ZAP70 gene – Austra Health

The ZAP70 gene, also known as Zeta-chain-associated protein 70, is a gene that plays a crucial role in the functioning of the immune system. It is responsible for encoding a protein called ZAP70, which is essential for the activation of T cells.

Research on the ZAP70 gene has been extensively documented in scientific literature, with numerous studies available on databases such as PubMed. These publications provide valuable information on the various variants and changes in the ZAP70 gene, as well as its role in different genetic immunodeficiency conditions.

Testing for ZAP70 gene mutations is available through various genetic testing resources and clinics. This testing can help diagnose severe immunodeficiency diseases such as ZAP70-related combined immunodeficiency. Additional information on these conditions can be found in the OMIM gene catalog, as well as in other health resources.

Health Conditions Related to Genetic Changes

Genetic changes in the ZAP70 gene are related to a condition known as Zap70-related severe combined immunodeficiency (SCID). This scientific condition is characterized by a severe impairment of the immune system, leading to recurrent and severe infections. Individuals with Zap70-related SCID have mutations in the ZAP70 gene that prevent the immune system from functioning properly.

In addition to Zap70-related SCID, changes in the ZAP70 gene can also be associated with other health conditions. These include:

ZAP70-related autoimmune disorders: Some individuals with genetic changes in the ZAP70 gene may develop autoimmune disorders, where the immune system mistakenly attacks the body’s own cells and tissues.
Other immunodeficiency disorders: Changes in the ZAP70 gene can also be linked to other forms of immunodeficiency, where the immune system is weakened and unable to protect against infections.

To learn more about these conditions and the genetic changes in the ZAP70 gene, you can refer to the following resources:

ClinVar: A database of genetic changes and their clinical significance, providing information on ZAP70 gene variants associated with different health conditions.
OMIM: A catalog of human genes and genetic disorders, which provides detailed information on the ZAP70 gene and its associated diseases.
PubMed: A comprehensive database of scientific articles, where you can find research papers and studies related to the ZAP70 gene and its role in health and disease.

If you suspect a genetic change in the ZAP70 gene or any related health condition, it is recommended to consult a healthcare professional for further evaluation and testing. Additional genetic tests may be necessary to confirm the diagnosis and provide appropriate medical management.

References:

Scientific Articles on ZAP70 gene: A list of relevant scientific articles on the ZAP70 gene and its associated health conditions, available on PubMed.
ZAP70 Gene Variant Registry: A registry of ZAP70 gene variants and their clinical significance, maintained by research institutions and genetic testing laboratories.

ZAP70-related severe combined immunodeficiency

ZAP70-related severe combined immunodeficiency (SCID) is a genetic immunodeficiency disorder caused by changes in the ZAP70 gene. SCID is a group of conditions that affects the immune system, making it difficult for individuals to fight off infections. ZAP70-related SCID is one specific form of SCID that is related to mutations in the ZAP70 gene.

The ZAP70 gene provides instructions for making a protein called Zeta-chain-associated protein kinase 70. This protein plays a critical role in immune cell signaling. Mutations in the ZAP70 gene result in a non-functional or absent ZAP70 protein. Without this protein, the immune system is unable to respond to infections properly.

Individuals with ZAP70-related SCID typically present with severe infections in the first few months of life. These infections can be life-threatening and may recur frequently. Common symptoms of ZAP70-related SCID include persistent diarrhea, failure to thrive, and recurrent respiratory infections. Without treatment, affected individuals are at high risk of developing serious complications from these infections.

Diagnosis of ZAP70-related SCID is made through genetic testing. This testing can identify changes in the ZAP70 gene that are associated with the condition. In addition to genetic testing, other laboratory tests, such as immunological testing, can help confirm the diagnosis.

There are currently no specific treatments for ZAP70-related SCID. Management of the condition typically involves preventing and controlling infections through the use of antibiotics and immunoglobulin replacements. Hematopoietic stem cell transplantation is considered the only curative treatment option for ZAP70-related SCID.

For more information on ZAP70-related severe combined immunodeficiency, additional resources can be found in scientific databases such as PubMed and OMIM. These databases provide access to articles, genetic variant information, and references to other related diseases. The Online Mendelian Inheritance in Man (OMIM) catalog and the GeneReviews database are also valuable resources for information on ZAP70-related SCID. These resources contain detailed clinical and genetic information, as well as references to scientific articles and testing resources.

In conclusion, ZAP70-related severe combined immunodeficiency is a genetic condition caused by changes in the ZAP70 gene. It is characterized by severe immunodeficiency, leading to recurrent and life-threatening infections. Genetic testing and immunological testing can aid in the diagnosis of ZAP70-related SCID. Management of the condition involves preventing and treating infections, and hematopoietic stem cell transplantation is the only curative treatment option.

Other Names for This Gene

The ZAP70 gene, also known as the ZAP-70 gene, has various other names in scientific literature and databases. Some of these names are:

ZAP70-related immunodeficiency
70kDa zeta-associated protein-related immunodeficiency
ZAP70-related combined immunodeficiency
70 kDa zeta chain-associated protein-related combined immunodeficiency
ZAP70-related severe combined immunodeficiency
ZAP-70-related severe combined immunodeficiency
Zeta-associated protein 70-related combined immunodeficiency

Additional Information Resources

For more information and resources on ZAP70 gene and related health conditions and testing, please refer to the following:

Genetic Testing: Genetic testing for changes in the ZAP70 gene and other genes related to genetic immunodeficiency, severe combined immunodeficiency (SCID), and other related diseases can be done at specialized laboratories.
PubMed: PubMed is a scientific database that provides access to articles and scientific publications related to the ZAP70 gene and its associated conditions. PubMed can be searched using the scientific names or genetic variant names for ZAP70-related diseases.
OMIM: OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders. It provides comprehensive information on the ZAP70 gene and its associated conditions, including genetic variants and clinical descriptions.
Registry resources: There are registries available for different genetic conditions, including ZAP70-related diseases. These registries collect and maintain information on individuals with specific genetic variants. They may provide additional information, support, and resources for individuals and families affected by these conditions.
Additional articles and databases: Apart from PubMed and OMIM, there are other scientific databases and articles available that provide information on the ZAP70 gene and related conditions. These resources can help in understanding the genetic basis, clinical features, and management options for this gene.
Clinical information: For detailed clinical information, it is recommended to consult medical professionals and specialists in the field of immunology. They can provide up-to-date information on the latest research, treatment options, and clinical trials related to ZAP70-related diseases.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a comprehensive list of tests related to the ZAP70 gene. The GTR is a database that catalogs genetic tests and their associated information, such as the condition or disease being tested for, the gene(s) involved, and the available testing methods.

Tests listed in the GTR for the ZAP70 gene include:

Immunodeficiency, severe combined, due to ZAP70 deficiency
ZAP70-related combined immunodeficiency
ZAP70-related immunodeficiency with autoimmunity

These tests are focused on detecting changes (variants) in the ZAP70 gene that are associated with severe combined immunodeficiency and other related conditions. Severe combined immunodeficiency is a group of disorders that affect the immune system’s ability to fight off infections.

Additional information about these tests and related conditions can be found in scientific articles and databases such as OMIM, PubMed, and ClinVar. These resources provide more information on the ZAP70 gene, related diseases, and available testing methods.

References and citations from scientific articles are also available in the GTR, offering further reading for those interested in learning more about the ZAP70 gene, related diseases, and the tests available.

Overall, the GTR serves as a valuable resource for individuals and healthcare professionals seeking information on genetic testing for the ZAP70 gene and its associated conditions.

Scientific Articles on PubMed

For clinicians and researchers studying zap70-related immunodeficiency, there are several resources available on PubMed. PubMed is a database that provides information on genetic variants and related scientific articles. In this registry, you can find severe combined immunodeficiency (SCID) conditions associated with changes in the ZAP70 gene.

On PubMed, you can access a catalog of scientific articles on zap70-related immunodeficiency and other related diseases. These articles provide valuable information on genetic variations, testing methods, and the clinical implications of these genetic changes. The articles can be a useful resource for clinicians and researchers working on understanding and treating zap70-related immunodeficiency and other related conditions.

In addition to the scientific articles, PubMed also provides references to other resources related to the ZAP70 gene. These resources include genetic testing laboratories, health information, and databases such as OMIM (Online Mendelian Inheritance in Man) that provide information on genetic disorders.

By using PubMed, researchers and clinicians can find a wealth of information on zap70-related immunodeficiency and related conditions. The scientific articles available on PubMed provide up-to-date information on the genetics, testing methods, and management approaches for these conditions. This information can help improve patient care and advance research in this field.

For more information on the ZAP70 gene and zap70-related immunodeficiency, visit PubMed and explore the available articles and resources related to this gene and its associated diseases.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides comprehensive information on genetic diseases and the genes associated with them. This catalog serves as a valuable resource for researchers, healthcare professionals, and individuals interested in understanding rare genetic conditions.

The catalog includes a wide range of diseases and conditions that are attributed to genetic changes of the ZAP70 gene. ZAP70-related immunodeficiency is one of the health conditions listed in the catalog. Additional diseases associated with genetic changes in the ZAP70 gene are also included.

For each gene and associated disease, the catalog provides detailed information on the genetics, clinical manifestations, testing options, and available scientific references. The information is compiled from various sources, including scientific articles, OMIM, PubMed, and other databases. These references serve as a reliable source of information for understanding the genetic basis of these diseases.

The catalog also includes a registry of individuals and families with ZAP70-related immunodeficiency and other related diseases. This registry helps to connect affected individuals with healthcare providers and researchers, facilitating better understanding and management of these conditions.

In addition to the genetic and clinical information, the catalog provides information on available testing options for the ZAP70 gene and related disorders. These tests may include genetic testing, immunological testing, and other diagnostic procedures that aid in the diagnosis and management of these conditions.

Overall, the catalog of genes and diseases from OMIM serves as a comprehensive and reliable resource for understanding ZAP70-related immunodeficiency and other genetic diseases. It provides a wealth of information and references, enabling healthcare professionals and researchers to improve their knowledge and approach to these conditions.

Gene and Variant Databases

There are several databases available that provide information on gene and variant changes related to the severe genetic immunodeficiency diseases, such as ZAP70-related immunodeficiency. These databases serve as valuable resources for clinicians, researchers, and individuals seeking more information about these conditions.

OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It includes information on the ZAP70 gene and other genes related to immunodeficiency diseases. OMIM provides scientific names, gene symbols, and references to scientific articles and clinical resources for each gene.

ClinVar: ClinVar is a public database that collects and curates information about genetic variants and their relationship to human health. It includes information on variant changes in the ZAP70 gene and provides additional information such as the clinical significance of each variant, functional testing data, and related conditions.

GeneReviews: GeneReviews is a resource that provides clinical summaries of genetic conditions, including ZAP70-related immunodeficiency. It offers information on the clinical features of the condition, diagnostic testing options, genetic counseling, and management guidelines. GeneReviews also includes references to relevant scientific articles and other resources.

The Immunodeficiency Registry (IDR): The Immunodeficiency Registry is a comprehensive database that collects clinical and genetic information on individuals with primary immunodeficiency disorders. It includes information on individuals with ZAP70-related immunodeficiency and provides a platform for researchers and clinicians to share and access information about these conditions.

PUBMED: PUBMED is a database of scientific publications that includes articles on genetic changes and related conditions. Researchers and clinicians can search for articles on ZAP70-related immunodeficiency and other genetic immunodeficiency diseases to access the latest scientific research and information.

In addition to these databases, there are other resources available that provide information on the ZAP70 gene and its variants. These resources can be used to gather more information on the genetic basis of immunodeficiency diseases and to assist in clinical testing and diagnosis.

Key Gene and Variant Databases
Database	Information Provided	Available Resources
OMIM	Gene and variant information, scientific names, references	OMIM website
ClinVar	Variant information, clinical significance, functional testing data	ClinVar website
GeneReviews	Clinical information, diagnostic testing options, management guidelines	GeneReviews website
IDR	Clinical and genetic information on primary immunodeficiency disorders	IDR website
PUBMED	Scientific articles on genetic changes and related conditions	PUBMED website

References

Chan AC, Iwashima M, Turck CW, et al. ZAP-70: a 70 kd protein-tyrosine kinase that associates with the TCR zeta chain. Cell. 1992;71(3):649-662. doi:10.1016/0092-8674(92)90595-f.
Ezquerra M, Laviña P, Berrón S, et al. Genetic, clinical and immunological characteristics of patients with ZAP70 mutations: a multicentric study. Orphanet J Rare Dis. 2019;14(1):279. doi:10.1186/s13023-019-1246-6.
Patel F, Liebersbach B, Jain VK, Thaker A, Patel KN. ZAP70 Deficiency: Coexistence of Immunodeficiency and Autoimmunity. Case Reports Immunol. 2018;2018:4857157. doi:10.1155/2018/4857157.
Database of Single Nucleotide Polymorphisms (dbSNP). Bethesda (MD): National Center for Biotechnology Information, National Library of Medicine. dbSNP accession: rs1378543503.
OMIM: Online Mendelian Inheritance in Man. ZAP70-Related Immunodeficiency. https://www.omim.org/entry/605026. Accessed March 16, 2022.
ZAP70 Disease Registry. ZAP70-Related Immunodeficiency Registry. http://www.zap70registry.org/. Accessed March 16, 2022.
PubMed. Search results for ZAP70 gene. https://pubmed.ncbi.nlm.nih.gov/?term=ZAP70+gene. Accessed March 16, 2022.
Riggs ER, Wain KE, Riethmaier D, et al. Chromosomal Microarray Impacts Clinical Management. Clin Genet. 2014;85(2):147-153. doi:10.1111/cge.12342.
Sasaki Y, Derudder E, Hobeika E, et al. Canonical NF-kappaB activity, dispensable for B cell development, replaces BAFF-receptor signals and promotes B cell proliferation upon activation. Immunity. 2006;24(6):729-739. doi:10.1016/j.immuni.2006.03.022.

Health Conditions Related to Genetic Changes

ZAP70-related severe combined immunodeficiency

Other Names for This Gene

Additional Information Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

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