The IL2RG gene, also listed as “interleukin 2 receptor subunit gamma,” is a gene located on the X chromosome. This gene is responsible for encoding the cytokine receptor common gamma chain, which plays a crucial role in regulating the immune system. Mutations or changes in this gene can result in severe combined immunodeficiency (SCID), a group of rare genetic disorders where the immune system is unable to effectively protect the body from infections.
According to PubMed, several references and articles have been published regarding the changes in the IL2RG gene and its relation to various immune conditions. The OMIM database also provides additional information on the gene and its associated diseases. With the combined resources from these databases, genetic testing can be performed to identify variant genes and provide insight into the diagnosis and treatment of immunodeficiency diseases.
Inside the cell, the IL2RG gene encodes a receptor that is shared among several cytokines, including interleukin-2, interleukin-4, interleukin-7, interleukin-9, and interleukin-15. This shared receptor, also known as the common gamma chain, is essential for the development and function of immune cells such as T and B lymphocytes and natural killer cells.
By understanding the IL2RG gene and its role in the immune system, researchers and healthcare professionals can gain valuable knowledge to better diagnose and treat patients with immunodeficiency disorders. This information can contribute to the development of targeted therapies and improve the overall health and quality of life for individuals affected by SCID and related conditions.
Health Conditions Related to Genetic Changes
Genetic changes in the IL2RG gene are associated with various health conditions and diseases primarily related to the immune system. These conditions are collectively known as X-linked severe combined immunodeficiency (XSCID) or X-linked combined immunodeficiency (XCID).
Individuals with XSCID or XCID have a weakened immune system that leaves them more susceptible to infections. The IL2RG gene provides instructions for making a protein called the common gamma chain (γc). This protein is a crucial component of several receptors on immune cells, including T cells, B cells, and natural killer cells. The receptors help these immune cells respond to signals from other immune cells, regulate immune reactions, and coordinate the body’s defense against infections.
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Changes in the IL2RG gene can disrupt the production or function of the common gamma chain protein, impairing the immune system’s ability to mount an effective immune response. This can lead to recurrent, severe, and often life-threatening infections.
Diagnosis of IL2RG gene-related immunodeficiency can be confirmed through genetic testing. Several resources, such as OMIM (Online Mendelian Inheritance in Man) and PubMed, provide comprehensive scientific information on the IL2RG gene and related health conditions.
Additional testing can be performed to identify specific changes or variants in the IL2RG gene. The Human Gene Mutation Database (HGMD), ClinVar, and the X-Linked SCID Registry and Catalog are valuable databases that compile data on genetic changes associated with XSCID or XCID.
Healthcare professionals may use these resources to aid in the diagnosis and management of individuals with IL2RG gene-related immunodeficiency. Furthermore, the X-Linked SCID Registry and Catalog can help researchers and clinicians stay updated on the latest articles, studies, and clinical trials related to XSCID or XCID.
In summary, genetic changes in the IL2RG gene can lead to severe combined immunodeficiency (SCID) or combined immunodeficiency (CID). These conditions weaken the immune system and increase the risk of recurrent infections. Genetic testing, along with resources such as OMIM, PubMed, HGMD, ClinVar, and the X-Linked SCID Registry and Catalog, can provide valuable information for diagnosis and management of IL2RG gene-related health conditions.
X-linked severe combined immunodeficiency
X-linked severe combined immunodeficiency (SCID) is a rare genetic disorder that affects the immune system. It is caused by mutations in the IL2RG gene, which is located on the X chromosome. This gene provides instructions for making a protein called the common gamma chain, which plays a critical role in immune cell signaling.
Individuals with X-linked SCID have a faulty common gamma chain, which leads to a severe deficiency of immune cells. As a result, they are highly susceptible to infections and often experience recurrent and severe illnesses.
The IL2RG gene is just one of several genes involved in the development and function of the immune system. Changes in other genes can also cause SCID or other combined immunodeficiency conditions. The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for information on genetic conditions, including SCID and related disorders.
Genetic testing can help identify changes in the IL2RG gene or other genes that may be associated with SCID. This testing can be done using a variety of methods, including sequencing the gene, looking for specific changes, or analyzing the protein produced by the gene. Testing may be available through specialized laboratories or as part of research studies.
The Genetic Testing Registry (GTR) is a central catalog of genetic tests and laboratories, providing information on the availability and details of specific tests. The National Center for Biotechnology Information (NCBI) provides additional resources and databases for genetic research, including PubMed, a scientific article database.
According to the OMIM database, there are several variant names for X-linked SCID, including SCIDX1, XSCID, and X-linked immunodeficiency with hyper-IgM. These names may be used interchangeably in scientific articles or medical records.
It is important for individuals with X-linked SCID or other genetic conditions to seek proper medical care and remain informed about the latest research and treatment options. This can help in managing the condition and improving overall health.
- Online Mendelian Inheritance in Man (OMIM) database: https://omim.org/
- Genetic Testing Registry (GTR): https://www.ncbi.nlm.nih.gov/gtr/
- PubMed database: https://pubmed.ncbi.nlm.nih.gov/
Other Names for This Gene
- X-linked combined immunodeficiency
- X-linked severe combined immunodeficiency
This gene is listed as one of several genes associated with combined immunodeficiency. It plays a crucial role in regulating the immune system by encoding a protein called interleukin 2 receptor gamma chain, which is essential for transmitting signals from the interleukin 2 (IL-2) receptor. Changes in this gene can lead to severe combined immunodeficiency, a group of genetic conditions characterized by a weakened immune system.
Genetic testing for changes in this gene can provide important information for diagnosing immune-related diseases. The OMIM gene catalog and PubMed are valuable resources for additional articles and references on IL2RG and related genes.
Additional Information Resources
Here are some additional resources that may provide more information on the IL2RG gene and related topics:
- PubMed: A database of scientific articles that provides information on the IL2RG gene, changes in the gene, and their association with various diseases, including severe combined immunodeficiency (SCID).
- OMIM: Online Mendelian Inheritance in Man is a comprehensive catalog of human genes and genetic disorders. The IL2RG gene and related conditions, such as X-linked severe combined immunodeficiency (XSCID), are listed in this database.
- IMMUNO Registry: This registry collects information on genetic immunodeficiency diseases, including those associated with IL2RG gene variants.
These resources can be useful in understanding the role of the IL2RG gene in the immune system, the testing and diagnosis of gene changes, and the management of conditions associated with IL2RG gene variants.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a freely accessible online resource that provides information about genetic tests for Severe Combined Immunodeficiency (SCID) and related conditions. It includes information on gene tests, other laboratory tests, and research tests.
GTR contains information from a variety of resources, including scientific literature, databases, and test catalogs. The information in GTR is constantly updated as new information becomes available.
Gene tests listed in GTR for IL2RG (interleukin 2 receptor subunit gamma) gene include:
- X-linked severe combined immunodeficiency (SCIDX1)
- Combined immunodeficiency due to IL2RG deficiency
These tests are used to identify changes (variants) in the IL2RG gene that can cause severe immunodeficiency.
The GTR provides additional information on these gene tests, including names of the conditions they are related to, information on the health impact of genetic changes, and references to scientific articles.
Information on other genes and genetic tests related to immune diseases can also be found in the GTR. GTR includes information on genes involved in regulating the immune system, such as genes coding for cytokines and their receptors.
In addition to the GTR, other resources such as OMIM (Online Mendelian Inheritance in Man) provide valuable information on genetic conditions, genes, and variants associated with diseases.
In summary, the GTR is a comprehensive and constantly updated resource that provides information on gene tests for severe immunodeficiency, including tests for the IL2RG gene. It includes information on genetic changes, related conditions, and scientific references.
Scientific Articles on PubMed
PubMed is a comprehensive catalog of scientific articles related to diseases and health. It is a valuable resource for researchers, providing access to a vast collection of articles from various scientific journals.
In the context of IL2RG gene and related genetic conditions, PubMed provides a combined database of articles from different sources. This includes information from OMIM, which lists the names and information of genes and genetic conditions. PubMed is particularly useful for researchers studying severe combined immunodeficiency (SCID) and changes in the IL2RG gene.
Inside PubMed, you can find additional resources and databases for genetic testing and immunodeficiency conditions. This helps researchers and healthcare professionals in understanding the genetic changes and signals associated with IL2RG gene variants and how they regulate the immune system.
References to scientific articles from PubMed can be used for further research and to stay updated on the latest advancements in the field of immunodeficiency and genetic testing. It is a common platform used by researchers and scientists to share their findings and contribute to the collective knowledge.
Overall, PubMed is a valuable tool for accessing scientific articles, studies, and resources related to IL2RG gene, immunodeficiency conditions, and genetic health.
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive catalog of genes and diseases. It provides a valuable resource for researchers, clinicians, and genetic counselors.
One of the genes listed in the OMIM database is the IL2RG gene. Mutations in this gene can lead to immunodeficiency, specifically X-linked severe combined immunodeficiency (SCID-X1). The IL2RG gene regulates the immune system by encoding a receptor that is important for immune cell signaling.
The catalog contains information on changes to the IL2RG gene that have been associated with SCID-X1. It provides references to scientific articles and other resources that have studied the genetic changes and their impact on health.
Inside the catalog, you can find additional information about related genes and conditions. This can be helpful for combined immunodeficiency testing or for understanding the genetic basis of other immune-related diseases.
The OMIM catalog also includes a variant table, which lists the changes in the IL2RG gene that have been reported. This table provides information on the specific genetic variant, its clinical significance, and its frequency in different populations.
Overall, the OMIM catalog is a valuable tool for researchers and clinicians working in the field of genetics. It provides a wealth of information on genes and diseases, helping to advance our understanding of the genetic basis of disease and improve patient care.
Gene and Variant Databases
Gene and variant databases are valuable resources for researchers and healthcare professionals working on the IL2RG gene. These databases provide a comprehensive catalog of genetic changes and variants associated with severe combined immunodeficiency (SCID) caused by mutations in the IL2RG gene.
One of the most well-known databases is OMIM (Online Mendelian Inheritance in Man), which lists information on genes and genetic conditions. It provides detailed information on the IL2RG gene, including the molecular basis of the variants and their associated clinical features.
Other databases such as the Genetic Testing Registry (GTR) and PubMed also provide information on the IL2RG gene and its variants. These databases catalog information from scientific articles and tests conducted in clinical settings. They also provide references to related articles and resources for further study.
Inside these databases, you can find information on common changes and variants found in the IL2RG gene, as well as additional genes that interact with or regulate the IL2RG gene. This information is crucial for understanding the role of the IL2RG gene in immune function and the development of diseases.
Healthcare professionals and researchers can use these databases to gather information on the IL2RG gene and its variants, which can aid in diagnosing patients with SCID and other related immune disorders. By understanding the specific genetic changes in the IL2RG gene, healthcare professionals can provide tailored treatments and interventions for patients.
Overall, gene and variant databases play a vital role in advancing our knowledge of the IL2RG gene and its impact on human health. They provide a wealth of information and resources for researchers and healthcare professionals working on SCID and other genetically related diseases.
- OMIM – Online Mendelian Inheritance in Man
- Genetic Testing Registry (GTR)
- IL2RG gene
- Immune system diseases
- Common variable immunodeficiency
- Severe combined immunodeficiency
- Variant of severe combined immunodeficiency
- Genetic testing
- Genetic changes
- Related genes
- Regulation of gene expression
- OMIM (Online Mendelian Inheritance in Man)
- Genes and Disease
- Genetic Testing Registry
- IL2RG gene on PUBMED
- IL2RG gene on OMIM
- Scientific articles on IL2RG gene