The NFKBIA gene encodes a protein called nuclear factor kappa-B inhibitor alpha (NF-κBIA), which is involved in the regulation of immune response and inflammation. This gene is expressed in various immune tissues and plays a critical role in controlling the activity of the nuclear factor-kappa-B (NF-κB) signaling pathway.
Deficiency of the NFKBIA gene can lead to immune dysregulation and immunodeficiency. Scientific resources such as databases, like Online Mendelian Inheritance in Man (OMIM), provide information about specific genetic changes associated with NFKBIA deficiency. Additionally, there are other references and articles available on PubMed, which discuss the testing, diagnosis, and treatment of diseases related to NFKBIA gene.
The NFKBIA gene is often listed in genetic testing catalogs and registries along with other genes involved in immunodeficiency and ectodermal diseases.
One variant of NFKBIA deficiency is anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID), which is a rare genetic disorder characterized by abnormal development of ectodermal tissues and immunodeficiency. Testing for NFKBIA gene variations can provide additional information for diagnosis and treatment planning.
Research on NFKBIA gene and related genes provides important insights into the molecular mechanisms underlying immunodeficiency and the role of NF-κB pathway in immune function. Understanding the function and regulation of NFKBIA gene can contribute to the development of potential therapeutic strategies for immunodeficiency and related diseases.
Health Conditions Related to Genetic Changes
Genes play a critical role in maintaining the proper functioning of the immune system. Genetic changes in the NFKBIA gene, which encodes a protein called nuclear factor-kappa-B inhibitor alpha, can have significant implications for health.
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Changes in the NFKBIA gene can lead to a variety of immune-related conditions. Some of these conditions include:
- Anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID): This rare genetic disorder affects multiple systems, including the immune system. It is characterized by abnormal development of ectodermal tissues, leading to symptoms such as sparse hair, missing teeth, and recurrent infections.
- Other immunodeficiency conditions: Genetic changes in the NFKBIA gene can result in immunodeficiency, where the immune system is unable to effectively protect the body from infections. These conditions may increase the risk of recurrent infections and other immune-related problems.
Testing for genetic changes in the NFKBIA gene can be performed to diagnose these health conditions. There are various scientific databases and resources available, such as the EDA-ID Registry and PubMed, where additional information, articles, and references about these genes and related diseases can be found.
It is important for individuals with symptoms or a family history of these conditions to consult with healthcare professionals and undergo genetic testing. Identifying genetic changes can provide valuable insights into the underlying causes of these health conditions and help guide appropriate treatment strategies.
Anhidrotic ectodermal dysplasia with immune deficiency
Anhidrotic ectodermal dysplasia with immune deficiency (EDA-ID) is a rare genetic disorder characterized by abnormalities in the development of ectodermal tissues, as well as immune deficiency. It is also known as “dysplasia” or “eda-id”.
EDA-ID is caused by mutations in the NFKBIA gene, which is responsible for encoding a protein called nuclear factor-kappa-B inhibitor alpha (NFKBIA). This protein is involved in regulating the immune response and plays a role in a variety of cellular processes.
Individuals with EDA-ID may have additional symptoms, including abnormal hair growth, missing or malformed teeth, and absence or dysfunction of sweat glands, leading to the inability to sweat. These individuals also have immune deficiencies, making them more susceptible to infections.
Diagnosis of EDA-ID is typically done through genetic testing, which can detect changes or variants in the NFKBIA gene. Additional tests may also be performed to assess the specific immune deficiencies in affected individuals.
Information on EDA-ID and other related diseases can be found in scientific articles and databases such as PubMed, OMIM, and the Genetic and Rare Diseases Information Center (GARD). The International Ectodermal Dysplasia Registry is also a valuable resource for individuals seeking more information or support.
Research on EDA-ID is ongoing, and advancements in understanding the underlying genetic and immunological mechanisms are being made. This information can contribute to the development of better diagnostic tools and potential treatment options for individuals with EDA-ID.
References:
- Puel, A., & Picard, C. (2005). The growing family of primary immunodeficiency diseases. Pediatrics, 117(4), 1279-1286.
- NFKBIA gene – Genetics Home Reference – NIH. (n.d.). Retrieved from https://ghr.nlm.nih.gov/gene/NFKBIA
- NFKBIA – Nuclear factor-kappa-B inhibitor alpha – Homo sapiens (Human) – NFKBIA gene & protein. (n.d.). Retrieved from https://www.uniprot.org/uniprot/P25963
Other Names for This Gene
The NFKBIA gene is also known by other names:
- I-kappa-B-alpha gene
- I-kappa-B-alpha genetic and nuclear factor-kappa-B
- I-kappa-B-alpha
- IkappaBalpha
- EDAI-D
These alternative names for the NFKBIA gene are used in scientific articles and databases to refer to the same genetic information. They provide additional references and resources for researchers and health professionals.
Some related genes and conditions that are associated with NFKBIA include:
- Ectodermal dysplasia with immune deficiency
- Anhidrotic ectodermal dysplasia with immunodeficiency
Genetic testing and other health tests may refer to NFKBIA by its alternative names. It is important to be aware of these variations when searching for information on this gene.
Catalogs and databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed list changes and mutations in the NFKBIA gene. The registry for NFKBIA deficiency also provides information on this gene and related diseases and conditions.
| Gene | Condition |
|---|---|
| NFKBIA | Ectodermal dysplasia with immune deficiency |
In summary, the NFKBIA gene has multiple names that are used in scientific literature, genetic testing, and databases. These alternative names provide valuable information and resources for studying the gene and its associated conditions.
Additional Information Resources
For additional information on the NFKBIA gene and related genetic conditions, the following resources may be helpful:
- OMIM – Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. The entry for the NFKBIA gene provides detailed information on the gene, its variant forms, and associated diseases.
- PubMed – PubMed is a database of scientific articles from various disciplines. Searching for “NFKBIA gene” or related terms can provide access to research articles on the gene and its role in various diseases.
- Ectodermal Dysplasia Anhidrotic Immunodeficiency (EDA-ID) Registry – The EDA-ID Registry is a resource for individuals and families affected by EDA-ID and related conditions. It provides information on the genetic causes of EDA-ID, available tests for diagnosis, and resources for managing the condition.
- EDA-ID-NF-kB-related Disorders Registry – This registry focuses specifically on EDA-ID and related disorders caused by NF-kB deficiency. It provides information on clinical features, genetic testing, and available treatments.
- National Center for Biotechnology Information (NCBI) Gene – The NCBI Gene database provides comprehensive information on genes, including NFKBIA. It includes data on the gene’s structure, function, expression in different tissues, and interactions with other proteins.
- Genetic Testing – Genetic testing laboratories may offer tests for mutations in the NFKBIA gene. Consulting with a medical professional or genetic counselor can provide more information on available testing options and their implications.
- Ectodermal Dysplasia Society – The Ectodermal Dysplasia Society is a non-profit organization that provides support and resources for individuals and families affected by ectodermal dysplasia conditions, including EDA-ID.
- Health Condition Information Websites – Websites such as Mayo Clinic, MedlinePlus, and Genetics Home Reference provide information on various health conditions, including those related to NF-kB signaling pathway defects.
Please note that the references listed above are not exhaustive, and there may be additional resources available online or in scientific databases for further exploration.
Tests Listed in the Genetic Testing Registry
Genetic testing is an important tool in the diagnosis and management of various genetic conditions. In the case of the NFKBIA gene, testing plays a crucial role in understanding and diagnosing related conditions.
The NFKBIA gene is associated with ectodermal dysplasia with immune deficiency, also known as EDA-ID. This condition is characterized by abnormalities in ectodermal tissues and defects in the immune system. Genetic testing can identify changes or variants in the NFKBIA gene that are responsible for these conditions.
In the Genetic Testing Registry, there are several tests listed for the NFKBIA gene. These tests are designed to identify mutations or variants in the gene that may be associated with ectodermal dysplasia with immune deficiency and related conditions.
The tests listed in the registry include:
- Genetic Testing for NFKBIA Gene
- NFKBIA Gene Mutation Analysis
- NFKBIA Gene Sequence Analysis
- NFKBIA Gene Deletion/Duplication Analysis
These tests provide valuable information for healthcare professionals and individuals who are at risk of or have been diagnosed with conditions related to the NFKBIA gene.
Additional resources, such as articles and references, can be found in scientific databases like OMIM, PubMed, and the Genetic Testing Registry. These resources provide further information on the NFKBIA gene, its associated diseases, and changes or variants in the gene that may contribute to these conditions.
In conclusion, genetic testing for the NFKBIA gene plays a crucial role in diagnosing and managing conditions related to ectodermal dysplasia with immune deficiency. The Genetic Testing Registry provides a comprehensive list of tests available for the NFKBIA gene, along with additional scientific resources for further information and research.
Scientific Articles on PubMed
There are several scientific articles available on PubMed related to the NFKBIA gene. PubMed is a database that provides access to a large collection of scientific articles and references on various topics.
- Anhidrotic ectodermal dysplasia with immune deficiency – This article discusses the link between the NFKBIA gene and anhidrotic ectodermal dysplasia with immune deficiency. It provides information on the genetic changes in the NFKBIA gene that cause this condition.
- Testing for NFKBIA gene variants in immune conditions – This article explores the use of genetic testing for NFKBIA gene variants in diagnosing immune conditions. It discusses the importance of identifying mutations in this gene to understand the underlying causes of immune deficiency and related diseases.
- Nuclear factor-kappa-B and its role in immune response – This article examines the function of the NFKBIA gene and its protein product, nuclear factor-kappa-B, in regulating immune response. It provides insights into the molecular mechanisms involved in immune system regulation and the potential implications for the development of therapeutic interventions.
These are just a few examples of the scientific articles available on PubMed related to the NFKBIA gene. There are additional resources and databases, such as OMIM and the Genetic Testing Registry, that list more articles and information on genes, diseases, and health conditions associated with NFKBIA.
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases. It is a valuable resource for researchers, scientists, and medical professionals involved in the study and diagnosis of genetic disorders.
The NFKBIA gene is listed in the OMIM database. This gene encoding the nuclear factor-kappa-B inhibitor alpha (NFKBIA), is associated with various conditions and diseases including ectodermal dysplasia with immune deficiency (EDA-ID).
The OMIM catalog provides additional information on the NFKBIA gene, including names and aliases, protein-related information, and changes associated with the gene. It also lists other genes related to ectodermal dysplasia and immune deficiency.
OMIM is a reliable and scientific resource for genetic testing laboratories and healthcare professionals, offering a wealth of information on genes and diseases. It serves as a registry of genetic conditions and genes, providing a convenient reference for researchers and clinicians.
For further information on the NFKBIA gene and related conditions, OMIM references articles from scientific journals and databases such as PubMed. This ensures that the catalog remains up to date with the latest research in the field.
Overall, the OMIM catalog is an invaluable resource for the study of genetic diseases, providing comprehensive information on genes, diseases, and related conditions. It serves as a centralized hub for researchers and healthcare professionals seeking accurate and up-to-date information in the field of genetics.
Gene and Variant Databases
Gene and variant databases are important resources for researchers and healthcare professionals working with the NFKBIA gene. These databases provide information about the different tests, variants, and mutations associated with the gene, as well as the related diseases and conditions.
PubMed is a commonly used database for scientific articles and references on the NFKBIA gene, its variants, and related diseases. It is a valuable resource for finding up-to-date information on the latest research findings.
The OMIM database (Online Mendelian Inheritance in Man) provides comprehensive information on genetic causes of diseases and related genes. It includes names, descriptions, and references to scientific articles for the NFKBIA gene and associated conditions such as ectodermal dysplasia with immunodeficiency (EDA-ID).
The Nuclear Factor-kappa-B Subunit Alpha (NFKBIA) gene is listed in the GeneReviews database, which provides detailed information on genetic disorders. This resource includes clinical descriptions, testing information, and management guidelines for NFKBIA gene deficiency disorders.
The EDA-ID registry is a specialized database for the Ectodermal Dysplasia with Immunodeficiency (EDA-ID) condition. It includes information on genetic changes, proteins involved, testing options, and additional resources for individuals affected by this condition.
The Disease Gene Identification (DisGeNET) database is a comprehensive catalog of genes and their associations with diseases. It provides information on the role of the NFKBIA gene in various immune-related diseases and conditions.
Other gene and variant databases may also contain information on the NFKBIA gene, mutations, and related diseases. These resources are valuable for researchers, healthcare professionals, and individuals seeking information and testing options.
| Database | Description |
|---|---|
| PubMed | A database of scientific articles and references |
| OMIM | Online Mendelian Inheritance in Man |
| GeneReviews | Database of genetic disorders |
| EDA-ID registry | Database specific to Ectodermal Dysplasia with Immunodeficiency |
| DisGeNET | Catalog of genes and their associations with diseases |
These databases provide a wealth of information on the NFKBIA gene, its variants, and related diseases. They are valuable resources for researchers, healthcare professionals, and individuals seeking to learn more about the health implications of NFKBIA gene mutations and potential testing options.
References
- Database resources
- Genetic Testing Registry (GTR)
- OMIM (Online Mendelian Inheritance in Man)
- EDAR-ID (Ectodysplasin A Receptor-Interacting Protein-Deficiency)
- Articles on NFKBIA gene
- PubMed – Articles on NFKBIA gene
- Scientific literature on NFKBIA gene
- Information on related genes and proteins
- OMIM – Information on genes and proteins
- Changes in the NFKBIA gene
- Genetic changes in NFKBIA gene
- Health conditions related to the NFKBIA gene
- Conditions related to NFKBIA gene
- Additional resources
- Registry for NFKBIA gene
- Ectodermal dysplasia registry