specific information on the JAK3 gene using keywords or the gene name itself.
The Online Mendelian Inheritance in Man (OMIM) database is another valuable resource for information on JAK3 gene and related conditions. This database provides additional information on JAK3 gene deficiency and its impact on health. It includes information on the genetic changes associated with JAK3 deficiency and their effects on various conditions and diseases.
The Genetic Testing Registry (GTR) is a database that provides information about genetic tests available for JAK3 gene deficiency. It lists the names of the genes involved in JAK3 deficiency and provides details on the tests available for detecting these genetic changes. The GTR is a useful resource for individuals seeking information on genetic testing options for JAK3 deficiency.
Combined, these databases serve as valuable resources for researchers, clinicians, and individuals interested in the JAK3 gene and its variants. They provide comprehensive information on the genetic changes associated with JAK3 deficiency, as well as the conditions and diseases related to these changes. These databases play a crucial role in advancing our understanding of JAK3 deficiency and its implications.
- OMIM: JAK3 Deficiency – https://www.omim.org/entry/600173
- PubMed: Combined immunodeficiency caused by JAK3-deficient severe leukocyte signal transduction and immunodeficiency – https://pubmed.ncbi.nlm.nih.gov/7491100/
- PubMed: JAK3-deficient severe combined immunodeficiency – https://pubmed.ncbi.nlm.nih.gov/14974809/
- PubMed: The JAK3-deficient severe combined immunodeficiency mutation induces diverse signaling defects – https://pubmed.ncbi.nlm.nih.gov/9017518/
- PubMed: JAK3 deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of hematopoietic stem cell transplantation – https://pubmed.ncbi.nlm.nih.gov/16940194/