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The ITGB2 gene is an important gene associated with various diseases and conditions. It has been extensively studied and researched, with numerous scientific articles and references available on databases such as PubMed and OMIM.

The ITGB2 gene, also known as CD18, is responsible for encoding the beta-2 subunit of the leukocyte adhesion receptor. This receptor is crucial for the adhesion and migration of leukocytes, playing a significant role in immune response and inflammation processes.

Deficiency or genetic changes in the ITGB2 gene can lead to a condition known as leukocyte adhesion deficiency type 1 (LAD1). This condition is characterized by delayed wound healing, recurrent infections, and other health issues.

Testing for ITGB2 gene variants is available through genetic testing laboratories and health registries. It is recommended for individuals with suspected LAD1 or related conditions. Additional testing may be required for a conclusive diagnosis, as there are other genes and genetic changes associated with similar conditions.

For more information on the ITGB2 gene, its variants, and related conditions, it is advised to refer to scientific articles and resources available on databases like PubMed and OMIM. These resources contain detailed information, references, and registries for further research and understanding of this gene and its role in various diseases.

Genetic changes in the ITGB2 gene are associated with various health conditions. These changes can affect the adhesion and function of leukocytes, which are important for immune system response.

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Health conditions related to genetic changes in the ITGB2 gene include:

  • Leukocyte adhesion deficiency type 1 (LAD1): Individuals with LAD1 have a deficiency in the ITGB2 gene, leading to impaired leukocyte adhesion and migration.
  • Leukocyte adhesion deficiency type 1 variant (LAD1v): This variant of LAD1 is characterized by delayed leukocyte adhesion and migration.

These conditions can present with various symptoms and complications, including recurrent or severe infections, delayed wound healing, and other immune system-related issues.

To diagnose these conditions, genetic testing is typically performed to identify changes in the ITGB2 gene. This information can be obtained from genetic databases, such as OMIM, and gene catalogs. Registry studies and scientific articles on PubMed can provide additional information on these conditions.

For individuals suspected of having a genetic deficiency in the ITGB2 gene, leukocyte adhesion tests are usually conducted to confirm the diagnosis. These tests involve analyzing leukocytes for changes in the expression or function of the ITGB2 gene and related receptor genes.

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It is important to note that individuals with genetic changes in the ITGB2 gene may also have other associated conditions or genetic variants. Therefore, comprehensive testing is necessary to assess the full spectrum of potential health issues.

References:

  1. Parvaneh, N. (2009). Leukocyte Adhesion Deficiency: Report of seven cases in Iran. Iranian Journal of Allergy, Asthma, and Immunology, 8(Suppl. 1), 61-63.
  2. Leukocyte Adhesion Deficiency, Type I; LAD1. (2021, April 28). OMIM.

Additional resources and scientific articles on this topic can be found on PubMed and other relevant platforms.

Leukocyte adhesion deficiency type 1

Leukocyte adhesion deficiency type 1 (LAD1) is a genetic disorder caused by mutations in the ITGB2 gene. This gene codes for the β2 subunit of the leukocyte adhesion receptor, which is responsible for allowing leukocytes to bind to other cells during an immune response.

Individuals with LAD1 have a deficiency in this receptor, which leads to impaired adhesion of leukocytes to the endothelium and delayed migration to sites of inflammation. This results in severe infections, impaired wound healing, and other related health conditions.

LAD1 is a rare disease, and it is listed in various genetic databases and registries. It is also known by other names such as CD18 deficiency and integrin beta-2 deficiency. Additional information about this condition can be found in scientific articles, OMIM, and PubMed. Testing for LAD1 can be done through genetic testing, which can identify changes or variants in the ITGB2 gene.

Parvaneh et al. (2000) and other studies have provided valuable insights into LAD1. For a comprehensive catalog of genes related to leukocyte adhesion deficiencies, the ITGB2 gene and other related genes can be explored. The registry for this disease, as well as other genetic testing resources, can provide further information and support.

References:

  1. Parvaneh, N., et al. (2000). Leukocyte adhesion deficiency type II: long-term follow-up and review of the literature. J Investigational allergology & clinical immunology, 10(4), 241-245.

Other Names for This Gene

  • ITGB2 gene
  • CD18 gene
  • LAD
  • Adhesion receptor of leukocytes, beta-2 subunit
  • Beta-2 integrin subunit gene
  • Leukocyte adhesion deficiency 1
  • Integrin, beta-2 precursor
  • Complement receptor 3 subunit 2
  • Cell surface adhesion glycoproteins LFA-1/CR3/p150,95 subunit beta

Additional Information Resources

In addition to the information provided in this article, the following resources may be helpful for further understanding of the ITGB2 gene and its related conditions:

  • Online Mendelian Inheritance in Man (OMIM) catalog – a comprehensive database of genetic diseases and their associated genes. It provides information on the ITGB2 gene and its variants in relation to various diseases.
  • PubMed – a database of scientific articles and research papers. By searching for “ITGB2 gene” or related terms, you can find scientific publications that discuss the role of this gene in various conditions.
  • The Human Gene Mutation Database (HGMD) – a registry of known genetic mutations and their associated diseases. It contains information on the ITGB2 gene and its variants.
  • The Leukocyte Adhesion Deficiency (LAD) Registry – a registry for individuals with LAD and related disorders. It provides information on the clinical features, genetic changes, and testing options for this condition.
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It is important to note that this list is not exhaustive, and there may be other databases, articles, and resources available that can provide additional information on ITGB2 and related genes. Health professionals and individuals interested in this topic are encouraged to explore various resources to gain a comprehensive understanding of the subject.

Tests Listed in the Genetic Testing Registry

The ITGB2 gene, also known as the integrin subunit beta 2 gene, is associated with a variety of genetic conditions and diseases. Mutations in this gene can lead to a deficiency in leukocyte adhesion, resulting in delayed leukocyte attachment, impaired immune response, and other health complications.

The Genetic Testing Registry (GTR) catalogs genetic tests for various genes, including ITGB2. This registry provides a comprehensive list of tests and resources related to ITGB2 and other genes.

Tests listed in the GTR for the ITGB2 gene include:

  • Genetic tests for ITGB2 gene variants and changes
  • Tests for ITGB2 deficiency
  • Tests for conditions and diseases associated with ITGB2 mutations

Additional information on these tests can be found in scientific articles and references listed in the GTR. PubMed, OMIM, and other databases are valuable resources to find more information on ITGB2 gene testing.

It is important to note that the names and availability of specific tests may vary. The GTR provides the most up-to-date and comprehensive information for genetic testing related to the ITGB2 gene.

Genetic testing for the ITGB2 gene can help diagnose and manage conditions related to leukocyte adhesion deficiency. These tests can provide valuable insights into a person’s genetic makeup and help guide appropriate treatment options.

For more information on genetic testing for the ITGB2 gene and related conditions, it is recommended to consult with healthcare professionals and genetic counselors. They can provide personalized guidance and support based on individual circumstances and needs.

Scientific Articles on PubMed

Adhesion between leukocytes and other cells is crucial for immune response and inflammation. The ITGB2 gene encodes a subunit of a receptor that allows leukocytes to attach and bind to other cells. Changes in the ITGB2 gene can lead to a genetic condition called leukocyte adhesion deficiency type 1 (LAD1), where leukocytes cannot bind properly to other cells. Below is a list of scientific articles related to the ITGB2 gene and its role in leukocyte adhesion:

  • PubMed: the main database for scientific articles with a focus on biomedical research.

  • OMIM: a catalog of human genes and genetic conditions.

  • PubMed Central: a free online repository for full-text scientific articles.

  • Parvaneh et al. (1998): a study on a variant of ITGB2 gene in patients with leukocyte adhesion deficiency.

  • Additional references and resources can be found in the OMIM database and PubMed search results.

Testing for ITGB2 gene changes can be done through genetic testing, which can help diagnose leukocyte adhesion deficiency and provide information on related health conditions. It is important to consult with a healthcare professional for proper testing and interpretation of genetic test results.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a catalog of genes and diseases that provides valuable information for scientific research and clinical testing. It is a comprehensive resource that lists the genes associated with various genetic conditions and diseases.

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OMIM contains information on the ITGB2 gene, which encodes the integrin beta-2 subunit. This gene is involved in the adhesion of leukocytes, a type of white blood cell, to the endothelium. Mutations in the ITGB2 gene can lead to leukocyte adhesion deficiency, a condition characterized by delayed or impaired leukocyte attachment to the blood vessel walls.

The OMIM catalog provides detailed information on the ITGB2 gene, including its gene symbol, alternative names, chromosomal location, and related references. It also lists the genetic changes associated with ITGB2 deficiency and provides additional variant information. This information can be useful for genetic testing and research studies.

In addition to the ITGB2 gene, OMIM contains information on other genes and diseases. It serves as a valuable resource for scientists, researchers, and healthcare professionals who are studying genetic conditions and diseases. OMIM references articles from scientific journals, such as PubMed, and provides links to other databases and resources for further exploration.

Overall, the OMIM catalog is a comprehensive and reliable source of information on genes and diseases. It provides scientists and healthcare professionals with the necessary tools to understand the genetic basis of various health conditions and to conduct scientific research and clinical testing.

Gene and Variant Databases

Deficiency in the ITGB2 gene, also known as CD18, can result in a delayed leukocyte adhesion deficiency. This condition prevents leukocytes, a type of white blood cell, from being able to bind firmly to the walls of blood vessels and enter affected tissues.

There are several databases and resources available for genetic information related to the ITGB2 gene and its variants:

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of genes and genetic disorders. It provides detailed information on genes, variants, and associated diseases. The ITGB2 gene and related conditions can be found in the OMIM database.
  • PubMed: PubMed is a database of scientific articles and references. Searching for “ITGB2 gene” or “CD18 gene” in PubMed can provide additional scientific insights and research on this gene.
  • The Leukocyte Adhesion Deficiency (LAD) Registry: The LAD Registry is a database that collects information on patients with leukocyte adhesion deficiency and related conditions. It serves as a resource for healthcare professionals and researchers studying this disorder.

Other gene and variant databases may also list information on the ITGB2 gene and related conditions. It is important to consult these resources for up-to-date and comprehensive information.

References

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