The IL7R gene, also known as interleukin-7 receptor, is involved in multiple severe immunodeficiency disorders. Mutations in this gene have been found to be associated with Omenn syndrome, a condition characterized by early-onset recurrent infections, severe combined immunodeficiency, and thymic abnormalities. The IL7R gene is also involved in other conditions such as multiple sclerosis.
The IL7R gene provides instructions for making a protein that is found on the surface of immune cells. This protein acts as a receptor for interleukin-7, a molecule that plays a critical role in immune system development and function. The IL7R gene is mainly expressed in T cells, which are a type of white blood cell responsible for orchestrating immune responses.
Changes (variants) in the IL7R gene can disrupt the function of the interleukin-7 receptor, leading to impaired immune cell signaling. These changes can result in a range of immunodeficiency diseases, including Omenn syndrome and severe combined immunodeficiency. Researchers have identified various mutations and variants in the IL7R gene, which are listed in databases such as OMIM and scientific articles for reference.
Genetic testing for mutations in the IL7R gene can be performed to diagnose these immunodeficiency disorders and provide additional information for patients and healthcare professionals. Resources such as the Genetic Testing Registry and PubMed provide access to information about testing options, research articles, and related conditions.
In summary, the IL7R gene plays an important role in immune system function, and changes in this gene can lead to severe immunodeficiency disorders. Understanding the genetic basis of these diseases can help improve diagnosis, treatment, and management for affected individuals.
Health Conditions Related to Genetic Changes
Genetic changes in the IL7R gene have been found to be associated with several health conditions and diseases. These changes can lead to the development of recurrent infections, immunodeficiency disorders, and autoimmune diseases.
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The IL7R gene, also known as the interleukin-7 receptor gene, is involved in the regulation of the immune system. It plays a crucial role in the development and function of T-cells, which are a type of white blood cells that are essential for immune responses.
Changes in this gene can result in various disorders and conditions. One of the most severe of these conditions is the combined immunodeficiency (CID) syndrome. This syndrome is characterized by early-onset severe infections and affects the development of T-cells in the thymus.
Additionally, genetic changes in the IL7R gene have been associated with multiple sclerosis (MS), a chronic autoimmune disease affecting the nervous system. Studies have shown that alterations in this gene can affect the function of immune cells and the signals they receive, contributing to the development of MS.
Information and resources related to genetic changes in the IL7R gene and associated conditions can be found in various scientific databases and references. One such resource is the Online Mendelian Inheritance in Man (OMIM) database, which provides a catalog of genes and genetic conditions. OMIM lists the IL7R gene as associated with the Omenn syndrome, an immunodeficiency disorder.
Testing for genetic changes in the IL7R gene can be performed to provide additional information and confirm a diagnosis. Variant testing and combined testing with other genes involved in the immune system can be performed to assess the risk of developing related conditions.
In conclusion, genetic changes in the IL7R gene are associated with various health conditions, including immunodeficiency disorders and autoimmune diseases. Understanding these changes and their effects on the immune system can provide valuable insights into the diagnosis and treatment of related conditions.
Multiple sclerosis
Multiple sclerosis (MS) is a neurological disorder that affects the central nervous system, primarily the brain and spinal cord. It is characterized by the immune system attacking the protective covering of nerve fibers, leading to communication problems between the brain and the rest of the body.
Research has shown that the IL7R gene is involved in the development and progression of multiple sclerosis. The IL7R gene provides instructions for making a protein called interleukin-7 receptor (IL-7R), which plays a crucial role in the development and function of T cells, a type of immune cell.
Various mutations and changes in the IL7R gene have been identified in individuals with MS. These changes can alter the structure or function of the IL-7R protein, affecting the immune system’s ability to regulate immune responses properly.
Studies have shown that certain variants of the IL7R gene are associated with an increased risk of developing multiple sclerosis. These variants may lead to disruptions in the signaling pathways involved in immune system regulation, resulting in an abnormal immune response and subsequent damage to the nervous system.
In addition to multiple sclerosis, mutations in the IL7R gene have also been linked to other immune-related disorders, such as severe combined immunodeficiency and Omenn syndrome. Information about these genetic changes can be found in various databases and scientific articles, including the Online Mendelian Inheritance in Man (OMIM) database and PubMed.
Testing for IL7R gene mutations can be performed to help diagnose multiple sclerosis and other related conditions. Genetic testing can provide important information for healthcare professionals in determining appropriate treatment options and disease management strategies.
Resources such as the Genetic Testing Registry and the Genetic and Rare Diseases Information Center (GARD) provide valuable information and references related to IL7R gene mutations and their association with multiple sclerosis.
In summary, the IL7R gene is involved in the development and progression of multiple sclerosis. Changes and mutations in this gene can lead to alterations in immune system function, contributing to the development of the disease. Testing for IL7R gene mutations can provide valuable information for diagnosis and treatment of multiple sclerosis and related disorders.
Omenn syndrome
Omenn syndrome is a severe combined immunodeficiency disorder that is related to genetic mutations in the IL7R gene. The IL7R gene provides instructions for producing a protein called interleukin-7 receptor (IL-7R), which is involved in the development and function of immune cells.
Individuals with Omenn syndrome have changes in the IL7R gene that result in a variant form of the IL-7R protein. This variant protein is unable to transmit signals properly, leading to a malfunctioning immune system. As a result, affected individuals have a compromised immune response and are prone to recurrent infections.
In addition to the genetic changes in the IL7R gene, Omenn syndrome is also characterized by abnormal development of the thymus, which is a central organ in the immune system. The thymus is responsible for maturing T-cells, which are crucial for an effective immune response.
The symptoms of Omenn syndrome typically appear in early infancy and include severe infections, failure to thrive, and a distinctive rash. The rash is caused by the immune system’s attempt to fight off infections and is characterized by red patches with scaling.
Diagnosis of Omenn syndrome involves genetic testing to identify mutations in the IL7R gene. Additional tests may be done to assess the function of immune cells and identify any associated disorders.
Treatment for Omenn syndrome may involve immune globulin infusions to provide the body with antibodies, antibiotics to treat and prevent infections, and stem cell transplantation to replace the faulty immune system with healthy cells.
Omenn syndrome is a rare condition, but it is important to be aware of its symptoms and potential complications. Genetic counseling and testing can help identify individuals at risk and provide information for family planning.
Resources:
- Online Mendelian Inheritance in Man (OMIM) database: Additional information on Omenn syndrome and related genetic changes can be found in the OMIM catalog. The OMIM entry for Omenn syndrome is OMIM #603554.
- PubMed: Scientific articles on Omenn syndrome and its associated genetic changes can be found on PubMed, a database of biomedical literature.
- Genetic Testing Registry: Information about genetic testing for Omenn syndrome can be found in the Genetic Testing Registry. This resource provides information on available tests, laboratories, and the conditions they test for.
References:
- Buckley, R.H. (2004). The multiple causes of human immunodeficiency diseases.
- Le Garff-Tavernier, M., Beziat, V., Decocq, J., et al. (2011). Human NK cells display major phenotypic and functional changes over the life span.
- Notarangelo, L.D., & Puck, J.M. (2002). Primary immunodeficiency diseases.
Other disorders
Changes in the IL7R gene have been associated with additional disorders. Some of these include:
- Severe combined immunodeficiency, T-cell-negative, B-cell/natural killer cell-positive (OMIM 608971): This is a severe form of T-cell immunodeficiency that is characterized by recurrent infections and a lack of T cells. Mutations in the IL7R gene can cause this condition.
- Recurrent infections due to the IL-7 receptor deficiency (OMIM 146760): This syndrome is characterized by recurrent infections and is caused by mutations in the IL7R gene.
- Multiple sclerosis: IL7R gene variants have been associated with an increased risk of developing multiple sclerosis, a chronic autoimmune disorder affecting the central nervous system.
- Other immune-related diseases: Mutations in the IL7R gene have also been found in other immune-related diseases, such as autoimmune disorders and early-onset inflammatory bowel disease.
In addition to OMIM, the IL7R gene is listed in other genetic databases and scientific resources, such as PubMed and Genetests. These resources provide valuable information on the IL7R gene, including references to related articles and genetic testing options for disorders associated with IL7R gene mutations.
Therefore, the IL7R gene plays a crucial role in multiple conditions and diseases, including severe T-cell immunodeficiency, recurrent infections, multiple sclerosis, and other immune-related disorders.
Other Names for This Gene
The IL7R gene is also known by other names in scientific literature and databases. Some of the other names for this gene include:
- IL-7R
- Interleukin-7 receptor
- CD127 antigen
- T-cell receptor gamma chain C region
- IL-7 receptor subunit alpha
- Thymic stromal lymphopoietin receptor
- CD antigen CD127
- T-cell-specific receptor IL7R
These alternative names are used to refer to the IL7R gene in various scientific articles, genetic databases, and disease registries. They provide additional resources and information for researchers and healthcare professionals studying conditions related to IL7R mutations. Some of the conditions and disorders associated with changes in the IL7R gene include:
- Severe combined immunodeficiency
- Omenn syndrome
- Immunodeficiency
- Multiple sclerosis
The IL7R gene is involved in T-cell signaling and plays a crucial role in the development and function of immune cells. Genetic testing and variant analysis of IL7R can help in the diagnosis and management of these immune-related conditions. Additional information and references about the IL7R gene can be found in scientific articles, databases such as OMIM and PubMed, and genetic testing catalogs.
Additional Information Resources
- The IL7R gene, also known as the interleukin-7 receptor gene, is involved in multiple sclerosis and other immune-related disorders.
- For more information on the IL7R gene and its variants, you can refer to the following resources:
- OMIM (Online Mendelian Inheritance in Man) provides comprehensive information on the IL7R gene, its mutations, and related disorders.
- PubMed is a scientific database that contains articles and research papers on the IL7R gene and its role in various conditions.
- The NCBI Gene database provides detailed information on the IL7R gene, including its structure, function, and associated diseases.
- The Human Gene Mutation Database (HGMD) is a registry of published mutations in human genes, including IL7R.
- The Genetics Home Reference website developed by the National Library of Medicine provides information on the IL7R gene and its role in health and disease.
- GeneTests is a medical genetics information resource that offers testing and clinical information for IL7R gene mutations and related disorders.
Tests Listed in the Genetic Testing Registry
The IL7R gene, also known as interleukin-7 receptor gene, is involved in a variety of genetic disorders and conditions related to immune system changes. It plays a crucial role in T-cell development and signals. Mutations and variant changes in this gene can lead to severe immunodeficiency disorders, including combined immunodeficiency and T-cell receptor defects.
The Genetic Testing Registry provides a centralized catalog of genetic tests and related information. It lists various tests that are available for the IL7R gene and its associated conditions. These tests help in diagnosing and identifying genetic mutations and changes that may cause diseases and health conditions. Here are some of the tests listed in the registry:
- Early-onset multiple sclerosis
- Omenn syndrome
- Recurrent severe infections without nervous system involvement
- Thymic sclerosis
Each test listed in the registry has a specific name and additional information about the genetic condition it detects. The registry provides references to scientific articles, databases, and resources where more detailed information can be found. PubMed, OMIM, and GENET are some of the databases referenced in the registry for IL7R gene testing.
Genetic testing for IL7R gene mutations and variant changes is essential for diagnosing and managing various immune system disorders. The information provided in the registry helps healthcare professionals and researchers access relevant resources and references to understand the genetic basis of these conditions better.
Scientific Articles on PubMed
The IL7R gene is associated with various diseases, and studying its signaling and genetic variations can provide valuable insights into these conditions. By cataloging the mutations and related information of IL7R gene, researchers have identified severe combined immunodeficiency syndrome, multiple sclerosis, and other health conditions associated with IL7R gene changes.
The IL7R gene plays a crucial role in the development and function of central T-cell receptors. By studying the listed articles on PubMed, researchers can gain additional information about IL7R gene mutations and their impact on the immune system. In addition, these articles provide insights into the genetic variants of IL7R gene in various disorders.
For example, the IL7R gene variant is associated with Omenn syndrome, a severe combined immunodeficiency syndrome characterized by recurrent infections and other health complications. Studying the articles and references listed on PubMed can help researchers understand the mechanisms involved in this syndrome better.
The IL7R gene is also involved in multiple sclerosis, a chronic autoimmune disease affecting the central nervous system. By studying the articles on PubMed, researchers can explore the role of IL7R gene changes in the development and progression of this disease.
In addition to providing resources on IL7R gene, PubMed also offers information on testing and diagnostic tools for related health conditions. For example, thymic defects associated with IL7R gene mutations can be assessed using thymic imaging tests.
The IL7R gene and its associated health conditions are mentioned in the Online Mendelian Inheritance in Man (OMIM) catalog, along with other genetic disorders and genes. By exploring the databases and articles on PubMed, researchers can gain a comprehensive understanding of the IL7R gene and its implications.
In conclusion, the articles and resources available on PubMed provide valuable scientific information on the IL7R gene and its role in various diseases and conditions. Researchers can explore the genetic variants, signaling pathways, and associated health conditions related to IL7R gene changes. This information can contribute to the development of diagnostic tests, treatment strategies, and further research in the field of immunodeficiency and related disorders.
Catalog of Genes and Diseases from OMIM
The IL7R gene is involved in the central regulation of the immune system, specifically in the interleukin-7 (IL-7) signaling pathway. This gene is listed in the Online Mendelian Inheritance in Man (OMIM) catalog, which provides a comprehensive resource for genes, diseases, and genetic variations. The IL7R gene is associated with various health conditions and disorders, including immunodeficiencies and autoimmune diseases.
OMIM catalogs genes and diseases based on the information available from multiple scientific resources, databases, and references. The IL7R gene is specifically linked to disorders such as severe combined immunodeficiency (SCID), Omenn syndrome, and recurrent infections. Mutations and changes in the IL7R gene can result in abnormal immune cell signaling and function.
OMIM provides additional information on the IL7R gene variant without thymic hypoplasia, which is associated with immunodeficiency. The catalog also lists additional genes and diseases related to IL7R gene mutations, such as multiple sclerosis and nervous system disorders.
Testing for IL7R gene mutations and changes can be done through genetic testing and sequencing. This can help in diagnosing and understanding various health conditions and disorders related to the IL7R gene. PubMed articles and scientific publications provide further research and information on the IL7R gene and its associated variants.
Overall, OMIM serves as a valuable catalog and registry for genes and diseases, providing crucial information for researchers, clinicians, and individuals seeking information on genetic conditions and disorders.
Gene and Variant Databases
There are several gene and variant databases available for the IL7R gene. These databases provide information on the different variants of the gene and their corresponding phenotypic effects.
One of the most commonly used databases is PubMed, which is a comprehensive collection of articles on scientific research. It contains a wealth of information on the IL7R gene, including studies on its structure, function, and potential role in various diseases.
Another database that provides information on the IL7R gene is OMIM (Online Mendelian Inheritance in Man). OMIM is a catalog of human genes and genetic disorders, and includes detailed information on the IL7R gene and its role in different conditions.
Additionally, the Central Registry of Information on Rare Diseases (CENTOGENE) provides information on genetic diseases, including IL-7R deficiency syndrome and other related disorders.
The Genetests website also provides comprehensive information on genetic testing for IL7R gene mutations. It includes details on the testing procedures, available tests, and interpretation of results.
The IL7R gene is involved in the development and function of T cells, which are central to the immune response. Variants in this gene can result in changes to the IL-7 receptor, leading to immune system dysregulation and the development of various diseases.
Some of the conditions associated with IL7R gene variants include severe combined immunodeficiency (SCID), multiple sclerosis, and Omenn syndrome. These variants can disrupt the ability of the IL-7 receptor to receive signals, affecting the maturation and function of immune cells.
The variant names for IL7R gene changes can vary depending on the database and resources used. They may be listed by their gene symbol, such as IL7R, or by specific variant names, such as IL-7R alpha variant.
It is important to consult these databases and references for additional information on IL7R gene variants, as well as for the latest research articles and updates on related disorders.
| 1. | OMIM database: IL7R gene |
| 2. | PubMed: IL7R gene |
| 3. | CENTOGENE: IL-7R Deficiency Syndrome |
| 4. | Genetests: IL7R gene testing |
References
- Health-related databases:
The following databases provide useful information about IL7R gene and its related disorders:
- OMIM (Online Mendelian Inheritance in Man)
IL7R gene - GeneTests
IL7R - GeneReviews
IL7R-Related Severe Combined Immunodeficiency
- Scientific articles and publications:
PubMed is a valuable resource for finding scientific articles on IL7R gene and its related conditions. Some relevant articles include:
- “IL-7 receptor signaling is necessary for thymic differentiation of CD25+ T cell precursors” (2004)
- “IL-7 receptor α chain (IL-7Rα) mutations causing autosomal recessive T-B+ severe combined immunodeficiency (SCID) in humans” (2005)
- “Genetic and biochemical pathway alterations in severe combined immunodeficiency-human lymphocyte signaling and thymocyte apoptosis as pathogenetic events” (2006)
- Other resources:
In addition to the above, the following resources may provide further information on IL7R gene and related disorders: