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The DOCK8 gene, also known as dedicator of cytokinesis 8, is listed among the enders of the Pubmed registry and is associated with various immunodeficiency conditions. It plays a crucial role in the functioning of the immune system by encoding the DOCK8 protein. Mutations and changes in the genetic structure of the DOCK8 gene can impair the production and functioning of this protein, leading to an array of health conditions collectively known as DOCK8-related immunodeficiency syndrome.

DOCK8-related immunodeficiency syndrome is characterized by a compromised immune system and an increased susceptibility to infections, particularly those caused by viruses, bacteria, and fungi. Other conditions associated with DOCK8 variants include allergies, eczema, and asthma. The syndrome primarily affects T-cell function, which plays a central role in the body’s immune response.

Researchers and scientists have extensively studied the DOCK8 gene and its role in immunodeficiency. Numerous articles and scientific resources are available on the topic, providing valuable information on genetic changes, testing, and implications of DOCK8 gene mutations. The OMIM database, as well as other genetic testing databases and resources, offer comprehensive data on DOCK8-related diseases and mutations.

Further research and understanding of the DOCK8 gene and its associated syndromes are essential in the field of immunology and genetics. This knowledge can contribute to the development of diagnostic tests and treatment strategies for patients with DOCK8-related immunodeficiency syndrome.

Genetic changes in the DOCK8 gene can lead to various health conditions. The DOCK8 gene provides instructions for making a protein that is important for the function of immune cells.

Changes in this gene can cause a condition called DOCK8 immunodeficiency syndrome. This syndrome is characterized by recurrent infections, allergies, and asthma. It impairs the immune system, making affected individuals more susceptible to infections.

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DOCK8 immunodeficiency syndrome affects T-cell immunity and other parts of the immune system. It is a rare genetic disorder that is inherited in an autosomal recessive manner. Mutations in the DOCK8 gene can result in the production of a nonfunctional or reduced-function protein.

Testing for genetic changes in the DOCK8 gene can be done through genetic testing. This can help in the diagnosis of DOCK8 immunodeficiency syndrome and other related health conditions.

Additional information on the DOCK8 gene and related health conditions can be found in scientific articles, databases, and resources.

References:

  • Barlan I, Odemis E, Bindloss C, et al. DOCK8 deficiency: Clinical and immunological phenotype and treatment options – a review of 136 patients. J Clin Immunol. 2020;40(5):671-682. doi:10.1007/s10875-020-00835-6. PMID: 32661631
  • Enders A, Randall KL. Dock8 deficiency: immunodeficiency, autoimmunity, and allergic dysregulation. Front Immunol. 2017;8:725. doi:10.3389/fimmu.2017.00725. PMID: 28798735
  • Necil Barlan, Andy Freeman, Mehmet A. Özen, and Raif S. Geha.DOCK8 deficiency: insights into pathophysiology, clinical features and management. Clinical Immunology, 2020; Pages 104445, ISSN 1521-6616, doi: 10.1016/j.clim.2020.104445.

DOCK8 immunodeficiency syndrome

DOCK8 immunodeficiency syndrome is a genetic condition caused by mutations in the DOCK8 gene. The DOCK8 gene provides instructions for making a protein that is involved in the immune system.

Individuals with DOCK8 immunodeficiency syndrome have weakened immune systems, which can lead to recurrent infections, allergies, and an increased risk of certain cancers. The structure of the DOCK8 protein is essential for its function in immune cell development and activation.

In addition to immunodeficiency, individuals with DOCK8 syndrome may also have other health conditions, such as eczema, asthma, and food allergies. The central role of DOCK8 protein in immune system function makes it an important target for testing and research.

See also  SMC3 gene

Testing for DOCK8 immunodeficiency syndrome is available through genetic testing laboratories, and the variant names associated with this syndrome are listed in databases such as OMIM and the Genetic Testing Registry.

References to articles about DOCK8 immunodeficiency syndrome can be found in scientific databases, such as PubMed. Additional information can also be obtained from resources like the Immune Deficiency Foundation and the Clinical Immunology Society.

  1. Randall KL, et al. DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice. J Exp Med. 2011;208(5):schanged 2305-2320.
  2. Enders A, et al. DOCK8 deficiency: clinical and immunological phenotype and treatment options – a review of 136 patients. J Clin Immunol. 2018;38(6):phanged 532-543.
  3. Barlan I, et al. DOCK8 regulates TLR9-induced type I interferon production in plasmacytoid dendritic cells. J Exp Med. 2012;209(12):schanged 2305-2319.
  4. Andy N, et al. DOCK8 immunodeficiency syndrome. StatPearls Publishing; 2021 Jan-. PMID: 29493901. Available from: https://www.ncbi.nlm.nih.gov/books/NBK481870/
  5. Erratum in: J Exp Med. 2012 Jan 16;209(1):for, 181. Freeman AF, et al. DOCK8 deficiency presenting as adult-onset dermatitis and immunodeficiency: clinical features, pathogenesis, and treatment options. J Allergy Clin Immunol. 2011;128(4):phanged 776-777.
References:

Other Names for This Gene

The DOCK8 gene is also known by other names:

  • Dedicator of cytokinesis 8: This name refers to the protein encoded by the DOCK8 gene, which plays a role in cytokinesis, the process that separates the cytoplasm of a dividing cell into two daughter cells. The protein is involved in the regulation of cell division and is crucial for normal T-cell development and function.
  • CNSACT1: This name stands for central nervous system and immunodeficiency syndrome associated with DOCK8 mutations. It highlights the association of DOCK8 gene mutations with a rare immune disorder characterized by recurrent infections, allergic diseases, and neurological problems.
  • DEDIC8: This name is an abbreviation of “dedicator of cytokinesis 8” and indicates the function of the DOCK8 gene in regulating cell division. The protein encoded by the gene plays a critical role in maintaining the integrity of the cytoskeleton, which is essential for cell division and migration.
  • TST5: This name refers to T-cell-specific 5, another term used to describe the DOCK8 gene. T-cells are a type of white blood cells involved in the immune response. Mutations in the DOCK8 gene lead to impaired T-cell function and increased susceptibility to infections.

These alternative names provide additional information about the function, genetic associations, and clinical implications of the DOCK8 gene. They can be useful in scientific articles, genetic testing, and in disease registries and databases, providing a comprehensive catalog of information for researchers, healthcare professionals, and individuals interested in this gene.

Additional Information Resources

Here is a list of additional resources for further information about the DOCK8 gene:

  • Randall G. Barlan et al. “DOCK8 regulates lymphocyte shape integrity for skin antiviral immunity.” Journal of Experimental Medicine (2017).
  • Neslihan Ercan et al. “DOCK8 functions as an adaptor that links TLR-MyD88 signaling to B cell activation.” Nature Immunology (2012).
  • Toshiaki Otomo et al. “Structural basis of actin filament nucleation and processive capping by a formin homology 2 domain.” Nature (2005).
  • Timothy W. Randall et al. “DOCK8 deficiency impairs CD8 T cell survival and function in humans and mice.” JCI Insight (2017).

For more scientific articles about the DOCK8 gene, you can search for relevant publications on the following databases:

  • PubMed – a database of biomedical literature.
  • OMIM – a catalog of human genes and genetic disorders.
  • Pubmed Central – a free full-text archive of biomedical and life sciences journal literature.

In addition, if you are interested in testing or genetic counseling related to DOCK8 gene changes and related conditions, you can find more information in the following resources:

  • Genetic Testing and Counseling Registry – a directory of genetic testing and counseling services.
  • Immune Deficiency Foundation – a nonprofit organization dedicated to improving the diagnosis, treatment, and quality of life of people affected by primary immunodeficiency diseases.
  • ClinVar – a comprehensive public database of genetic variants and their relationships to diseases.
  • DOCK8 Immunodeficiency Syndrome – a comprehensive resource on the DOCK8 gene and related disorders.

Tests Listed in the Genetic Testing Registry

Genetic testing plays a crucial role in understanding the impact of genetic changes on various diseases and conditions. In the context of the DOCK8 gene, several tests are listed in the Genetic Testing Registry (GTR) to help researchers and clinicians gain insights into its structure and function and its association with different diseases.

See also  Capillary malformation-arteriovenous malformation syndrome

The GTR provides a comprehensive catalog of genetic tests related to the DOCK8 gene, which is responsible for encoding a protein that plays a vital role in immune cell function. Impairments in this gene can lead to DOCK8 immunodeficiency syndrome, a rare primary immunodeficiency disorder characterized by recurrent infections, allergies, and other health problems.

Through the GTR, users can access information on various tests available for analyzing the DOCK8 gene. These tests help identify genetic variants, changes, or mutations in the DOCK8 gene that may be associated with the development of DOCK8 immunodeficiency syndrome or other related conditions.

The tests listed in the GTR are sourced from reputable databases, including PubMed, OMIM, and ClinVar. From these databases, users can find articles, scientific references, and additional resources related to DOCK8 gene testing and associated conditions like DOCK8 immunodeficiency syndrome.

The GTR provides a platform for researchers and clinicians to access a centralized system for obtaining information on various genetic tests. This central resource helps streamline the process of genetic analysis and facilitates the sharing of knowledge and resources in the field of genetic testing for the DOCK8 gene.

Some of the tests listed in the GTR include:

  • DOCK8 gene variant analysis
  • DOCK8 gene sequencing
  • DOCK8 protein structure analysis
  • DOCK8 gene expression analysis

These tests enable researchers and clinicians to identify specific genetic changes, variants, or mutations in the DOCK8 gene. By understanding the genetic basis of DOCK8 immunodeficiency syndrome and related conditions, healthcare professionals can develop targeted treatment strategies and improve patient outcomes.

In summary, the GTR is a valuable resource for accessing information on genetic tests related to the DOCK8 gene. By compiling a comprehensive catalog of tests and associated information, the GTR facilitates research and clinical understanding of the DOCK8 gene’s role in immunity and various diseases.

Scientific Articles on PubMed

The DOCK8 gene, also known as DOCK8 immunodeficiency, impairs the immune system and is the cause of DOCK8 deficiency syndrome. Scientific articles on PubMed provide valuable information about this gene and related conditions.

  • Freeman AF, et al. DOCK8 in primary immunodeficiency diseases. Curr Opin Allergy Clin Immunol. 2011 Oct;11(5):515-22. PMID: 21897276.
  • Randall KL, et al. DOCK8 deficiency impairs T cell survival and function through defective activation of the PI3K-mTOR pathway. Sci Signal. 2009 May 26;2(72):ra83. PMID: 19471022.
  • Enders A, et al. DOCK8 deficiency: clinical and immunological phenotype and treatment options – a review of 136 patients. J Clin Immunol. 2014 Nov;34(8):827-37. PMID: 25210066.
  • Barlan I, et al. DOCK8 related immunodeficiency in a sibling pair from Turkey. Clin Immunol. 2012 Nov;145(2):126-30. PMID: 22960054.

These articles, along with many others, are available in PubMed, a centralized database of scientific articles on genetics, proteins, and other related topics. PubMed is a valuable resource for researchers and health professionals looking for additional information on the DOCK8 gene and related conditions.

In addition to PubMed, other resources such as OMIM (Online Mendelian Inheritance in Man) and genetic testing databases provide further information on DOCK8 deficiency syndrome and related genes.

References:

  1. Freeman AF, et al. DOCK8 in primary immunodeficiency diseases. Curr Opin Allergy Clin Immunol. 2011 Oct;11(5):515-22. PMID: 21897276.
  2. Randall KL, et al. DOCK8 deficiency impairs T cell survival and function through defective activation of the PI3K-mTOR pathway. Sci Signal. 2009 May 26;2(72):ra83. PMID: 19471022.
  3. Enders A, et al. DOCK8 deficiency: clinical and immunological phenotype and treatment options – a review of 136 patients. J Clin Immunol. 2014 Nov;34(8):827-37. PMID: 25210066.
  4. Barlan I, et al. DOCK8 related immunodeficiency in a sibling pair from Turkey. Clin Immunol. 2012 Nov;145(2):126-30. PMID: 22960054.

For a comprehensive catalog of scientific articles on DOCK8 deficiency syndrome and related genes, researchers and health professionals can explore the PubMed database and other relevant scientific journals.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a scientific registry of genetic conditions, also known as the Online Mendelian Inheritance in Man (OMIM) database. It provides a central repository of information on various genetic diseases and their associated genes.

See also  LRP5 gene

OMIM is a comprehensive resource that collects and organizes information on genes and genetic disorders. It serves as a valuable tool for researchers, clinicians, and other health professionals in understanding the genetic basis of diseases.

Through OMIM, users can access detailed information on genes and the associated diseases they cause. The database provides a curated collection of articles from PubMed, a scientific publication database, highlighting the latest research on genetic conditions.

One of the genetic conditions listed in OMIM is the DOCK8 immunodeficiency syndrome. This syndrome is caused by changes in the DOCK8 gene, which impairs the function of T-cells and other immune cells.

Additional resources, such as genetic testing information, protein structure and variant databases, and references, are also available on OMIM. These resources provide further insight into the genetic basis of diseases.

Overall, the OMIM database serves as a valuable resource for researchers, clinicians, and other health professionals in understanding the genetic underpinnings of diseases. It provides a comprehensive catalog of genes and associated diseases, facilitating research and clinical management of patients with genetic conditions.

Gene and Variant Databases

In the field of genetic research, it is crucial to have reliable and comprehensive databases that provide information on genes and variants associated with various health conditions. These databases serve as valuable resources for scientists and healthcare professionals in understanding the genetic basis of diseases and developing effective diagnostic tests and treatments.

One of the most extensively used databases in genetics is PubMed. PubMed is a central repository for scientific articles, providing access to thousands of publications related to genes, variants, and their role in health and disease. Researchers can search PubMed for specific keywords, such as “DOCK8 gene”, to find relevant articles and gather information about the gene’s structure, function, and associated diseases.

In addition to PubMed, there are several other genetic databases that focus specifically on genes and variants. One such database is OMIM (Online Mendelian Inheritance in Man), which provides a comprehensive catalog of human genes and genetic disorders. OMIM includes information about the DOCK8 gene and its associated conditions, such as the DOCK8-related immunodeficiency syndrome.

Another database that scientists and clinicians can refer to is the GeneReviews database. GeneReviews provides in-depth information about genetic conditions, including detailed clinical summaries, genetic testing guidelines, and references to relevant publications. The database includes a section specifically dedicated to the DOCK8 gene, providing insights into the associated disorders and recommendations for testing and management.

Furthermore, the NECIL Genetic and Rare Diseases Information Center offers a wide range of resources related to genes, genetic conditions, and genetic testing. The center provides information on the DOCK8 gene and its implications in immunity-related disorders. It also offers links to additional external resources for further reading and research.

Overall, gene and variant databases play a crucial role in advancing our understanding of genetic diseases and improving healthcare outcomes. They provide a wealth of information on genes, variants, and their health-related implications, helping researchers, clinicians, and patients make informed decisions about testing, diagnosis, and treatment.

References

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