The CD40LG gene, also known as CD40 ligand, is a gene located on the X chromosome. It is involved in the immune system and plays a crucial role in activating B cells and promoting immunoglobulin class switching. Mutations in this gene can lead to a variety of health conditions.
In the OMIM database, there are several related conditions listed under the CD40LG gene. These conditions are often X-linked and can result in hyper IgM syndrome, a group of rare genetic diseases characterized by immunoglobulin changes and an increased susceptibility to infections.
The CD40LG gene encodes the CD40 ligand protein, which is a cell surface receptor protein involved in various signaling pathways. Mutations in this gene can lead to a loss of protein function or a defective protein, resulting in the development of X-linked hyper IgM syndrome or other related syndromes.
Testing for mutations in the CD40LG gene can be done through genetic testing. This can help with diagnosis, genetic counseling, and understanding the underlying cause of the disease. The information obtained from genetic testing can also be useful for developing targeted treatments or interventions.
Additional information on the CD40LG gene can be found in scientific articles, databases, and resources. The National Center for Biotechnology Information (NCBI) has a database called Gene that provides information on genes, genetic variants, and related diseases. The registry of biomedical research articles, PubMed, also contains a wealth of information on the CD40LG gene and its associated conditions.
In conclusion, the CD40LG gene is an important gene involved in the immune system and its mutations can lead to various health conditions. Understanding the function and role of this gene can aid in the diagnosis, treatment, and management of X-linked syndromes such as hyper IgM syndrome.
Health Conditions Related to Genetic Changes
Genetic changes in the CD40LG gene can lead to various health conditions, including syndromes and diseases. The CD40LG gene provides instructions for making the CD40 ligand protein, which is involved in the immune response.
One health condition related to genetic changes in CD40LG is hyper-IgM syndrome, a rare immunodeficiency disorder. This syndrome is characterized by elevated levels of immunoglobulin M (IgM) and decreased levels of other immunoglobulins. Hyper-IgM syndrome is often X-linked, meaning it primarily affects males. Testing for changes in CD40LG can help diagnose hyper-IgM syndrome.
Other health conditions related to genetic changes in CD40LG include central hyper-IgM syndrome and X-linked hyper-IgM syndrome. Central hyper-IgM syndrome is caused by changes in other genes involved in the CD40 signaling pathway. X-linked hyper-IgM syndrome is caused by changes in the CD40LG gene itself.
To find information on these conditions and genetic changes in CD40LG, you can consult various databases and resources. Some of these include PubMed, OMIM (Online Mendelian Inheritance in Man), and the Genetic Testing Registry. These resources provide scientific articles, references, and additional information on tests, variants, and health conditions related to the CD40LG gene.
| Resource | Description |
|---|---|
| PubMed | A database of scientific articles and references |
| OMIM | An online catalog of genetic syndromes and diseases |
| Genetic Testing Registry | A database of genetic tests and testing laboratories |
By utilizing these resources, healthcare professionals and researchers can stay updated on the latest information on the CD40LG gene and its associated health conditions. This knowledge can aid in the diagnosis, management, and treatment of individuals with genetic changes in CD40LG and related syndromes.
X-linked hyper IgM syndrome
X-linked hyper IgM syndrome is a genetic disorder caused by changes in the CD40LG gene. This gene is responsible for producing a protein called CD40L, which is important for the immune system.
Scientific resources and additional information on this syndrome can be found in databases such as PubMed, OMIM, and the Genetic Testing Registry.
People with X-linked hyper IgM syndrome have a defect in their CD40L protein, which affects the ability of immune cells to communicate with each other. This can result in a decrease in the production of immunoglobulin class-switched antibodies, particularly IgG and IgA, and an increase in the production of IgM.
Individuals with this syndrome are more susceptible to infections and may develop other health conditions such as autoimmune diseases and malignancies.
Testing for X-linked hyper IgM syndrome typically involves genetic testing to look for changes in the CD40LG gene. This can be done through sequencing the gene and analyzing any identified variants.
Related genes and proteins involved in the hyper IgM syndromes are also listed in scientific articles and resources, which can provide further information and references for research and medical professionals.
Overall, X-linked hyper IgM syndrome is a genetic disorder that affects the production of immunoglobulin class-switched antibodies, leading to an increased production of IgM. Genetic testing and scientific resources can provide valuable information for understanding and managing this condition.
Other Names for This Gene
This gene is also known by other names:
- CD40L – Cell Differentiation Protein CD40 Ligand
- CD154 – Cluster of Differentiation 154
- hCD40L – Human CD40 Ligand
- hTAP2 – Human Tumor Necrosis Factor-Alpha-Inducing Protein 2
- IMD3 – Immuodeficiency 3
- TRAP – Tumor Necrosis Factor-Related Activation Protein
- CD40-L – CD40 Ligand
These names are used in various scientific resources, databases, and publications when referring to the CD40LG gene.
The CD40LG gene is listed under the following genetic conditions and syndromes:
- X-linked Hyper IgM Syndrome – A rare immunodeficiency disorder characterized by low levels of immunoglobulin class-switched antibodies.
Testing for changes in the CD40LG gene may be performed to aid in the diagnosis of X-linked Hyper IgM Syndrome. Additional genetic testing may be recommended based on the specific symptoms and clinical presentation of the individual.
Information about the CD40LG gene can be found in various genetic references and databases, such as OMIM (Online Mendelian Inheritance in Man) and PubMed.
Further scientific articles and research papers may provide additional information on the role of this gene in various diseases and health conditions.
In summary, the CD40LG gene, also known by other names, is involved in X-linked Hyper IgM Syndrome and plays a role in immunoglobulin class switching. It can be researched further through genetic references, databases, and scientific articles.
Additional Information Resources
Here are some additional resources for finding information related to the CD40LG gene and related conditions:
- OMIM database: The Online Mendelian Inheritance in Man (OMIM) database provides information on genetic diseases and the genes associated with them. You can search for the CD40LG gene in this database to find more information about it.
- PubMed: PubMed is a free database of scientific articles. You can search for articles related to CD40LG and its function using keywords such as “CD40LG gene” or “CD40LG protein.”
- GeneTests: GeneTests is a genetic testing registry that provides information on genetic tests and laboratories that offer them. You can search for CD40LG testing in this registry to find labs that offer testing for this gene.
- Hyper-IgM Syndrome: Hyper-IgM syndrome is a genetic condition caused by mutations in the CD40LG gene. You can find more information about this syndrome and its genetic causes from resources dedicated to this condition.
- Catalog of Human Genetic Diseases: This catalog provides an extensive list of genetic diseases and the genes associated with them. You can search for CD40LG and related conditions in this catalog to find more information.
- Protein databases: There are several databases that provide information on proteins and their functions. You can search for CD40LG protein in these databases to find more information about its structure and function.
- Genetic variants: If you are interested in specific genetic variants of the CD40LG gene, you can search for them in databases that list genetic variants, such as ClinVar or the Human Gene Mutation Database (HGMD).
These resources can provide you with additional information on the CD40LG gene, testing options, related conditions, and other genetic diseases.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a database that provides information about genetic tests for various syndromes and conditions. It includes references to scientific articles, databases, and other resources related to genetic testing.
One of the syndromes listed in the GTR is the CD40LG gene-related syndrome, also known as X-linked hyper-IgM syndrome. This syndrome is characterized by changes in the CD40LG gene, which codes for a receptor protein involved in the immune system.
The GTR lists several tests for this syndrome, including tests for changes in the CD40LG gene, tests for CD40L protein variants, and tests for other related genes. These tests can help in making a genetic diagnosis for individuals with X-linked hyper-IgM syndrome.
In addition to the CD40LG gene-related syndrome, the GTR also lists tests for other syndromes and conditions. These include central hypogonadotropic hypogonadism, Wiskott-Aldrich syndrome, and many others. The GTR provides information on the genetic changes, clinical features, and testing methodologies for these conditions.
References to scientific articles and databases such as OMIM and PubMed are included in the GTR for further information on genetic testing for these syndromes. The GTR serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic testing and related genes.
In summary, the Genetic Testing Registry provides a catalog of tests for various syndromes and conditions, including the CD40LG gene-related syndrome. It includes information on genetic changes, testing methodologies, and related genes. The GTR serves as an important resource for the scientific and medical community in the field of genetic testing.
Scientific Articles on PubMed
Health conditions related to the CD40LG gene can be found in scientific articles available on PubMed. PubMed is a central database for scientific articles and provides a wealth of information on various diseases, genetic changes, and testing methods.
CD40LG is an abbreviation for the CD40 ligand gene, located on the X chromosome. The gene encodes the CD40 ligand protein, which is involved in the immune response and the production of immunoglobulin (IgM) proteins.
Several genetic syndromes are associated with mutations in the CD40LG gene, including X-linked hyper-IgM syndrome. This syndrome is characterized by a class switch defect, resulting in decreased levels of IgG, IgA, and IgE immunoglobulins.
The CD40LG gene is listed in various genetic databases, such as OMIM (Online Mendelian Inheritance in Man) and the Genetic Testing Registry. These databases provide additional information on the gene, its variants, and associated diseases.
Scientific articles on PubMed can provide valuable references for researchers and healthcare professionals interested in studying the CD40LG gene and related conditions. The articles may discuss the genetic changes, testing methods, and receptor interactions associated with the CD40LG gene.
By conducting a search on PubMed using the keywords “CD40LG gene,” researchers can access a catalog of scientific articles and gain a better understanding of the genetic variations and their impact on health.
Additionally, PubMed provides resources to explore other genes and genetic syndromes related to hyper-IgM syndrome and the CD40LG gene. This includes information on other X-linked genetic syndromes and changes in the immune response.
In conclusion, scientific articles on PubMed offer a wealth of information on the CD40LG gene, its associated diseases, and related genes. Researchers and healthcare professionals can use these articles to expand their knowledge and explore the field of genetics and immunology.
Catalog of Genes and Diseases from OMIM
The OMIM database provides a comprehensive catalog of genes and diseases by making genetic information and related resources accessible to the scientific community and health professionals. It serves as a valuable tool for testing and diagnosing genetic conditions.
The CD40LG gene listed in OMIM is associated with the X-linked hyper-IgM syndrome, a rare immunodeficiency disorder. This gene encodes the CD40 ligand protein, which plays a crucial role in the activation of B cells and the class switch of immunoglobulin genes.
In addition to the CD40LG gene, OMIM also includes information on other genes involved in various syndromes and diseases. The database provides references to scientific articles, PubMed links, and registry information for each gene and associated condition.
For the X-linked hyper-IgM syndrome, OMIM provides detailed information on the genetic changes that can cause this condition, testing resources, and additional diagnostic tests that can be performed to confirm the diagnosis.
The OMIM database is organized in a user-friendly manner, allowing users to search for genes and diseases by name, class, and other related keywords. The information is presented in a tabular format, making it easy to navigate and retrieve the desired information.
OMIM serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information on genetic diseases and syndromes. It provides a comprehensive and up-to-date catalog of genes and associated diseases, aiding in the understanding and diagnosis of various genetic conditions.
Overall, the OMIM database plays a crucial role in advancing genetic research and improving patient care by providing a centralized and comprehensive repository of genetic information.
Gene and Variant Databases
Genetic testing is making significant changes in the way we understand and diagnose various medical conditions. The CD40LG gene and its variants play a crucial role in the immune system’s functioning and are often associated with a range of diseases and syndromes.
Several databases provide valuable information on the CD40LG gene and its associated variants. These databases compile and curate scientific articles, references, and genetic test results to create a central repository of knowledge.
- OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that lists genes associated with various genetic diseases and conditions. It provides detailed information on the CD40LG gene and its variants, including the X-linked hyper-IgM syndrome resulting from mutations in this gene.
- PubMed: PubMed is a vast collection of scientific articles and references. It contains a wealth of information on the CD40LG gene, its variants, and their implications in different health conditions.
- Genetic testing databases: Various genetic testing laboratories maintain their own databases that contain information on genetic variants, including those of the CD40LG gene. These databases serve as resources for healthcare professionals and researchers involved in genetic testing.
- Registry of Genes and Genetic Variants: This database includes a comprehensive catalog of genes and their variants associated with different diseases and syndromes. It serves as a reference for physicians and researchers interested in understanding the genetic basis of health conditions.
In addition to these databases, there are other resources available that provide information on CD40LG gene variants. These resources include online articles, health websites, and scientific publications that discuss the role of CD40LG variants in different health conditions.
Overall, gene and variant databases are invaluable tools for researchers and healthcare professionals involved in understanding and diagnosing genetic disorders. They provide a centralized and comprehensive source of information on the CD40LG gene and its variants, facilitating further research and improving clinical outcomes.
References
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Testing for CD40LG Gene Variants
X-Linked Hyper-IgM Syndrome. GeneTests. Available at: http://www.ncbi.nlm.nih.gov/sites/GeneTests/lab/clinical_disease_id/20710?db=genetests. Accessed August 21, 2021.
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Catalog of CD40LG-Related Immunodeficiency Syndromes
CD40 LG-related immunodeficiency. Genetic and Rare Diseases Information Center (GARD). Available at: https://rarediseases.info.nih.gov/genes/785/cd40lg. Accessed August 21, 2021.
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Additional Resources on CD40LG Gene
Articles on CD40LG gene. PubMed. Available at: https://pubmed.ncbi.nlm.nih.gov/?term=cd40lg+gene. Accessed August 21, 2021.
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Information on CD40LG Gene and X-Linked Hyper-IgM Syndrome
X-linked Hyper IgM Syndrome. The Immune Deficiency Foundation (IDF). Available at: https://primaryimmune.org/about-primary-immunodeficiencies/specific-disease-types/x-linked-hyper-igm-syndrome/. Accessed August 21, 2021.
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Centralized Information and Resources on CD40LG Gene
CD40 Ligand Deficiency. National Organization for Rare Disorders (NORD). Available at: https://rarediseases.org/rare-diseases/cd40-ligand-deficiency/. Accessed August 21, 2021.