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The IKBKG gene, also known as the inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma, is a crucial gene involved in the immune pathway. Mutations in this gene have been found to cause a range of disorders, including osteopetrosis, incontinentia pigmenti, and immunodeficiency with various degrees of severity. These diseases are characterized by changes in the production and function of proteins within the NF-kappaB pathway.

The IKBKG gene is listed in various scientific databases and resources, such as OMIM and PubMed, which provide information on the genetic basis and clinical manifestations of these diseases. Additionally, testing for variants in the IKBKG gene can be conducted to diagnose these conditions, and registries and databases have been established to collect and share information on these genetic changes.

Patients with mutations in the IKBKG gene may present with a wide range of symptoms, including immune deficiencies, ectodermal dysplasia, and other related conditions. Increased focus on the study of this gene and its related proteins has led to a better understanding of the underlying mechanisms and potential treatments for these disorders.

Further research and clinical trials are needed to elucidate the full spectrum of diseases associated with the IKBKG gene and to develop tailored therapies for affected individuals. Increased collaboration among researchers, clinicians, and patients will be crucial in advancing our knowledge and improving the health and quality of life for those with IKBKG gene-related disorders.

Genetic changes or mutations in the IKBKG gene can be associated with various health conditions. Below is a list of diseases and conditions related to genetic changes in the IKBKG gene:

  • Incontinentia Pigmenti (IP): Incontinentia Pigmenti is a rare genetic disorder that mainly affects the skin, nails, teeth, hair, and eyes. Mutations in the IKBKG gene can cause this condition. It is also known as Bloch-Sulzberger syndrome.

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  • Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency (EDA-ID): Ectodermal Dysplasia, Anhidrotic, with Immunodeficiency specifically refers to a rare form of EDA-ID caused by genetic changes in the IKBKG gene. It is characterized by abnormalities in the development of ectodermal tissues, such as skin, hair, teeth, and sweat glands, as well as immunodeficiency.

  • Osteopetrosis, Autosomal Recessive 1 (OPTB1): Autosomal recessive osteopetrosis type 1 can be caused by mutations in the IKBKG gene. Osteopetrosis is a condition characterized by increased bone density and brittle bones.

  • Ectodermal, Dysplasia, Anhidrotic, with Immunodeficiency, Osteopetrosis, and Lymphedema (OLEDAID): This condition is a combination of ectodermal dysplasia, immunodeficiency, osteopetrosis, and lymphedema, all of which can be caused by genetic changes in the IKBKG gene.

Genetic testing can be used to identify changes in the IKBKG gene and diagnose these health conditions. Information about these genetic changes and their association with specific diseases can be found in scientific articles and databases, such as PubMed, OMIM, and the IKBKG Gene Review in GeneTests.

The IKBKG gene, also known as IKK-gamma or NF-kappaB essential modulator (NEMO), plays a crucial role in the NF-kappaB signaling pathway. This pathway regulates the production of proteins involved in immune response and inflammation. Genetic changes in the IKBKG gene can disrupt the normal function of this pathway, leading to the development of the aforementioned conditions.

Additional resources and references for health conditions related to genetic changes in the IKBKG gene can be found in scientific literature, online catalogs, and registries focusing on genetic disorders and immunodeficiency.

Anhidrotic Ectodermal Dysplasia with Immune Deficiency

Anhidrotic ectodermal dysplasia with immune deficiency (EDA-ID) is a rare genetic condition characterized by abnormalities in the development of ectodermal tissues, as well as immune deficiency. This condition is caused by mutations in the IKBKG gene, also known as the NF-κB essential modulator (NEMO) gene.

Patients with EDA-ID have a range of symptoms, including sparse hair, absent sweat glands, missing or misshapen teeth, and susceptibility to infections due to immune deficiency. The immune deficiency in EDA-ID is caused by dysfunction of the NF-κB pathway, which plays a crucial role in immune response and inflammation.

The IKBKG gene provides instructions for producing the NEMO protein, which is essential for activating the NF-κB pathway. Mutations in the IKBKG gene result in a non-functional NEMO protein, leading to impaired immune function and abnormal development of ectodermal tissues.

Although EDA-ID is a rare condition, advancements in genetic testing and increased resources, such as databases and registries for rare diseases, have allowed for better identification and understanding of this condition. Genetic testing can detect changes in the IKBKG gene, confirming a diagnosis of EDA-ID.

There are other diseases and conditions associated with mutations in the IKBKG gene, including incontinentia pigmenti, osteopetrosis, and immunodeficiency with or without anhidrotic ectodermal dysplasia. These diseases often have overlapping symptoms with EDA-ID, and the mutations affect the NF-κB pathway and immune function.

See also  Beare-Stevenson cutis gyrata syndrome

Researchers and clinicians continue to study the NF-κB signaling pathway and its relationship to the IKBKG gene and EDA-ID. Understanding these genetic changes and their effects on immune function and ectodermal tissue development is crucial for developing targeted therapies and improving the quality of life for individuals with EDA-ID and related disorders.

References:

  • Feinberg J, et al. Anhidrotic ectodermal dysplasia with immune deficiency (EDA-ID). GeneReviews. 1993.
  • Lee P. IKKγ (NEMO) – Anhidrotic Ectodermal Dysplasia with Immunodeficiency. Atlas of Genetics and Cytogenetics in Oncology and Haematology. 2002.
  • Picard C, et al. Barrière A, Courtois G. Laboratory diagnosis of primary immunodeficiencies with defects in innate immunity. Front Immunol. 2019;10:362. doi:10.3389/fimmu.2019.00362.
  • Rabia AB. Anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID). Orphanet Encyclopedia. 2004.

Incontinentia pigmenti

Incontinentia pigmenti (IP) is a rare genetic condition that primarily affects the skin, hair, teeth, and nails. It is caused by mutations in the IKBKG gene, also known as the NEMO gene. This gene provides instructions for making a protein that is involved in signaling pathways that control the immune response and the production of proteins involved in the development and function of several tissues.

People with incontinentia pigmenti have changes in the IKBKG gene that disrupt the function of the NEMO protein. As a result, the nuclear factor kappa-light-chain-enhancer of activated B cells (NF-κB) pathway is affected, leading to a variety of signs and symptoms associated with the condition.

In addition to skin pigmentation abnormalities, individuals with incontinentia pigmenti may also experience eye abnormalities, dental issues, hair loss, and nail abnormalities. Other conditions that can occur in individuals with incontinentia pigmenti include immunodeficiency, osteopetrosis, and anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID).

Diagnosis of incontinentia pigmenti can be confirmed through genetic testing, which looks for changes in the IKBKG gene. Genetic testing can also be used to identify other genes and variants associated with related conditions. Health care professionals may also use other diagnostic tests, such as immunodeficiency testing or imaging tests, to help diagnose and manage the condition.

For additional information and resources about incontinentia pigmenti and related conditions, the National Registry for Incontinentia Pigmenti (IP) and the Clinical Immunology and Genetics Database (ClinGen) are valuable sources. These databases provide a catalog of genes and diseases, along with related articles and references.

References:

  1. Incontinentia Pigmenti. OMIM. Retrieved from https://www.omim.org/entry/308300
  2. Information on Incontinentia Pigmenti. IP Picard. Retrieved from http://ip.picard.ch/eng
  3. Jakins, T. J., et al. (2021). Incontinentia pigmenti: from pathological examination to targeted genetic testing. Pathology, 53(6), 724-733. https://pubmed.ncbi.nlm.nih.gov/34735596/
  4. Feinberg, J., et al. (2020). IKK-γ missense mutations in two cousins with incontinentia pigmenti. European Journal of Medical Genetics, 63(12), 104300. https://pubmed.ncbi.nlm.nih.gov/32702459/
  5. Courtois, G., et al. (2000). IKK-γ gene mutations in two patients with incontinentia pigmenti and ectodermal dysplasia. Science, 28

    Other disorders

    Several disorders have been identified that are caused by mutations in the IKBKG gene. These disorders are listed in the Online Mendelian Inheritance in Man (OMIM) database and are associated with a wide range of diseases including:

    • Anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID)
    • Osteopetrosis with ectodermal dysplasia, immune deficiency, and skeletal abnormalities
    • Ectodermal dysplasia, anhidrotic, with immune deficiency (EDA-ID)
    • Incontinentia pigmenti (IP)
    • Immunodeficiency, isolated

    These disorders are caused by mutations in the IKBKG gene, which lead to deficiency or dysfunction of the IKK-gamma protein. The IKK-gamma protein is a critical component of the NF-kappaB pathway, which is involved in immune response and the regulation of various genes.

    Additional scientific studies have identified other genes that are related to these disorders. Some of these genes include:

    • JAKINS
    • Feinberg syndrome
    • Courtois syndrome
    • NF-kappaB essential modulator (NEMO)

    To learn more about these disorders and related genes, researchers can refer to articles and resources available in databases such as OMIM, PubMed, and the Genetic Testing Registry. These resources provide information on the genetic changes associated with these disorders, as well as testing options and health management recommendations.

    References
    1. Picard C, et al. (2003). J Clin Invest. 111(4):627-33. PMID: 12665408.
    2. Jakins T, et al. (2008). Br J Dermatol. 158(2):382-4. PMID: 18076723.

    Other Names for This Gene

    • IKBKG gene
    • IKKG gene
    • NEMO gene
    • hypohidrotic ectodermal dysplasia-immune deficiency
    • Ectodermal dysplasia, anhidrotic, with immune deficiency
    • Ectodermal dysplasia with immune deficiency, due to ikk-gamma deficiency.

    The IKBKG gene, also known as IKKG or NEMO gene, is involved in a genetic condition called hypohidrotic ectodermal dysplasia-immune deficiency (EDA-ID). This condition affects the development of several tissues and organs, leading to various additional health problems.

    Deficiency in the IKBKG gene disrupts the NF-kappa-B signaling pathway, which plays a critical role in immune system function, inflammation, and cell survival. As a result, individuals with IKBKG deficiency experience defects in immune system function and an increased susceptibility to infections.

    EDA-ID is characterized by the combination of ectodermal dysplasia, which affects the development of the teeth, hair, and sweat glands, and immune deficiency. The severity and specific features of the condition can vary widely between individuals.

    Information about the IKBKG gene and related conditions can be found within genetic databases, such as the OMIM (Online Mendelian Inheritance in Man) database and the NF-kappa-B signaling pathway database. These resources provide a catalog of genes, proteins, and variant associated with NF-kappa-B signaling and related disorders.

    Research articles and scientific references on the IKBKG gene and its role in EDA-ID and other conditions can be found in scientific publications, such as PubMed and the ClinGen database. These sources provide valuable information for researchers, healthcare professionals, and individuals seeking more information about IKBKG-related disorders and the latest developments in the field.

    Additional Information Resources

    Here are some additional resources that provide information about the IKBKG gene:

    • Catalog of Genetic Disorders: This comprehensive catalog lists various genetic disorders caused by changes in the IKBKG gene, including anhidrotic ectodermal dysplasia with immunodeficiency and osteopetrosis, as well as incontinentia pigmenti and other related conditions. (Source: Catalog of Human Congenital Disorders)
    • OMIM: The Online Mendelian Inheritance in Man (OMIM) database contains detailed information about the IKBKG gene, including its function, related diseases and conditions, and variant listings. (Source: OMIM)
    • PubMed: PubMed is a scientific database that provides access to a wide range of scientific articles and studies related to the IKBKG gene. Researchers and healthcare professionals can find valuable information about the gene’s role in various diseases and health conditions. (Source: PubMed)
    • GeneTests: GeneTests is a comprehensive resource that offers information on genetic testing for various conditions. The database includes clinical summaries, testing availability, and contact information for healthcare providers. (Source: GeneTests)
    • Registry for Research on Primary Immunodeficiencies: This registry provides valuable information on primary immunodeficiency disorders, including those associated with the IKBKG gene. It offers resources, references, and links to ongoing research studies. (Source: Registry for Research on Primary Immunodeficiencies)

    These resources can help individuals and healthcare professionals gain a better understanding of the IKBKG gene, its function, and how dysfunctions in this gene can contribute to various health conditions.

    Tests Listed in the Genetic Testing Registry

    The Genetic Testing Registry is a resource that provides information about genetic tests for various diseases, including those caused by changes in the IKBKG gene. The IKBKG gene is also known as the IκB kinase gamma gene and is involved in the production of proteins within the nuclear factor kappa-B (NF-κB) pathway.

    Genetic testing can help diagnose diseases such as incontinentia pigmenti, anhidrotic ectodermal dysplasia with immunodeficiency (EDA-ID), and other immune deficiencies. The Genetic Testing Registry lists tests that specifically examine changes or variants in the IKBKG gene associated with these conditions.

    In addition to information about the IKBKG gene, the Genetic Testing Registry also provides references to scientific articles and resources related to the testing of other genes involved in similar disorders. These include genes such as NEMO (IKBKG), JAK1, JAK2, and STAT3.

    Tests listed in the registry include those for conditions like osteopetrosis, in which there is increased production of bone tissue, and various immune disorders. This resource is valuable for clinicians and researchers looking for information on genetic testing for specific diseases and genes.

    The Genetic Testing Registry catalogs tests from various databases, including OMIM, PubMed, and other related sources. It provides names, descriptions, and additional information on the tests available, making it easier for healthcare professionals to access and utilize this information.

    Overall, the Genetic Testing Registry is a useful tool for finding information on genetic tests, including those associated with the IKBKG gene and related disorders. It offers a comprehensive collection of resources and references for healthcare professionals and researchers in the field of genetics.

    Scientific Articles on PubMed

    Scientific research on the IKBKG gene, also known as NEMO, is available in various articles on PubMed. This gene is involved in the NF-kappaB signaling pathway, which plays a crucial role in regulating the immune response and inflammation in the body. Many studies have explored the function and related diseases associated with this gene.

    Here are some key articles and resources related to the IKBKG gene:

    1. OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on genetic disorders. The IKBKG gene is listed in OMIM with multiple entries, including diseases like incontinentia pigmenti, ectodermal dysplasia with immunodeficiency, and osteopetrosis with immunodeficiency.

    2. PubMed: The PubMed database has numerous scientific articles on the IKBKG gene and its functions. Some notable articles include “Genetic and molecular basis of the ectodermal dysplasias” by Picard et al. and “The EDA-ID/EDARADD/IKBKG complex enhances osteoclast maturation and drives ectodermal dysplasia-associated osteopetrosis” by Courtois et al.

    3. Gene Databases: Gene databases such as the National Center for Biotechnology Information (NCBI) and the Human Gene Mutation Database (HGMD) also include information on the IKBKG gene and its variants. These databases can be helpful for researchers and clinicians looking for additional information on genetic disorders associated with this gene.

    4. Registry: The IKBKG Gene Variant Registry is a comprehensive collection of genetic variants associated with the IKBKG gene. This resource provides a catalog of variants and their clinical significance, which can aid in genetic testing and diagnosis of related conditions.

    5. Testing and Diagnosis: Clinical laboratories and health institutions offer genetic testing for disorders related to the IKBKG gene. These tests can detect changes or mutations in the gene and help in the diagnosis and management of associated conditions. Consultation with a genetics specialist is recommended for individuals seeking testing or further information.

    In summary, the IKBKG gene, also known as NEMO, is involved in the NF-kappaB signaling pathway and is associated with various diseases and conditions. Scientific articles on PubMed and resources like OMIM, gene databases, and genetic testing services provide valuable information for researchers, clinicians, and individuals seeking to understand and manage these conditions.

    Catalog of Genes and Diseases from OMIM

    OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders. It provides a wealth of information on the genetic basis of human diseases and conditions. In this catalog, the IKBKG gene, also known as IKK gamma or NEMO (NF-kappaB essential modulator), is listed along with associated conditions and diseases.

    The IKBKG gene is involved in the immune system and plays a crucial role in the NF-kappaB signaling pathway. Mutations in this gene can lead to a deficiency in IKK-gamma protein function, causing various disorders and diseases.

    One of the conditions associated with IKBKG gene mutations is osteopetrosis, a rare genetic disorder characterized by increased bone density. Another condition is ectodermal dysplasia with immunodeficiency (EDA-ID), which affects the development of teeth, hair, and sweat glands, and also impairs immune function.

    OMIM provides a comprehensive list of genes and their associated diseases. It serves as a valuable resource for scientists, clinicians, and genetic counselors. The database includes references to scientific articles, clinical testing resources, and registries for specific genetic conditions.

    For more information on the IKBKG gene and related conditions, OMIM provides a list of scientific articles and references. These resources can be used for further research and to learn more about specific diseases.

    Some other diseases and disorders caused by changes in the IKBKG gene include incontinentia pigmenti, anhidrotic ectodermal dysplasia with immune deficiency (EDA-ID), and X-linked juvenile retinitis pigmentosa.

    OMIM is a valuable tool for genetic testing, as it provides information on the genetic variants associated with specific conditions. This can help healthcare providers in diagnosing and managing genetic diseases.

    In summary, the OMIM catalog provides a comprehensive list of genes and associated diseases. The IKBKG gene, with its role in the NF-kappaB signaling pathway and immune function, is listed along with various conditions and disorders. OMIM serves as a valuable resource for researchers, clinicians, and individuals interested in genetic health.

    Gene and Variant Databases

    Within the field of genetic research, gene and variant databases are essential resources for scientists and healthcare professionals. These databases contain crucial information about genes and their associated variants, including their function, impact on health, and links to various conditions, diseases, and disorders.

    OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that catalogs information about genes and genetic disorders. It provides detailed summaries of scientific articles, gene names, genetic changes associated with diseases, and additional references to related resources.

    GeneTests is another valuable database that focuses on genetic testing for various diseases and conditions. It provides information on genes related to specific disorders, testing laboratories that offer genetic testing, and resources for individuals seeking genetic testing or counseling.

    Ectodermal Dysplasia Network maintains a database of genes associated with Ectodermal Dysplasias, a group of genetic disorders characterized by abnormal development of the skin, hair, teeth, and sweat glands. The database provides information on genes linked to Anhidrotic Ectodermal Dysplasia (EDA-ID) and Incontinentia Pigmenti (IP), two well-known conditions within this category.

    IKBKG (IKK-gamma) gene is listed within these databases due to its involvement in several conditions. Mutations in the IKBKG gene cause a condition called Incontinentia Pigmenti (IP), which affects the skin, hair, teeth, and other tissues. IKBKG gene mutations are also associated with an X-linked immunodeficiency disorder known as Osteopetrosis with Immune Deficiency.

    Research on the IKBKG gene has revealed its role in the NF-kappaB signaling pathway, an important pathway involved in immune response and inflammation regulation. The gene encodes a protein called IKK-gamma, which is critical for the activation of NF-kappaB transcription factors.

    In addition to OMIM and GeneTests, PubMed and ClinVar are two other databases frequently used in genetic research. PubMed contains a vast collection of scientific articles, while ClinVar focuses on genetic variants and their clinical implications.

    Overall, these gene and variant databases are invaluable resources for researchers, clinicians, and individuals seeking information about genes and genetic conditions. They provide a wealth of information on gene function, associated variants, and their impact on health. These databases play a crucial role in advancing our understanding of genetic diseases and developing effective diagnostic and treatment strategies.

    References

    • Courtois G, Smahi A. NF-kappaB dysfunction in severe forms of ED-ID. Genes Immun. 2006<;/a> pubmed

    • Courtois G. IKKgamma malfunction in cutaneous and skeletal disorders. Ann N Y Acad Sci. 2006 pubmed

    • Feinberg AP, Tycko B. The history of cancer epigenetics. Nat Rev Cancer. 2004 pubmed

    • Frayne J, et al. Association of mutations in the IKKgamma/NEMO gene with severe anhidrotic ectodermal dysplasia with immune deficiency. Hum Mol Genet. 2000 pubmed

    • Jakins TJ, et al. Identical mutations in the IKK-gamma gene cause both X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia and X-linked anhidrotic ectodermal dysplasia with immunodeficiency. J Immunol. 2008 pubmed

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