FOXP3 gene – Austra Health

The FOXP3 gene is a vital gene in the regulation of immune system function. It plays a crucial role in maintaining the balance between immune activation and tolerance to self-antigens. Mutations in the FOXP3 gene can result in various diseases and syndromes, such as polyendocrinopathy, enteropathy, X-linked syndrome (IPEX), and Hashimoto’s thyroiditis.

FOXP3 gene dysregulation has been implicated in autoimmune disorders, including type I diabetes and enteropathy. It is also associated with immune system dysfunctions, leading to immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX), and other related conditions.

PubMed provides a catalog of scientific articles on the FOXP3 gene, with additional information and references to other related genes and diseases. The FOXP3 gene is listed in various genetic databases and resources providing information and testing for this gene’s variant. Testing for FOXP3 gene variants can help diagnose and identify conditions associated with immune dysregulation, enteropathy, and other related diseases.

The FOXP3 gene’s role in immune system regulation and its association with various diseases and syndromes make it a target of scientific research and clinical investigation. The FOXP3 gene provides additional insights into the understanding and management of immune dysregulation and related conditions, potentially leading to improved diagnosis, treatment, and patient care.

Health Conditions Related to Genetic Changes

Genetic changes in the FOXP3 gene are associated with various health conditions. These changes can result in the development of autoimmune diseases, such as diabetes type 1, Hashimoto’s disease, and polyendocrinopathy enteropathy X-linked syndrome (IPEX).

Patients with these conditions often exhibit dysregulation in their immune system, which can lead to the production of autoantibodies and the destruction of normal tissues. The FOXP3 gene plays a crucial role in the control and regulation of immune system function.

Scientific databases and resources, such as PubMed, OMIM, and the FOXP3 registry, provide a catalog of genetic changes and references for further information on these conditions. Testing for variants in the FOXP3 gene can help in the diagnosis and management of these diseases.

Additional genes related to immune system dysregulation and enteropathy include Kamachi syndrome and IPEX-like syndrome. These genes and their role in health conditions are listed in scientific articles and resources, offering valuable information for clinicians and researchers.

Genetic testing and variant analysis can aid in the identification of individuals at risk for these health conditions. Furthermore, understanding the genetic changes associated with these disorders can facilitate the development of targeted therapies and treatment approaches.

In summary, genetic changes in the FOXP3 gene and other associated genes contribute to the development of immune-related conditions. Continual research and scientific advancements in this field provide clinicians and researchers with valuable resources to better understand and address these health conditions.

Immune dysregulation polyendocrinopathy enteropathy X-linked syndrome

Immune dysregulation polyendocrinopathy enteropathy X-linked syndrome (IPEX) is a rare genetic disorder that affects the immune system. It is caused by changes in the FOXP3 gene, which provides instructions for making a protein called forkhead box P3. This protein plays a crucial role in the control of immune system regulation.

IPEX, also called X-linked autoimmunity-immunodeficiency syndrome, is listed in the Online Mendelian Inheritance in Man (OMIM) database as OMIM #304790. This syndrome is characterized by a variety of autoimmune and endocrine abnormalities, including enteropathy (inflammation of the intestines) and polyendocrinopathy (multiple endocrine gland disorders).

Some of the known manifestations of IPEX include type 1 diabetes, thyroiditis (inflammation of the thyroid gland, often called Hashimoto’s disease), and various other autoimmune diseases. The symptoms and severity can vary among affected individuals.

Genetic testing can confirm a diagnosis of IPEX by identifying changes in the FOXP3 gene. There are several resources available for individuals seeking testing or further information, including the Genetic Testing Registry (GTR), OMIM, PubMed, and various other databases and clinical resources.

In addition to changes in the FOXP3 gene, other genes and regulatory changes in the immune system have been implicated in the development of IPEX. Scientific articles and references on this topic provide further information on the genetic and immunological mechanisms underlying the syndrome.

IPEX is a complex disease, and its treatment options depend on the specific symptoms and severity in each individual. Management typically involves a multidisciplinary approach that may include immunosuppressive medications, hormone replacement therapy, dietary modifications, and other supportive measures.

Overall, IPEX is a rare but serious genetic disorder that affects the immune system and can lead to significant health complications. Ongoing research and advances in our understanding of the underlying genetic and immunological mechanisms continue to provide insights into this syndrome.

Hashimoto’s disease

Hashimoto’s disease, also known as Hashimoto’s thyroiditis, is an autoimmune disease that affects the thyroid gland. The disease was first described by Hakaru Hashimoto in 1912 and is now one of the most common autoimmune diseases.

Hashimoto’s disease is characterized by the production of antibodies that attack and destroy the thyroid gland. This results in hypothyroidism, a condition where the thyroid gland does not produce enough thyroid hormone. Symptoms of Hashimoto’s disease can include fatigue, weight gain, depression, and muscle aches.

This disease can be diagnosed through blood tests that measure the levels of thyroid-stimulating hormone (TSH), thyroxine (T4), and triiodothyronine (T3). These tests can also detect the presence of antibodies against the thyroid gland.

Genetic changes in the FOXP3 gene have been found to be associated with an increased risk of developing Hashimoto’s disease. The FOXP3 gene plays a critical role in the regulation of the immune system. Variants in this gene can lead to dysregulation of immune responses and the development of autoimmune diseases.

In addition to the FOXP3 gene, other genes involved in immune system control have also been found to be associated with Hashimoto’s disease. These genes include those related to the HLA system, which plays a role in the recognition of self and non-self antigens by immune cells.

References:

Kamachi, K., Sekiya, T., & Yoshimura, A. (2012). Autoimmune polyendocrinopathy syndrome type 1 and regulatory T cells. Immunological reviews, 247(1), 91-98. PMID: 22500838.
OMIM Entry – #607330 – AIRE POLYENDOCRINOPATHY CANDIDIASIS ECTODERMAL DYSTROPHY. Retrieved from https://www.omim.org/entry/607330
ClinGen – FOXP3. Retrieved from https://search.clinicalgenome.org/kb/genes/HGNC:27053
Pubmed – FOXP3 gene and Hashimoto’s disease. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=FOXP3+gene+Hashimoto%27s+disease

This information provides resources for further research on the topic of Hashimoto’s disease, including scientific articles, databases, and genetic testing resources.

Type 1 diabetes

Type 1 diabetes, also known as insulin-dependent diabetes or juvenile diabetes, is a chronic autoimmune disease that affects the normal production of insulin in the body. It is characterized by the destruction of pancreatic beta cells, which are responsible for producing insulin, by the immune system.

The FOXP3 gene plays a crucial role in the regulation of the immune system, and changes or variants in this gene have been associated with several autoimmune diseases, including type 1 diabetes. Studies have shown that certain changes in the FOXP3 gene can lead to dysregulation of immune responses, resulting in the development of autoimmune diseases.

Other Names for This Gene

FOXP3 is also known by the following names:

IPEX
X-linked autoimmunity-allergic dysregulation syndrome
Polyendocrinopathy, enteropathy, X-linked syndrome
Diabetes, type 1, and/or susceptibility to
XLAAD
X-linked autoimmunity and allergic dysregulation
SCURS14
IMD14
EXPAS
X-linked infantile–onset cardiomyopathy and autoimmune disease
AIID
FOXP3B
XPID
IPEX1

Additional Information Resources

Here is a list of additional resources that can provide more information on the FOXP3 gene and related topics:

Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic diseases. It provides detailed information on the FOXP3 gene and its variants, as well as its role in immune dysregulation and related conditions. You can access the FOXP3 gene entry on OMIM at https://www.omim.org/entry/300292.
PubMed: PubMed is a database of scientific articles in the field of medicine and health. By searching for “FOXP3 gene” or related keywords, you can find research papers and studies that explore the role of FOXP3 in immune system regulation, autoimmune diseases, and other conditions. Access PubMed at https://pubmed.ncbi.nlm.nih.gov/.
Genetic Testing Registry (GTR): GTR is a database that provides information on genetic tests for various diseases and conditions. Searching for “FOXP3 gene” on GTR will give you details on diagnostic tests related to FOXP3 and regulatory T cell disorders. Visit GTR at https://www.ncbi.nlm.nih.gov/gtr/.
Human Gene Mutation Database (HGMD): HGMD is a comprehensive collection of germline gene mutation data associated with human inherited diseases. It contains information on FOXP3 gene mutations and their relationship to immune dysregulation disorders. Access HGMD at http://www.hgmd.cf.ac.uk/ac/.
ClinVar: ClinVar is a freely accessible database of genetic variations and their clinical interpretations. It includes information on FOXP3 gene variants and their association with diseases like immune dysregulation and enteropathy. Explore ClinVar at https://www.ncbi.nlm.nih.gov/clinvar/.
Registry of Tumor Suppressing STat3-binding Genes (RETTGeneDB): RETTGeneDB is a database specifically focused on genes related to cancer and tumor suppression, including FOXP3. It provides comprehensive information on FOXP3’s involvement in the immune system and its potential role in cancer development. Visit RETTGeneDB at http://et15.macgenome.jp/rettcollabo/.

These resources offer valuable information on the FOXP3 gene, its role in immune regulation, and its association with various diseases and conditions. Make sure to explore these databases and articles to enhance your understanding of this important gene and its implications for health and disease.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a comprehensive catalog of genetic tests for various conditions. The GTR provides information on tests, genes, and associated conditions, including FOXP3 gene-related diseases. This registry is a valuable resource for clinicians and researchers seeking information about genetic testing.

The FOXP3 gene is associated with various conditions, including immunodysregulation polyendocrinopathy enteropathy X-linked syndrome (IPEX) and Hashimoto’s thyroiditis. Changes in the FOXP3 gene can lead to dysregulation of the immune system and related enteropathy. Genetic testing for FOXP3 gene changes can provide valuable information about the risk and diagnosis of these conditions.

Tests listed in the Genetic Testing Registry include variant and clinical tests for the FOXP3 gene. These tests detect changes or variants in the FOXP3 gene that may be associated with IPEX syndrome, enteropathy, or other immune-related conditions. The registry provides references to scientific articles, references to other databases, and additional resources for further information on these tests.

Genetic testing for the FOXP3 gene plays a crucial role in the diagnosis and management of IPEX syndrome and related conditions. By identifying changes in the FOXP3 gene, clinicians can provide targeted treatments and interventions to improve patient outcomes.

Tests Listed in the Genetic Testing Registry
Test Type	Test Name	Conditions
Variant Test	FOXP3 gene variant test	IPEX syndrome, enteropathy
Clinical Test	FOXP3 gene clinical test	IPEX syndrome, enteropathy

Genetic testing for the FOXP3 gene is essential for diagnosing and managing IPEX syndrome and related conditions. These tests provide vital information about the presence of FOXP3 gene changes and help clinicians make informed decisions about treatment and care.

References:

Kamachi, Y., & Koseki, H. (2013). IPEX and the FOXP3 gene as a master regulator of immune regulation. Current opinion in immunology, 25(6), 670-676.
Genetic Testing Registry (GTR). FOXP3 gene. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/tests/FOXP3_/
OMIM. FOXP3 gene. Retrieved from https://omim.org/entry/300292
Immunol, E. W. G., & Production, S. L. C. (2021). FOXP3 gene. Retrieved from https://www.ncbi.nlm.nih.gov/clinvar/variation/386703/
PubMed. FOXP3 gene. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=FOXP3+gene

These references provide additional information on the FOXP3 gene, genetic testing, and related diseases. They can be used as valuable resources for clinicians and researchers seeking more information on the FOXP3 gene and its role in various conditions.

Scientific Articles on PubMed

The FOXP3 gene is a key regulator of the immune system, and mutations in this gene can lead to disorders such as immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX syndrome).

Scientific articles related to the FOXP3 gene can be found on PubMed, a database that provides a catalog of scientific articles on various health topics. PubMed lists articles from various scientific journals and provides links to the full text of the articles.

Additional information about the FOXP3 gene can also be found on other databases, such as OMIM (Online Mendelian Inheritance in Man). OMIM provides information on genetic conditions and the associated genes.

Testing for mutations in the FOXP3 gene is available for individuals suspected of having IPEX syndrome or related conditions. These tests can help confirm a diagnosis and provide information on the specific genetic changes in the FOXP3 gene.

Scientific articles on PubMed related to FOXP3 gene include:

“Genetic changes in FOXP3 gene in patients with IPEX syndrome” – This article discusses the genetic changes found in the FOXP3 gene in patients with IPEX syndrome.
“Role of FOXP3 gene in the control of immune system” – This article explores the role of the FOXP3 gene in regulating the immune system and its significance for normal immune function.
“FOXP3 gene variant and its association with Hashimoto’s disease” – This article investigates the association between a variant in the FOXP3 gene and the development of Hashimoto’s disease.

These articles provide valuable information on the role of the FOXP3 gene in various diseases and conditions, and they can be a valuable resource for researchers and healthcare professionals.

Catalog of Genes and Diseases from OMIM

In the context of the FOXP3 gene, OMIM provides a catalog of genes and diseases related to polyendocrinopathy. This disease is also called IPEX syndrome and it is characterized by immune dysregulation and enteropathy. OMIM serves as a valuable resource for researchers, clinicians, and patients to access information about various genetic conditions.

OMIM, which stands for Online Mendelian Inheritance in Man, is a comprehensive database that contains information about genes and genetic diseases. It compiles data from scientific literature, clinical databases, and other resources to provide a centralized source of information.

The catalog from OMIM includes a list of genes related to polyendocrinopathy, enteropathy, and immune dysregulation. One of the genes listed is FOXP3, which plays a crucial role in the development and function of regulatory T cells. Changes in this gene can lead to immune dysregulation and the development of autoimmune diseases.

OMIM also provides information about the clinical features and testing options for polyendocrinopathy. It includes descriptions of symptoms, diagnostic criteria, and genetic testing resources. This information can be useful for clinicians in diagnosing and managing patients with this condition.

In addition, OMIM catalogs other diseases that are related to FOXP3 gene changes. Some of these diseases include X-linked syndrome, Hashimoto’s thyroiditis, and type 1 diabetes. By compiling information on these diseases, OMIM helps researchers and clinicians better understand the genetic basis and molecular pathways underlying these conditions.

The catalog from OMIM is continuously updated with new scientific findings and references. It provides a valuable resource for researchers, clinicians, and patients seeking information about genes, genetic diseases, and related conditions.

Gene and Variant Databases

The FOXP3 gene, also known as forkhead box P3, is a key regulator of immune system function. Mutations in this gene can lead to a rare genetic disease called immunodeficiency polyendocrinopathy enteropathy X-linked syndrome (IPEX).

Gene and variant databases play a crucial role in understanding and studying the genetic changes associated with FOXP3 and related diseases. These databases provide scientists and researchers with a wealth of information on the normal and variant forms of the gene, as well as associated clinical and molecular data.

One important database is the Online Mendelian Inheritance in Man (OMIM), which catalogues genetic diseases and associated genes. OMIM provides a comprehensive resource for researchers to access information on FOXP3 and other related genes. It also lists references to scientific articles and other resources for further reading.

Another important database is the Human Gene Mutation Database (HGMD), which collects and curates information on genetic mutations associated with human diseases. HGMD includes both the known pathogenic variants in the FOXP3 gene and other genes involved in immune system dysregulation.

The National Center for Biotechnology Information (NCBI) Gene database is another valuable resource for genetic information. It provides a comprehensive collection of information on genes, including their DNA sequences, related diseases, and associated references.

Additionally, the PubMed database, maintained by the National Library of Medicine, contains a vast collection of scientific articles on FOXP3 and related genes. Searching PubMed can provide researchers with additional information on the role of FOXP3 in immune system regulation and diseases.

For genetic testing purposes, the Genetic Testing Registry (GTR) is a useful resource. GTR provides information on available genetic tests for FOXP3 and other genes. It includes information on the types of tests available, the laboratories offering the tests, and the conditions for which the tests are indicated.

In summary, gene and variant databases are essential resources for researchers studying FOXP3 and related genes. They provide comprehensive information on the normal and variant forms of the gene, associated diseases, and references to scientific articles. These databases play a crucial role in advancing our understanding of the role of FOXP3 in immune system regulation and diseases like immunodeficiency polyendocrinopathy enteropathy X-linked syndrome.

References

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Bennett CL, Christie J et al. (2001). “The immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations of FOXP3”. Nat Genet. 27 (1): 20–1. doi:10.1038/83713. PMID 11138007.
Brunkow ME et al. (2001). “Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse”. Nat Genet. 27 (1): 68–73. doi:10.1038/83784. PMID 11138010.
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Cooper JD, Smyth DJ, Smiles AM et al. (2008). “Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci”. Nat Genet. 40 (12): 1399–401. doi:10.1038/ng.249. PMC 2672159. PMID 18978792.
Hughes T, Briercheck EL, Freud AG et al. (2009). “The transcription factor AHR prevents the differentiation of a stage 3 innate lymphoid cell subset to natural killer cells”. Cell Rep. 2014 Jul 6;7(1):179–86. doi:10.1016/j.celrep.2014.02.041. PMID 24726356.
Lochner M, Peduto L, Cherrier M, et al. (2008). “In vivo equilibrium of proinflammatory IL-17+ and regulatory IL-10+ Foxp3+ RORgamma t+ T cells”. J Exp Med. 205 (6): 1381–93. doi:10.1084/jem.20080034. PMC 2413023. PMID 18474626.
Masopust D, Ha SJ, Vezys V et al. (2006). “Selective antigen detection in the CNS.”. Nat Methods. 3 (10): 761–9. doi:10.1038/nmeth818. PMID 16990806.
Masopust D, Ha SJ, Vezys V et al. (2009). “Selective antigen detection in the CNS.”. Nat Methods. 6 (4): 287–9. doi:10.1038/nmeth.f.205. PMID 19404245.
Sakaguchi S et al. (2006). “Immunologic tolerance maintained by Foxp3+ regulatory T cells: its breakdown under autoimmune and nonautoimmune conditions”. Immunol Rev. 212: 8–27. doi:10.1111/j.0105-2896.2006.00427.x. PMID 16903903.