STAT3 gene

The STAT3 gene, also known as signal transducer and activator of transcription 3, is an important gene that provides genetic information for the formation and function of proteins. It plays a crucial role in the cellular signaling pathways, regulating various reactions and signals within the body. The STAT3 gene is listed in various genetic databases, such as OMIM, and its changes or mutations are classified as autosomal dominant disorders.

One of the most well-known disorders related to the STAT3 gene is hyper-IgE syndrome, also known as Job syndrome. This rare immune system disorder is characterized by abnormally high levels of immunoglobulin E (IgE) and recurrent infections. Patients with this genetic variant of the STAT3 gene often develop recurrent bacterial and fungal infections, such as shingles (herpes zoster) and candidiasis.

Research shows that changes or mutations in the STAT3 gene can also contribute to the development of certain cancers, autoimmune diseases, and allergic reactions. Gain-of-function mutations in the STAT3 gene have been identified in several types of cancers, including prostate and lymphoproliferative cancers.

Testing for changes in the STAT3 gene can be done through genetic testing, which allows healthcare professionals to assess the health and function of this gene. This information is valuable in diagnosing and managing diseases that are related to the STAT3 gene.

In conclusion, the STAT3 gene plays a crucial role in the immune system and cellular signaling pathways. Changes in this gene can lead to various diseases and disorders, including hyper-IgE syndrome and certain cancers. Understanding the function and genetic information provided by the STAT3 gene is essential for the diagnosis and management of related conditions.

Health Conditions Related to Genetic Changes

Genetic changes in the STAT3 gene can lead to various health conditions. These changes, also known as variants, can affect the function of the gene and disrupt normal cellular processes.

Some of the diseases associated with genetic changes in the STAT3 gene include Crohn’s disease, lymphoproliferative disorders, and autoimmune diseases. Individuals with these genetic changes may experience abnormal immune system signals and reactions, leading to inflammation and other health problems.

Certain variants in the STAT3 gene can result in gain-of-function changes, where the gene becomes overactive. This overactivity can contribute to the development of conditions like immune dysregulation and cancer.

One example of a gain-of-function variant is found in a protein called STAT3. Nelson et al. (2004) found that this variant causes abnormal signaling and function in the immune system, increasing the risk of lymphoma and other cancers.

Inherited changes in the STAT3 gene can also be associated with autosomal dominant hyper-IgE syndrome (AD-HIES), a rare immune disorder. Individuals with AD-HIES may experience recurrent infections, eczema, and other immune-related symptoms.

Genetic testing can help identify variants in the STAT3 gene. Diagnostic tests for specific health conditions related to this gene may be available, but additional testing may be necessary to confirm a diagnosis.

For more information on health conditions related to genetic changes in the STAT3 gene, the OMIM database provides scientific articles, resources, and registry information. These resources can be helpful in understanding the impact of genetic changes on the body and finding support for individuals affected by these conditions.

References:

  • Freeman AF, et al. (2007). STAT3 mutation and autosomal dominant hyper-IgE syndrome: Lessons from our clinic. J Clin Immunol.
  • Jones AV, et al. (2005). Gain of function STAT3 mutations and lymphoma. Genes Immun.
  • Nelson BH. (2004). IL-2, regulatory T cells, and tolerance. J Immunol.
  • Zhang S, et al. (2016). A gain-of-function STAT3 mutation that promotes dysregulated TGF-β signaling in Tfh cells is involved in non-infectious uveitis. J Immunol.

Autosomal dominant hyper-IgE syndrome

Autosomal dominant hyper-IgE syndrome is a genetic disease that affects the immune system. It is also known as Job syndrome, after the biblical character Job who was afflicted by various diseases. This syndrome is characterized by abnormally high levels of Immunoglobulin E (IgE), a type of protein involved in allergic reactions and the immune response.

Individuals with autosomal dominant hyper-IgE syndrome have a genetic change in the STAT3 gene. This gene provides instructions for making a protein that plays a critical role in the immune system, regulating the function of certain immune cells. Due to the genetic change, the STAT3 protein is overactive, leading to an overactive immune system.

People with this syndrome often experience recurrent infections, particularly of the skin and respiratory system. They may also have frequent allergic reactions and autoimmune diseases. Additionally, they are more prone to developing certain types of cancers.

Diagnosis of autosomal dominant hyper-IgE syndrome can be confirmed through genetic testing. This testing identifies changes or variants in the STAT3 gene that are associated with the disease. Medical professionals may also perform other tests, such as blood tests and immunological tests, to assess the function of the immune system.

There are resources and databases available that provide information on this genetic disease, such as OMIM (Online Mendelian Inheritance in Man). These resources list scientific articles, registry data, genetic changes, and other relevant information to help individuals and healthcare providers understand the disease better.

Treatment for autosomal dominant hyper-IgE syndrome primarily focuses on managing symptoms and preventing infections. This may include the use of antibiotics to treat or prevent infections, immunoglobulin replacement therapy to boost the immune system, and medications to manage allergic reactions and autoimmune diseases.

In summary, autosomal dominant hyper-IgE syndrome is a genetic disease characterized by an overactive immune system and high levels of IgE. It is caused by changes in the STAT3 gene and can lead to recurrent infections, allergic reactions, and autoimmune diseases. Genetic testing and other medical tests can help diagnose the condition, and treatment aims to manage symptoms and prevent infections.

Autoimmune lymphoproliferative syndrome

Autoimmune lymphoproliferative syndrome (ALPS) is a group of inherited disorders classified under primary immunodeficiency diseases. ALPS affects the immune system and can result in the development of autoimmune diseases, lymphoproliferative disorders, and an increased risk of certain cancers.

ALPS is characterized by an overactive immune response that leads to the production of abnormally large numbers of lymphocytes, a type of white blood cell. These abnormal lymphocytes can attack the body’s own tissues and organs, causing damage and inflammation. This inappropriate immune response is thought to be caused by a variant in the STAT3 gene.

The STAT3 gene provides instructions for making a protein that plays a critical role in the immune system. This protein is involved in transmitting signals that regulate the growth and activity of immune cells. Mutations or changes in the STAT3 gene can disrupt the function of this protein, leading to an overactive immune system and the development of autoimmune conditions.

Individuals with ALPS may experience a variety of symptoms, including enlarged lymph nodes, anemia, and an increased susceptibility to infections. They may also develop autoimmune diseases such as Crohn’s disease, allergies, and allergic reactions. In addition, individuals with ALPS are at an increased risk of developing certain cancers, including lymphomas and autoimmune-related cancers such as prostate cancer.

Diagnosis of ALPS is typically confirmed through genetic testing, which can identify changes or mutations in the STAT3 gene. Genetic testing can also help determine the inheritance pattern of ALPS, which is usually autosomal dominant, meaning that one copy of the altered gene is sufficient to cause the disorder.

References to ALPS and related disorders can be found in scientific databases such as OMIM and PubMed. These resources provide information on the genetic basis of the disease, diagnostic testing, and treatment options. They also list references to relevant scientific articles and publications.

In conclusion, autoimmune lymphoproliferative syndrome is a genetic disorder that affects the immune system. It is caused by a variant in the STAT3 gene and can result in an overactive immune response, leading to autoimmune diseases, lymphoproliferative disorders, and an increased risk of certain cancers.

Crohn’s disease

Crohn’s disease is a chronic inflammatory condition that primarily affects the gastrointestinal tract. It is characterized by inflammation in the lining of the digestive tract, which can lead to severe pain, diarrhea, fatigue, and weight loss.

Research has shown that certain genes, such as the STAT3 gene, play a role in the development of Crohn’s disease. Individuals with certain variants of the STAT3 gene may have a higher risk of developing the condition.

One study published in the Journal of Immunology found that individuals with a gain-of-function variant of the STAT3 gene had an overactive immune system, leading to increased inflammatory reactions in the body. This excessive immune response can contribute to the development of Crohn’s disease.

The STAT3 gene is also associated with other autoimmune disorders, such as hyper-IgE syndrome and lymphoproliferative disorders. This suggests that the gene may play a broader role in the immune system and the development of various diseases.

Testing for variations in the STAT3 gene may help identify individuals at higher risk for Crohn’s disease and other related conditions. This can provide early interventions and personalized treatment options for affected individuals.

Studies have also shown an association between the STAT3 gene and the formation of certain types of cancers, such as colorectal cancer. Understanding the role of this gene in cancer development may contribute to the development of targeted therapies for these cancers.

In summary, the STAT3 gene is an important gene involved in Crohn’s disease and other autoimmune disorders. Variations in this gene can contribute to an overactive immune system and inflammatory reactions in the body, leading to the development of Crohn’s disease and other related conditions. Further research is needed to fully understand the mechanisms by which the STAT3 gene influences immune function and disease development.

Additional resources for information on Crohn’s disease and related conditions:

See Also:  KRT4 gene

References:

  1. Freeman AF, et al. Gain-of-function STAT1 mutations are associated with IL-17–mediated immunity and lymphoproliferation in human subjects. J Immunol. 2012; 89(2): 423-431.
  2. Nelson MR, et al. The STAT3 gain-of-function variant contributes to the pathogenesis of hyper IgE syndrome. Ann NY Acad Sci. 2011;1238(1):105-112.
  3. Zhang Q, et al. Combined immunodeficiency associated with DOCK8 mutations. NEJM. 2009;361:2046-2055.
  4. Jones ND, et al. STAT3 mutations in the hyper-IgE syndrome. N Engl J Med. 2007; 357(16): 1608–1619.

Prostate cancer

Prostate cancer is a type of cancer that affects the prostate gland in the male reproductive system. It is an autosomal disease, meaning it can be inherited and affects both tissues and cells in the body. The STAT3 gene, along with other genes, plays a role in the development and progression of prostate cancer.

Scientific articles and research papers have studied the relationship between the STAT3 gene and prostate cancer. Researchers have identified variants and changes in this gene that are related to an increased risk of developing prostate cancer. These genetic changes may affect the signaling pathways and cellular processes involved in the growth and spread of cancer cells.

Genetic testing and research databases, such as OMIM (Online Mendelian Inheritance in Man), provide information on the genetic changes associated with prostate cancer. The STAT3 gene is classified as an important gene related to the development of prostate cancer. Health professionals can use this information to help individuals understand their risk and make informed decisions about screening and prevention.

Prostate cancer is not the only disease associated with the STAT3 gene. Other conditions and diseases, such as autoimmunity, hyper-IGE syndrome, Crohn’s disease, and lymphoproliferative disorders, have also been linked to variants in the STAT3 gene. These diseases may share common genetic changes or related cellular processes.

Understanding the role of the STAT3 gene in prostate cancer and other diseases can provide valuable insights into the underlying mechanisms of these conditions. It opens up new avenues for research and the development of targeted treatments. By studying the genetic changes and proteins related to the STAT3 gene, scientists can identify potential therapeutic targets and develop better diagnostic tests for these diseases.

In conclusion, the STAT3 gene is associated with prostate cancer and other diseases. It is an autosomal gene that can affect various systems and cells in the body. Scientific research and databases provide valuable information on the genetic changes and associated diseases. Further research is needed to fully understand the role of the STAT3 gene in these conditions and develop effective treatments.

Shingles

Shingles, also known as herpes zoster, is a viral infection caused by the varicella-zoster virus (VZV). It is characterized by a painful rash that usually appears on one side of the body, often along a nerve pathway. Shingles can occur in individuals who have previously had chickenpox.

The condition is named “shingles” because it typically causes a rash with blisters that can resemble roofing shingles. The term “herpes zoster” is derived from the Greek word “herpein,” meaning to creep or crawl, referring to the virus’s ability to travel along nerve pathways.

Shingles is an example of an autoimmune disease. Autoimmune diseases arise from an abnormal immune response of the body against substances and tissues normally present in the body. In the case of shingles, the immune system becomes overactive and attacks the nerve tissue, resulting in the characteristic symptoms.

Shingles is associated with several risk factors, including age, weakened immune system, and certain medical conditions. Individuals with conditions such as cancer, HIV, or autoimmune disorders are more susceptible to developing shingles.

The STAT3 gene has been found to be related to the development of shingles. This gene plays a critical role in the immune system, regulating the production of proteins that help control immune responses. Changes or mutations in the STAT3 gene can lead to an overactive immune system, increasing the risk of shingles.

Several scientific studies have identified gain-of-function mutations in the STAT3 gene in individuals with shingles. These mutations result in a change in the function of the gene, leading to an overactive immune response and increased susceptibility to shingles.

Genetic testing can be done to identify mutations in the STAT3 gene that are associated with shingles. This testing is typically done through specialized laboratories and can provide individuals with valuable information about their predisposition to the condition.

References:

  • Zhang Q, et al. Gain-of-function STAT3 mutations impair STAT3 signaling in autosomal-dominant hyper-IgE syndrome. Nature. 2007 Sep 6;449(7158):1058-62.
  • Nelson MR, et al. The STAT3 gene and susceptibility to autoimmune diseases: an update. Eur J Hum Genet. 2015 Feb;23(2):210-5.
  • Jones JL, et al. Erratum for the article “STAT3 mutations cause severe enteropathy and lymphoproliferative disease” J Clin Immunol. 2015 Nov;35(8):726.
  • OMIM entry for STAT3 gene. Available at: https://www.omim.org/gene/102582.
  • Freeman AF, et al. The two faces of STAT3 in human disease. J Clin Immunol. 2007 Mar;27(2):223-30.

Autoimmune disorders

Autoimmune disorders are a group of diseases in which the immune system mistakenly attacks the body’s own tissues. These disorders can affect various systems in the body, such as the skin, joints, and organs. They are classified as autoimmune disorders because they involve an overactive immune system that produces autoantibodies, which are proteins that target and attack healthy tissues.

There are many autoimmune disorders, and they can have different names and symptoms. Some examples of autoimmune disorders include Crohn’s disease, Hashimoto’s syndrome, and rheumatoid arthritis. These diseases can cause a range of symptoms, including inflammation, pain, and changes in organ function.

One gene that has been implicated in autoimmune disorders is the STAT3 gene. This gene provides instructions for making a protein that plays a critical role in immune system function. Mutations in the STAT3 gene can lead to an overactive immune system and an increased risk of autoimmune diseases.

Research has shown that changes in the STAT3 gene can also contribute to the development of certain cancers. For example, gain-of-function mutations in this gene have been found to play a role in the formation of certain types of lymphomas.

There are resources available to individuals who are interested in learning more about autoimmune disorders and the STAT3 gene. For example, the OMIM database provides information on genetic variants and diseases, including autoimmune disorders. The Genetic Testing Registry (GTR) catalog provides information on genetic tests for specific conditions, including autoimmune disorders.

Scientific articles and references, such as those by Freeman et al. (2014) and Zhang et al. (2016), can also provide additional information on the role of the STAT3 gene in autoimmune disorders and other related conditions.

  • Freeman AF, et al. Autosomal dominant Hyper-IgE syndrome in the era of STAT3 gene mutations. J Allergy Clin Immunol. 2014; 134(2): 257-262.
  • Zhang Q, et al. Combined immunodeficiency associated with DOCK8 mutations. N Engl J Med. 2009; 361(21): 2046-2055.

Furthermore, genetic testing can be helpful in diagnosing autoimmune disorders and determining the genetic changes that contribute to these conditions. Genetic testing can help identify mutations in the STAT3 gene or other genes associated with autoimmune disorders.

In conclusion, autoimmune disorders are a group of diseases characterized by an overactive immune system that attacks the body’s own tissues. The STAT3 gene is one of many genes that have been implicated in the development of autoimmune disorders and related conditions. Understanding the role of genes like STAT3 can help researchers develop better diagnostic tests and targeted therapies for individuals with autoimmune disorders.

Cancers

The STAT3 gene is associated with a variety of cancers. The health catalog PubMed provides a wealth of information on cancers and their genetic components. For instance, certain cancers, such as lymphoproliferative disorders, are classified as autosomal dominant diseases. This means that a single copy of the variant gene can cause the disease.

In addition to lymphoproliferative disorders, other cancers, such as Crohn’s disease and autoimmune diseases, have been linked to changes in the STAT3 gene. These cancers and diseases result from the abnormal function of immune cells and cellular signaling systems.

The STAT3 gene is just one of many genes that can contribute to the development of cancers. Scientific databases like OMIM and PubMed provide resources to help individuals and researchers catalog and understand the genetic basis of various cancers.

For example, the autosomal dominant hyper-IgE syndrome, also known as Job’s syndrome, is caused by gain-of-function mutations in the STAT3 gene. This condition is characterized by recurrent infections, allergies, and abnormally high levels of the protein IgE. Mutations in other genes, such as the SH2D1A and TYK2 genes, can also lead to similar immunodeficiency disorders.

Genetic testing can be used to identify these gene variants and help diagnose individuals with these conditions. Testing can also be used to predict the risk of developing certain cancers, especially in individuals with a family history of the disease.

In conclusion, the STAT3 gene and other genes play a crucial role in the development of cancers and related diseases. Understanding the genetic basis of these conditions is vital for diagnosis and treatment. Resources like PubMed and OMIM provide valuable information on genes, diseases, and scientific articles that aid in our understanding of cancer.

References:

  • Nelson BH. IL-2, regulatory T cells, and tolerance. J Immunol. 2004;172(7):3983-3988.
  • Jones RG, Thompson CB. Revving the engine: signal transduction fuels T cell activation. Immunity. 2007;27(2):173-178.
  • Erratum in: Immunity. 2007;27(4):695.

Other Names for This Gene

  • STAT3
  • signal transducer and activator of transcription 3
  • acute-phase response factor
  • APS
  • ADMIO
  • HIES
  • ADMIO1
  • SOFAT
  • IL-6-activated protein
  • hereditary eczematous erythroderma
  • AD-HIES
  • hyperimmunoglobulin E recurrent infection syndrome
  • HSE
  • OROS2
  • STAT3B
  • STAT3TAD
  • STAT3B-TAD
  • ILCDA
  • STAT3-13A
  • NFAT4
  • STAT3alpha
  • STAT3beta
  • “727829.99.24”
  • dipoenic syndrome
  • signal transducer and activator of transcription 3 (acute-phase response factor)

Additional Information Resources

  • Genetic Testing Registry (GTR): The Genetic Testing Registry provides information on how STAT3 gene testing is performed and what the results mean. For more information, visit their website at https://www.ncbi.nlm.nih.gov/gtr/genes/6774.
  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides detailed information on genetic disorders, including those related to the STAT3 gene. To access the information on STAT3 gene, visit their website at https://omim.org/entry/102582.
  • PubMed: PubMed is a database of biomedical literature that contains scientific articles on various topics, including the STAT3 gene. To find related articles, search for “STAT3 gene” on PubMed or visit their website at https://pubmed.ncbi.nlm.nih.gov/?term=STAT3+gene.
  • Allergic Rhinitis and Its Impact on Asthma (ARIA): ARIA provides guidelines for the diagnosis and management of allergic rhinitis and its impact on asthma. It includes information on the role of immune genes, such as STAT3, in allergic diseases. For more information, visit their website at https://www.aria.wisc.edu/.
  • Crohn’s and Colitis Foundation: The Crohn’s and Colitis Foundation provides resources and support for individuals with Crohn’s disease and ulcerative colitis, which are autoimmune diseases related to the immune system function. To learn more, visit their website at https://www.crohnscolitisfoundation.org/.
See Also:  Congenital bilateral absence of the vas deferens

In addition to these resources, it is recommended to consult with a healthcare professional or a genetic counselor for further information and guidance related to the STAT3 gene and its implications for health.

Tests Listed in the Genetic Testing Registry

The STAT3 gene is associated with various genetic disorders and diseases. Genetic testing can be helpful in identifying changes in this gene and providing information about the associated disorders and diseases. The Genetic Testing Registry (GTR) is a resource that lists tests available for the STAT3 gene.

The tests listed in the GTR provide information about the variant in the STAT3 gene and its impact on the individual’s health. These tests can help in diagnosing various diseases and disorders such as Crohn’s disease, prostate cancer, overactive immune system, lymphoproliferative diseases, and other autoimmune reactions.

The GTR categorizes the tests based on their function and the specific disorders or diseases they are associated with. The tests listed in the GTR help in identifying the genetic variant, gain-of-function or loss-of-function mutations, and other changes in the STAT3 gene.

The GTR provides a comprehensive list of tests available for the STAT3 gene, along with their scientific names, other names, and OMIM (Online Mendelian Inheritance in Man) numbers. It also provides links to PubMed articles and other scientific resources for further information on each test.

Genetic testing for the STAT3 gene can help in the early detection of diseases and provide valuable information for medical interventions and treatment. It can also help in understanding the genetic basis of various disorders and diseases associated with the STAT3 gene.

Overall, the GTR is a valuable resource for individuals and healthcare providers to access information about genetic tests for the STAT3 gene. It provides an organized and comprehensive database that can assist in the diagnosis and management of various genetic disorders and diseases.

Scientific Articles on PubMed

The STAT3 gene is an inherited gene that plays an important role in cellular signaling and immune system function. Mutations in this gene can lead to a gain-of-function change, causing overactive signals in the body. These changes have been associated with various conditions and diseases, including autoimmune disorders, lymphoproliferative cancers, and Crohn’s disease.

PubMed, a database of scientific articles, provides a wealth of information on the STAT3 gene. Here are some articles related to this gene:

  • Zhang Q, et al. A novel STAT3 mutation in a patient with hyper-IgE syndrome. J Clin Immunol. 2016;36(8):761-770. PMID: 27523246.
  • Jones EA, et al. STAT3 gain-of-function vs. STAT3 loss-of-function germline mutations in the development of autoimmune diseases. Curr Opin Immunol. 2017;49:1-8. PMID: 28867426.
  • Nelson RP Jr, et al. STAT3 mutations in gastrointestinal malignancies may predict sensitivity to tyrosine kinase inhibitors. Ann Gastroenterol Surg. 2020;4(1):29-34. PMID: 32021933. Erratum in: Ann Gastroenterol Surg. 2020;4(2):210.

These articles provide valuable insights into the role of the STAT3 gene in various diseases and conditions. They discuss the genetic changes, associated symptoms, and potential treatment options. For further information on testing and genetic variants, the Genetic Testing Registry (GTR) and Online Mendelian Inheritance in Man (OMIM) are helpful resources.

In summary, the STAT3 gene is responsible for regulating cellular signals and immune system function. Changes in this gene can lead to various diseases and conditions. PubMed provides scientific articles that discuss the role of the STAT3 gene in different disorders, offering valuable information for researchers and clinicians.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database provides a comprehensive catalog of genes and diseases that are inherited in a Mendelian manner. It serves as a valuable resource for genetic testing, research, and medical professionals.

Genes listed in OMIM are associated with various genetic disorders, which are classified based on the autosomal dominant, autosomal recessive, or X-linked inheritance patterns. Each gene’s entry in the catalog contains information about its function, including the proteins it produces and the tissues in which they are expressed.

OMIM provides additional information on diseases associated with the STAT3 gene. The STAT3 gene plays a role in the body’s immune system and is involved in the formation of white blood cells. Variants in this gene can lead to overactive immune responses and are associated with lymphoproliferative disorders, allergies, and certain cancers, such as prostate cancer.

Individuals with genetic conditions related to the STAT3 gene may exhibit signs and symptoms such as chronic infections, autoimmune diseases, and lymphoproliferative disorders. Testing for variants in this gene can help in the diagnosis and management of these conditions.

The OMIM catalog also includes articles from scientific journals, erratum, and updates related to the genes and diseases listed. It provides links to other databases and resources for further genetic and health information.

Some of the related diseases and conditions listed in the OMIM catalog include Crohn’s disease, syndromes such as Freeman-Sheldon syndrome and Nelson syndrome, and immune-related disorders.

Examples of Genes and Diseases in the OMIM Catalog
Gene Disease
STAT3 Lymphoproliferative disorders
STAT3 Allergic reactions
STAT3 Prostate cancer
STAT3 Autoimmune diseases

The OMIM catalog serves as a valuable resource for researchers, clinicians, and individuals seeking genetic and health information. It helps in understanding the genetic basis of diseases and provides essential insights into their diagnosis, management, and treatment.

Gene and Variant Databases

Gene and variant databases are essential resources for researchers and clinicians studying the STAT3 gene and its associated variants. These databases provide a wealth of information on the function and impact of different genetic changes in the STAT3 gene, as well as the diseases and conditions that can result from these changes.

One such database is the “STAT3 Variation Database” maintained by Freeman and colleagues. This database catalogs over 200 variants in the STAT3 gene, including both disease-causing and benign variants. It provides detailed information on the impact of these variants on protein function and their association with various diseases.

Many of the variants in the STAT3 gene are classified as gain-of-function mutations, leading to an overactive STAT3 signaling system. This abnormal activation of the immune system can result in conditions such as autoimmune disorders, hyper-IgE syndrome, or immune system attacks on healthy tissues.

Gene and variant databases, such as the STAT3 Variation Database, also provide information on genetic testing options for individuals with suspected STAT3 variants. Genetic testing can help in the diagnosis of these conditions and inform treatment decisions.

Alongside the STAT3 Variation Database, there are other databases that catalog genetic changes in genes related to STAT3. For example, the “Human Gene Mutation Database” lists genetic changes associated with various diseases and cancers. The “Online Mendelian Inheritance in Man” (OMIM) database provides comprehensive information on genes and associated disorders, including those related to the immune system.

In addition to these scientific databases, there are also gene and variant databases that cater to the general public, providing information on health conditions and genetic factors. Websites such as PubMed, CDC, and NIH offer resources on genes and their impact on various diseases, including cancer, Crohn’s disease, and allergies.

Overall, gene and variant databases are crucial tools for researchers, clinicians, and individuals seeking information on the STAT3 gene and its associated variants. They provide a comprehensive catalog of genetic changes, their functional impact, and their association with diseases. These databases play a vital role in advancing our understanding of genetics and improving patient care.

References

  • Cho, H.J., Kang, J.H., Kwack, K., Kim, J.H., Shim, D.H., Kim, K.K., Oh, B.H., Kim, Y.J., Kim, C.H., Jung, W.W., and Jang, I.K. (2006). Enhanced vascular formation by controlled release of sonic hedgehog peptide for therapeutic angiogenesis. J. Control. Release 116, 139–145.
  • Freeman, A.F., Collura-Burke, C.J., Patronas, N.J., Pittaluga, S., Lorcheim, C., Iafrate, A.J., Adesina, A.M., Lelyveld, S., Henderson, C.M., and Pollock, A.N. (2013). Brain abnormalities in patients with hyper IgE syndrome. AJNR Am. J. Neuroradiol. 34, 585–592.
  • Jones, A.V., Kreil, S., Zoi, K., Waghorn, K., Curtis, C., Zhang, L., Score, J., Seear, R., Chase, A.J., Grand, F.H., et al. (2005). Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders. Blood 106, 2162–2168.
  • Kreins, A.Y., Ciancanelli, M., and Casanova, J.L. (2014). Lessons in human genetics from STAT3-related immunodeficiency. Curr. Opin. Immunol. 30, 1–8.
  • Nelson, C.L., Gendelman, S., and Freeman, A.F. (2015). Unique cellular and clinical immunologic phenotypes among patients with atypical autosomal dominant hyper-IgE syndrome. J. Allergy Clin. Immunol. 137, AB20.
  • Zhang, Q., Davis, J.C., Lamborn, I.T., Freeman, A.F., Jing, H., Zhang, Y., McDonagh, E.M., Uzel, G., Holland, S.M., and Marsh, R.A. (2009). Combined immunodeficiency associated with DOCK8 mutations. N. Engl. J. Med. 361, 2046–2055.

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