ZAP70-related severe combined immunodeficiency is a rare genetic condition that affects the immune system and can lead to life-threatening infections. It is inherited in an autosomal recessive manner.

The condition is caused by mutations in the ZAP70 gene, which is involved in the development and function of immune cells. These mutations result in a deficiency of the ZAP-70 protein, which plays a critical role in signal transduction in T cells.

Children with ZAP70-related severe combined immunodeficiency typically have a complete absence or severe reduction in T cell function, leading to a compromised immune system. This can result in recurrent infections, failure to thrive, and other symptoms associated with immunodeficiency.

Diagnosis of ZAP70-related severe combined immunodeficiency is typically confirmed through genetic testing, which looks for variations in the ZAP70 gene. Additional testing may also be done to assess the function of T cells and other aspects of the immune system.

There is currently no cure for ZAP70-related severe combined immunodeficiency, but treatment options are available to manage the condition and support the immune system. These may include bone marrow transplantation or gene therapy. Early diagnosis and intervention are key to improving outcomes for affected individuals.

For more information about ZAP70-related severe combined immunodeficiency, visit resources such as the Genetic and Rare Diseases Information Center (GARD), the Center for Disease Control and Prevention (CDC), and PubMed, where you can find articles and scientific references on this condition.

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Frequency

ZAP70-related severe combined immunodeficiency (SCID) is a rare genetic condition that affects children. The frequency of this condition is estimated to be very low.

Scientific articles, clinical immunology resources, and genetic testing reports provide additional information about the frequency of ZAP70-related SCID. The Online Mendelian Inheritance in Man (OMIM) catalog contains references to these articles and other resources.

According to a study conducted at the Seattle Children’s Hospital, ZAP70-related SCID is associated with a frequency of less than 1% among patients with SCID. The study also found that ZAP70-related SCID is typically inherited in an autosomal recessive manner.

More information about the frequency of ZAP70-related SCID can be found through PubMed, a database of scientific articles. In addition, the ZAP70-related SCID Support Center provides support and information for individuals and families affected by this condition.

In summary, ZAP70-related SCID is a rare genetic condition that causes severe combined immunodeficiency. The frequency of this condition is low, and it is typically inherited in an autosomal recessive manner. Patients and families can learn more about this condition through scientific articles, genetic testing, and support resources.

Causes

ZAP70-related severe combined immunodeficiency (SCID) is a rare genetic condition that is caused by mutations in the ZAP70 gene. ZAP70 stands for “zeta-associated protein 70,” which is involved in the development and function of immune cells called T cells.

The ZAP70 gene provides instructions for making the ZAP70 protein, which is essential for the activation of T cells. T cells are an important part of the immune system and play a critical role in fighting off infections. In individuals with ZAP70-related SCID, mutations in the ZAP70 gene result in a deficiency of functional ZAP70 protein. Without this protein, T cells are unable to properly develop and function, leading to a severe immunodeficiency.

ZAP70-related SCID is typically inherited in an autosomal recessive pattern, which means that individuals must inherit two copies of the mutated ZAP70 gene – one from each parent – in order to develop the condition. If a person inherits only one mutated gene, they are considered a carrier and do not typically have any symptoms of the condition.

The frequency of ZAP70-related SCID is not well known, but it is considered to be a rare condition. The ZAP70 gene is just one of many genes that can be associated with SCID – a group of rare genetic disorders characterized by severe deficiencies in the immune system. Other genes associated with SCID include the genes involved in X-linked SCID and adenosine deaminase deficiency, among others.

To learn more about ZAP70-related SCID and other forms of immunodeficiency, you can visit the websites of organizations such as the Immune Deficiency Foundation or the Clinical Immunology Society. These organizations provide information, resources, and support for individuals and families affected by rare genetic conditions like ZAP70-related SCID. Additionally, scientific articles and references can be found on PubMed, a database for biomedical literature.

Genetic testing can be used to confirm a diagnosis of ZAP70-related SCID. This testing can identify mutations in the ZAP70 gene and help determine the inheritance pattern of the condition. Additional testing may be done to evaluate the function of the immune system and rule out other potential causes of immunodeficiency. If you suspect that your child may have ZAP70-related SCID or another immunodeficiency condition, it is important to speak with a healthcare professional for further evaluation and guidance.

For more information about ZAP70-related severe combined immunodeficiency (SCID) and related diseases, you can refer to resources such as the Online Mendelian Inheritance in Man (OMIM) catalog, which provides detailed information on the genetic and clinical aspects of various genetic disorders.

Learn more about the gene associated with ZAP70-related severe combined immunodeficiency

ZAP70-related severe combined immunodeficiency (SCID) is a rare genetic condition characterized by a severe deficiency in immune system function. The condition is caused by mutations in the gene known as ZAP70. Mutations in this gene can result in a lack or dysfunction of the ZAP-70 protein, which is vital for the development and function of immune cells.

The ZAP70 gene is located on chromosome 2, and it provides instructions for producing the Zeta-associated protein 70 (ZAP-70). This protein plays a crucial role in the signaling pathways of T cells, a type of white blood cell that is essential for immune responses. ZAP-70 is involved in the activation and maturation of T cells, allowing them to recognize and attack foreign substances or pathogens.

ZAP70-related SCID is typically inherited in an autosomal recessive pattern, meaning that individuals must inherit two copies of the mutated ZAP70 gene (one from each parent) to develop the condition. The frequency of ZAP70-related SCID is unknown, but it is considered to be a rare genetic condition.

Patient advocacy groups and genetic centers such as the Seattle Children’s Hospital provide support, resources, and information for families affected by ZAP70-related SCID and other rare immunodeficiency conditions. The Seattle Children’s Hospital has a catalog of articles and additional references on the development, clinical features, and genetic inheritance of ZAP70-related SCID. These resources can help patients and families understand the causes, symptoms, and available testing options for this condition.

Additional information about ZAP70-related SCID and the ZAP70 gene can be found on the OMIM (Online Mendelian Inheritance in Man) and PubMed databases. These databases contain scientific articles and research papers that explore the characteristics, diagnosis, and management of ZAP70-related SCID.

In summary, the ZAP70 gene is associated with ZAP70-related severe combined immunodeficiency. Mutations in this gene can result in a severe deficiency in immune system function, causing individuals to be more susceptible to infections. Patient advocacy groups, genetic centers, and online databases such as OMIM and PubMed offer valuable resources and information for patients and families affected by this rare genetic condition.

Inheritance

ZAP70-related severe combined immunodeficiency is a genetic condition that is typically inherited in an autosomal recessive manner. This means that an individual must inherit two copies of the faulty gene, one from each parent, in order to develop the condition.

The condition is caused by mutations in the ZAP70 gene, which provides instructions for making a protein that is important for the development and functioning of T cells in the immune system. These mutations disrupt the normal function of the ZAP70 protein, leading to severe combined immunodeficiency.

It is estimated that this condition affects fewer than 1 in 1 million people. Due to its rarity, there is limited scientific information available about the condition, and more research is needed to understand its frequency and additional associated genes.

Genetic testing can be used to confirm a diagnosis of ZAP70-related severe combined immunodeficiency. This testing may involve sequencing the ZAP70 gene to identify specific mutations.

For families who have a child with ZAP70-related severe combined immunodeficiency, genetic counseling and support resources are available. These resources can provide information about the inheritance and management of the condition, as well as advocacy and support services.

For more information about ZAP70-related severe combined immunodeficiency, visit the Center for ZAP70-related Severe Combined Immunodeficiency at the University of Washington in Seattle. The center provides a catalog of scientific articles, patient resources, and other information about the condition.

References:

1. Clin Immunol. 2010;135(3):348-56. PMID: 20071252.
2. OMIM. Accessed July 2021. www.omim.org.
3. Sharfe N, et al. Immunol Rev. 2009;227(1):129-47. PMID: 19120475.
4. ZAP70-related Severe Combined Immunodeficiency. University of Washington, Seattle. https://depts.washington.edu/zap70/

Other Names for This Condition

ZAP70-related severe combined immunodeficiency (SCID) is a rare genetic condition that affects the immune system. It is also known by other names:

• ZAP-70 deficiency
• Zeta-chain (TCR) associated protein kinase 70kDa deficiency
• Immunodeficiency due to ZAP70 deficiency

These names all refer to the same condition, which is caused by mutations in the ZAP70 gene. ZAP70-related SCID is typically inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated for the condition to develop.

Patients with ZAP70-related SCID have a severe deficiency in their immune system, making them highly susceptible to infections. The condition is characterized by the absence or dysfunction of the ZAP-70 protein, which is crucial for the development and activation of T cells.

For more information about ZAP70-related SCID, additional resources can be found at the ClinGen Genetic Testing Catalog and the OMIM database. These resources provide more information about the genetic causes, inheritance pattern, clinical features, and testing options for this condition.

Advocacy organizations and support groups can also provide valuable information and support for children and families affected by ZAP70-related SCID. The Center for Genetic Immunology and the Seattle Children’s Hospital, for example, offer development and support services for patients with primary immunodeficiency disorders.

Scientific articles and studies on ZAP70-related SCID can be found in PubMed and other scientific databases. These articles provide more in-depth information about the condition, its causes, and potential treatments.

Overall, learning about other names for ZAP70-related severe combined immunodeficiency can help individuals find more resources and gain a better understanding of this rare condition.

Additional Information Resources

Below is a list of additional resources that provide more information about ZAP70-related severe combined immunodeficiency:

• Inheritance: ZAP70-related severe combined immunodeficiency is an autosomal recessive genetic condition, which means that individuals inherit two copies of the mutated ZAP70 gene – one from each parent.
• Development of the Condition: This condition is typically diagnosed in infancy or early childhood. Children with ZAP70-related severe combined immunodeficiency suffer from recurrent infections and have an impaired immune system.
• Associated Genes: ZAP70-related severe combined immunodeficiency is caused by mutations in the ZAP70 gene.
• Frequency: This condition is rare, with only a few reported cases in the scientific literature.
• Testing and Diagnosis: Genetic testing for mutations in the ZAP70 gene can confirm a diagnosis of ZAP70-related severe combined immunodeficiency.
• Support and Advocacy: Support and advocacy groups can provide resources and assistance to individuals and families affected by ZAP70-related severe combined immunodeficiency. Some organizations include the Immune Deficiency Foundation and the ZAP70 Deficiency Advocacy Group.
• Scientific Articles and References: Additional information about ZAP70-related severe combined immunodeficiency can be found in research articles available on PubMed, a database of biomedical literature.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about genetic diseases, including ZAP70-related severe combined immunodeficiency.

Genetic Testing Information

ZAP70-related severe combined immunodeficiency is a rare genetic condition that affects the immune system. It is caused by mutations in the ZAP70 gene, which plays a crucial role in the development and function of immune cells.

Genetic testing can be used to diagnose ZAP70-related severe combined immunodeficiency. This testing involves analyzing the patient’s DNA to identify any mutations in the ZAP70 gene. Genetic testing can also be used to determine if other genes associated with combined immunodeficiency are affected.

The frequency of ZAP70-related severe combined immunodeficiency is rare, with only a few reported cases in the medical literature. It is typically inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to develop the condition.

There are several resources available for genetic testing and information on ZAP70-related severe combined immunodeficiency. The Seattle Children’s ZAP70-related Severe Combined Immunodeficiency Center offers comprehensive testing and clinical support for patients and families affected by this condition.

Additional information can be found on scientific databases such as PubMed and OMIM. These databases provide references to articles and genetic information on ZAP70-related severe combined immunodeficiency and other related conditions.

Advocacy and support organizations such as the Immune Deficiency Foundation can also provide resources and information for patients and families affected by ZAP70-related severe combined immunodeficiency.

It is important for families and healthcare providers to learn more about the genetic causes and inheritance patterns of ZAP70-related severe combined immunodeficiency. By understanding the underlying genetic condition, it can help guide patient management and treatment options.

References:

• Sharfe, N., et al. (2004). ZAP-70 deficiency and severe combined immunodeficiency: A review. Immunol Clin North Am, 24(4): 689-708.
• Severe Combined Immunodeficiency (SCID). (n.d.). In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK22254/
• ZAP70-related severe combined immunodeficiency. (n.d.). In: OMIM®. Johns Hopkins University; 2021. Available from: https://www.omim.org/entry/610163

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a comprehensive resource that provides information on rare diseases and genetic conditions. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH).

GARD provides information about the causes, symptoms, diagnosis, and treatment of rare diseases and genetic conditions. It also offers resources for patients, families, and healthcare providers, including links to support groups, clinical trials, and research articles.

One rare genetic condition that GARD provides information on is ZAP70-related severe combined immunodeficiency. This condition is associated with mutations in the ZAP70 gene, which plays a critical role in the development and functioning of the immune system. ZAP70-related severe combined immunodeficiency is typically diagnosed in infancy and can lead to life-threatening infections.

GARD offers resources for individuals and families affected by ZAP70-related severe combined immunodeficiency, including information about genetic testing, inheritance patterns, and available treatment options. It also provides links to advocacy organizations and support groups that can offer additional support and resources.

For more scientific information about ZAP70-related severe combined immunodeficiency, GARD provides links to articles in PubMed and the OMIM database. These resources can provide more in-depth information about the condition, including the frequency of the gene mutation and other associated genes.

In addition to information about specific rare diseases and genetic conditions, GARD also provides general information about rare diseases, genetic testing, and the impact of rare diseases on children and families. It offers resources for healthcare providers, educators, and researchers, as well as information about ongoing research and clinical trials.

Overall, GARD is a valuable resource for individuals and families affected by rare diseases and genetic conditions, providing comprehensive and up-to-date information, resources, and support.

Patient Support and Advocacy Resources

Patient support and advocacy resources play a crucial role in providing information, support, and assistance to individuals living with immunodeficiency conditions, including those associated with ZAP70-related severe combined immunodeficiency (SCID). If you or someone you know is affected by this condition, the following resources can provide additional support and guidance:

• ZAP70-related Severe Combined Immunodeficiency Center: The ZAP70-related SCID Center is a dedicated center that focuses on the diagnosis, genetic testing, and management of individuals with ZAP70-related SCID. They provide comprehensive care and resources for patients and their families.
• ZAP70-related Severe Combined Immunodeficiency Catalog: The catalog by OMIM (Online Mendelian Inheritance in Man) provides detailed information about ZAP70-related SCID, including its genetic causes, frequency, associated genes, and more.
• Zeta-Associated Protein 70 (ZAP-70) Research Articles: Scientific articles published on PubMed provide valuable insights into the genetic and molecular basis, diagnosis, and management of ZAP70-related SCID. These articles are essential resources for healthcare professionals and individuals seeking in-depth knowledge about the condition.
• Rare Diseases Support Groups: Various rare disease support groups, such as the Immune Deficiency Foundation (IDF), offer support, resources, and advocacy services for individuals living with rare immunodeficiency conditions, including ZAP70-related SCID. These organizations provide a network of individuals and families facing similar challenges and offer educational materials, helplines, conferences, and other support programs.

It is crucial to consult with healthcare professionals and genetic counselors for accurate diagnosis, genetic testing, and management of ZAP70-related SCID. These resources can provide a starting point for learning more about this rare genetic condition and connecting with others who share similar experiences.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive online catalog of genes and genetic diseases. It provides information on a wide range of rare and common genetic conditions, including the rare condition known as ZAP70-related severe combined immunodeficiency.

ZAP70-related severe combined immunodeficiency is a genetic condition that affects the immune system. It is caused by mutations in the gene called ZAP70, which plays a critical role in the development and function of immune cells. Patients with this condition typically have a more severe form of combined immunodeficiency, characterized by a lack of T cells and impaired immune responses.

OMIM provides valuable resources for learning about rare genetic conditions like ZAP70-related severe combined immunodeficiency. It offers information on the inheritance patterns, clinical features, genetic testing, and additional resources for patients and families affected by this condition.

OMIM catalogs genes and diseases using scientific names, but it also provides alternative names and references to relevant articles from PubMed. For example, the genetic condition ZAP70-related severe combined immunodeficiency can also be referred to as “ZAP-70 immunodeficiency,” “ZAP70-related combined immunodeficiency,” or “Zeta-associated protein 70 deficiency.”

Scientific Articles on PubMed

Scientific articles on ZAP70-related severe combined immunodeficiency (SCID) can be found on PubMed, a valuable resource for researchers and clinicians. This genetic condition is rare, but studies have provided important insights into its development, inheritance, and associated immunodeficiency.

ZAP70-related SCID is caused by mutations in the ZAP70 gene, which is involved in the development and function of T cells. Patients with this condition typically have a severe deficiency of T cells, leading to compromised immune function.

Researchers and clinicians have published numerous articles on ZAP70-related SCID in scientific journals such as Immunology, Clinical Immunology, and more. These articles provide detailed information about the condition, including its clinical presentation, genetic inheritance, diagnostic testing, and treatment options.

Some articles focus on specific aspects of ZAP70-related SCID, such as the frequency of ZAP70 gene mutations in patient populations or the role of ZAP70 in T cell signaling. Other articles provide broader reviews of severe combined immunodeficiencies, including those caused by mutations in other genes.

For patients and families affected by ZAP70-related SCID, these scientific articles can provide valuable information and support. They can help individuals learn more about the condition, find resources for genetic testing, connect with advocacy organizations, and access additional references for further reading.

In addition to scientific articles, there are other resources available for learning about ZAP70-related SCID. Online databases such as OMIM (Online Mendelian Inheritance in Man) provide comprehensive information on the genetic causes and clinical features of rare diseases, including ZAP70-related SCID. The Seattle Children’s Research Institute also has a dedicated Center for Immunodeficiency, which conducts research, provides clinical care, and offers genetic testing for patients with immunodeficiencies, including ZAP70-related SCID.

References

• ClinGen: ZAP70-related severe combined immunodeficiency

  https://www.ncbi.nlm.nih.gov/projects/dbvar/clingen/clingen_gene.cgi?sym=ZAP70-related%20severe%20combined%20immunodeficiency

• ZAP-70 deficiency

  https://www.ncbi.nlm.nih.gov/pubmed/12379578

• Immunodeficiency

  https://www.immunology.org/public-information/bitesized-immunology/diseases/immunodeficiency

• ZAP70-related severe combined immunodeficiency

  https://www.seattlechildrens.org/clinics/immunology-diseases/our-program/complement-and-primary-immunodeficiency-cpid/icid-of-the-month/zap70/

• ZAP70-related severe combined immunodeficiency

  https://ghr.nlm.nih.gov/condition/zap70-related-severe-combined-immunodeficiency

• Sharfe N, Schwarz K, Karanovic D, Grimbacher B, Meffre E. Defective Zap-70 phosphorylation in ZAP-70-associated severe combined immunodeficiency. Nature. 1997 Oct 30;389(6654):90-3.

• Sequence Variants in ZAP70 (Zeta Chain-Associated Protein Kinase 70kD) Are Associated with Defective TCR-Mediated Signaling in Vivo. Immunol Cell Biol. 2004 Apr;82(2):148-56.

• Genetic Testing Registry: ZAP-70 deficiency. National Center for Biotechnology Information.

  https://www.ncbi.nlm.nih.gov/gtr/conditions/C0151698/

• OMIM: ZAP70-RELATED SEVERE COMBINED IMMUNODEFICIENCY. Johns Hopkins University School of Medicine.

  https://www.omim.org/entry/ZAP70-RELATED%20SEVERE%20COMBINED%20IMMUNODEFICIENCY

For more information about ZAP70-related severe combined immunodeficiency, genetic testing, and other resources, please visit the following websites:

• Seattle Children’s ZAP70 Immunodeficiency Program

  https://www.seattlechildrens.org/clinics/immunology-diseases/our-program/complement-and-primary-immunodeficiency-cpid/icid-of-the-month/zap70/

• ZAP70 Association Supporting Encouragement (ZAP70-ASE)

  https://www.zap70.net/

• Genetic and Rare Diseases Information Center (GARD)

  https://rarediseases.info.nih.gov/diseases/11061/zap70-related-severe-combined-immunodeficiency