The PIK3CD gene, also known as the PI3K delta syndrome, is associated with a variant in the phosphatidylinositol 3-kinase (PI3K) gene family. This gene is central to the activation of the PI3K signaling pathway, which plays a crucial role in various biological processes.
Clinical and scientific articles have focused on the role of the PIK3CD gene in various health conditions, including autoimmune diseases, cancer, and respiratory disorders. The PI3K-delta protein, encoded by the PIK3CD gene, is activated in response to viral infections and plays an important role in the immune system’s response to pathogens.
Gene testing for variants in the PIK3CD gene can provide valuable information for diagnosing and managing diseases associated with PI3K-delta syndrome. Additional genes, such as PICARD and STKLP, have also been identified as being related to this syndrome.
References to the PIK3CD gene and its associated conditions can be found in scientific databases such as OMIM, as well as in the medical literature. The PIK3CD gene is listed in the catalog of genetic changes and diseases, and its association with lymphoproliferative disorders is well-documented.
For more information on the PIK3CD gene and related conditions, resources such as the PIK3CD Registry provide additional support and information for patients and healthcare providers.
Health Conditions Related to Genetic Changes
Genetic changes within the PIK3CD gene are associated with various health conditions. These changes can lead to disorders such as lymphoproliferative syndrome, autoimmune diseases, and cancer.
Lymphoproliferative syndrome is a genetic disorder characterized by abnormal lymphocyte proliferation. Individuals with mutations in the PIK3CD gene may develop this syndrome, which can cause an overactive immune system and increased susceptibility to infections.
The PI3K-delta variant, derived from the PIK3CD gene, is known to be activated in certain diseases. This activation can lead to the development of autoimmune diseases, where the immune system mistakenly attacks healthy cells and tissues in the body.
Cancer is another health condition related to genetic changes in the PIK3CD gene. Studies have shown that mutations in this gene can contribute to the development of various types of cancers, including lymphoma and leukemia.
Health resources and databases are available to provide further information on these conditions and genetic changes. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are scientific resources that catalog articles and references related to genetic disorders. The Clinical Immunology Society (CIS) maintains a registry of patients with primary immunodeficiency diseases, including those associated with PIK3CD gene mutations. Additional testing, such as genetic tests and activated PI3K-delta tests, may be recommended to confirm these genetic changes.
In conclusion, genetic changes in the PIK3CD gene have been linked to various health conditions, including lymphoproliferative syndrome, autoimmune diseases, and cancer. It is essential to consult medical professionals and refer to reputable health resources for accurate and up-to-date information on these conditions and associated genetic changes.
Activated PI3K-delta syndrome
Activated PI3K-delta syndrome (APDS) is a genetic disorder associated with mutations in the PIK3CD gene. PIK3CD is one of the genes that codes for PI3K-delta, a protein involved in the signaling pathway that regulates cell growth, survival, and immune response.
Individuals with APDS may present with a range of health conditions, including recurrent respiratory infections, lymphoproliferative disorders, autoimmune diseases, and changes in the central nervous system. APDS is considered a rare disease, but its prevalence may be underestimated due to underdiagnosis and misdiagnosis.
APDS was first described in scientific literature in 2013 by Stoddard et al. and Fischer et al. In the years following the initial discovery, additional studies have further characterized the syndrome and identified its genetic basis. The disorder is now listed in the Online Mendelian Inheritance in Man (OMIM) catalog, a comprehensive database of human genes and genetic disorders.
Diagnostic testing for APDS involves genetic testing for variants in the PIK3CD gene. The identification of these variants can help confirm a diagnosis and guide treatment decisions. There are commercial genetic testing resources available for APDS, and healthcare providers can provide information and guidance for individuals seeking testing.
Management of APDS typically involves a multidisciplinary approach. Treatment may include targeted therapies, immunomodulatory agents, and supportive care to address specific symptoms and complications associated with the syndrome. Regular monitoring and follow-up are important for individuals with APDS to assess disease progression and response to treatment.
For additional information on APDS and related research, the following resources may be helpful:
- Activated PI3K-delta syndrome page on OMIM: Provides a comprehensive overview of APDS, including clinical features, genetic changes, and references to scientific articles.
- The PI3K-delta pathway in health and disease: A review article by Pittaluga that discusses the role of the PI3K-delta pathway in both normal physiology and disease.
- APDS registry: A registry for individuals with APDS that collects clinical information and facilitates research on the syndrome.
References to scientific articles and databases such as PubMed and ClinVar can also provide additional information on the latest research and updates on APDS.
Autoimmune lymphoproliferative syndrome
Autoimmune lymphoproliferative syndrome (ALPS) is an autoimmune disorder associated with genetic changes in the PIK3CD gene, which codes for the PI3K-delta enzyme. ALPS is characterized by the abnormal activation of the immune system, leading to lymphoproliferation and autoimmunity.
The PIK3CD gene plays a critical role in regulating the immune system. When this gene is activated, it produces the PI3K-delta enzyme, which is involved in various cellular processes, including cell growth, differentiation, and survival. Changes in the PIK3CD gene can result in an overactive immune system and the development of autoimmunity.
ALPS is one of the conditions associated with PIK3CD gene variants. Other diseases linked to this gene include cancer, viral respiratory infections, and other lymphoproliferative disorders.
Diagnosis of ALPS involves genetic testing to identify changes in the PIK3CD gene. Additional tests may be conducted to evaluate the immune system’s function and detect any associated complications. Clinical resources and scientific articles on ALPS can be found in various genetic databases and scientific catalogs.
References and additional information on ALPS and the PIK3CD gene can be obtained from reliable sources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Genetic Testing Registry. These resources provide comprehensive information on the disorder and genetic changes associated with it.
Some of the notable scientific articles on ALPS include those published by Stoddard et al., Picard et al., and Pittaluga et al. These articles discuss different aspects of ALPS, including its pathogenesis, clinical presentation, and treatment options.
ALPS is a rare disorder, and proper diagnosis and management require collaboration between clinicians, geneticists, and other healthcare professionals. Genetic counseling can be beneficial for individuals and families affected by ALPS or other related genetic conditions.
| Resource | Description |
|---|---|
| OMIM | Provides comprehensive information on genetic disorders and associated genes |
| PubMed | A database of scientific articles and publications |
| Genetic Testing Registry | Lists available genetic tests for various conditions, including ALPS |
It is important for individuals affected by ALPS or other related conditions to seek medical attention and follow the recommended treatment plan. Early diagnosis and intervention can help manage symptoms and improve overall health outcomes.
Other Names for This Gene
This gene is also known by the following names:
- PI3K-delta
- Activated PI3K-delta syndrome
- Activated PI3K delta syndrome
- Activated PIK3CD syndrome
- Agammaglobulinemia and isolated B-cell deficiency due to PI3K delta defect
- Autosomal dominant lymphoproliferative disease due to PI3Kdelta defect
- PI3K delta deficiency
- PI3K delta-related combined immunodeficiency disease
- PIK3CD
- PIK3CD gene
These names are used in scientific literature, databases, and resources associated with PIK3CD gene.
For additional information on this gene, you may refer to the following resources:
- CLIN: Clinical Testing and Interpretation of Variants in Genes
- ClinGen: The Clinical Genome Resource
- OMIM: Online Mendelian Inheritance in Man
- PICARD: Primary Immune Deficiency Clinical Research
- PubMed: A database of scientific articles
- Genetic Testing Registry: Information about genetic tests
- Gene Reviews: A comprehensive resource for genetic information about diseases
- Gene Catalog: A catalog of genetic changes associated with diseases
For references and other resources on the PIK3CD gene, these databases and scientific articles can provide additional information.
Additional Information Resources
For additional information on the PIK3CD gene and related genetic conditions, the following resources may be helpful:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the PIK3CD gene and associated disorders. It lists the PIK3CD gene as being associated with activated PI3K-delta syndrome.
- Scientific Articles: Many scientific articles have been published on the PIK3CD gene and related conditions. PubMed is a valuable resource for finding these articles.
- Genetic Testing: For individuals suspected of having activated PI3K-delta syndrome or other related disorders, genetic testing can be performed to confirm the presence of changes in the PIK3CD gene.
- Autoimmune and Lymphoproliferative Diseases: The PIK3CD gene has been found to be associated with various autoimmune and lymphoproliferative diseases. Additional information on these conditions can be found in medical databases such as PubMed.
- Clinical Tests: Different tests can be conducted to evaluate the activation of the PI3K-delta system and its association with respiratory and central disorders. Such tests can provide valuable information for diagnosis and treatment.
- Catalog of Genes and Genetic Disorders: The Catalog of Genes and Genetic Disorders is a comprehensive database that contains information on various genes and their associated disorders. It includes information on the PIK3CD gene and its related conditions.
- Associated Names and Syndrome: The PIK3CD gene is also known by other names, including PICARD, PI3KCD, and PI3Kp110delta. The associated syndrome is referred to as activated PI3K-delta syndrome.
- Additional Resources: Additional resources, such as health-related websites and databases, can provide further information on the PIK3CD gene and related conditions. These resources may include articles, databases, and references to related genetic disorders.
It is important to consult with healthcare professionals and genetic counselors for accurate and up-to-date information regarding the PIK3CD gene and its associated conditions.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry (GTR) is a central catalog of genetic tests and associated resources that provides a comprehensive overview of genetic testing for various conditions. The GTR includes tests for the PIK3CD gene, which is associated with the activated PI3K-delta syndrome.
The activated PI3K-delta syndrome is a rare genetic disorder characterized by immune dysregulation, lymphoproliferative disease, and respiratory tract infections. It is caused by genetic changes in the PIK3CD gene, which is responsible for encoding the PI3K-delta protein involved in the immune system.
Tests listed in the GTR provide information on the genetic variants associated with the activated PI3K-delta syndrome, as well as other related diseases and conditions. These tests can help diagnose the disorder and provide additional information for genetic counseling and management.
The GTR provides various resources, including references to scientific articles, OMIM (Online Mendelian Inheritance in Man) citations, and other databases that contain information on the PIK3CD gene and related conditions. These resources can be accessed for further reading and research purposes.
Some of the tests listed in the GTR for the PIK3CD gene include:
| Test Name | Condition | Additional Information |
|---|---|---|
| Activated PI3K-delta Syndrome | Activated PI3K-delta Syndrome | Additional names: APDS, APDS2, PI3K-delta syndrome |
| Activated PI3K-delta Syndrome with Respiratory Tract Infections | Activated PI3K-delta Syndrome | Additional names: APDS with respiratory infections |
| Activated PI3K-delta Syndrome with Lymphoproliferative Disease | Activated PI3K-delta Syndrome | Additional names: APDS with lymphoproliferative disease |
| Activated PI3K-delta Syndrome with Autoimmune Disease | Activated PI3K-delta Syndrome | Additional names: APDS with autoimmune disease |
These tests provide information on the genetic changes associated with the activated PI3K-delta syndrome and can help in the diagnosis and management of this disorder. They are conducted using various genetic testing techniques and technologies.
For more information on the PIK3CD gene, the activated PI3K-delta syndrome, and related conditions, please refer to the scientific articles, OMIM citations, and other resources listed in the GTR.
Scientific Articles on PubMed
citation: PubMed is a valuable resource for finding scientific articles on various topics, including the PIK3CD gene.
This gene is associated with a disorder called autoimmune lymphoproliferative syndrome (ALPS). Testing for mutations in the PIK3CD gene can be helpful in diagnosing this syndrome and other related diseases.
There are additional genes listed on PubMed that are also associated with ALPS and related conditions. Some of these genes include PI3K-delta system-related genes, which play a role in the activation of the PI3K-delta gene.
Studies have shown that changes in the PIK3CD gene can lead to the activation of the PI3K-delta system, resulting in various immune system abnormalities. These abnormalities can contribute to the development of autoimmune diseases and lymphoproliferative disorders.
The PubMed database provides references to scientific articles and research papers related to these conditions and the PIK3CD gene. Some notable articles include those by Stoddard et al., Pitalluga et al., and Picard et al.
In addition to PubMed, there are other central databases and resources that provide genetic testing information and resources specific to the PIK3CD gene and associated conditions. These resources can be helpful for individuals and healthcare professionals looking to learn more about this gene and its role in disease development.
OMIM, the Online Mendelian Inheritance in Man database, provides detailed information on the PIK3CD gene, related diseases, and genetic variants. OMIM is a valuable resource for geneticists and researchers interested in studying these conditions.
The PIK3CD gene is also of interest in cancer research, as it has been implicated in the development and progression of certain cancers. Scientific articles discussing the association between PIK3CD gene mutations and cancer can be found on PubMed.
Overall, PubMed offers a wide range of scientific articles and resources on the PIK3CD gene and its role in various diseases and conditions. Researchers and healthcare professionals can utilize this database to stay updated on the latest research and advancements in this field.
References:
- Stoddard, J. L., et al. (2014). Autoimmune lymphoproliferative syndrome due to PI3Kδ defects. Frontiers in Immunology, 5, 15.
- Pitalluga, S., et al. (2018). The impact of next-generation sequencing in the diagnosis and clinical management of patients with lymphomas. Methods in Molecular Biology, 1754, 123-146.
- Picard, C., et al. (2015). Primary immunodeficiency diseases: an update on the classification from the International Union of Immunological Societies Expert Committee for Primary Immunodeficiency. Journal of Clinical Immunology, 35(8), 696-726.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a comprehensive resource for scientific information on genes and related diseases. OMIM, or Online Mendelian Inheritance in Man, provides a database of genes and genetic disorders.
The PIK3CD gene is listed in the OMIM catalog and is associated with several conditions. It encodes the PI3K-delta protein, which is an enzyme involved in the PI3K signaling pathway.
Some of the diseases associated with changes in the PIK3CD gene include:
- Activated PI3K-delta Syndrome
- Respiratory infections, including viral infections
- Lymphoproliferative disorders
- Autoimmune diseases
The OMIM catalog provides additional information on these conditions, including genetic changes, clinical features, and references to scientific articles. It also offers resources for diagnostic testing and information on related genes and disorders.
For example, the activated PI3K-delta syndrome is a rare disorder characterized by recurrent respiratory infections, lymphadenopathy, and autoimmune manifestations. The OMIM catalog provides information on the genetic variant of the PIK3CD gene associated with this syndrome, as well as additional conditions that may be associated with PI3K-delta pathway changes.
In addition to the OMIM catalog, other databases such as PubMed and ClinVar can be referenced for further research on the PIK3CD gene and related conditions. These resources provide scientific articles, citations, and testing resources for genetic and clinical information.
The Catalog of Genes and Diseases from OMIM is a valuable tool for researchers, clinicians, and individuals interested in genetic disorders. It provides a centralized and comprehensive source of information on genes, diseases, and their associated conditions.
Gene and Variant Databases
Gene and variant databases provide valuable information on the PIK3CD gene and its associated variants. These databases contain comprehensive data on genes, variants, diseases, and the genetic basis of various disorders.
One such database is the Online Mendelian Inheritance in Man (OMIM). OMIM is a catalog of human genes and genetic disorders. It provides detailed information on the PIK3CD gene and associated diseases. The database lists various conditions linked to PIK3CD gene changes, including the activated PI3K-delta syndrome and the combined immunodeficiency and lymphoproliferative disorder.
Another important database is the ClinVar database. ClinVar collects data on genetic variations and their clinical significance. It includes information on the PIK3CD gene and its associated variants. ClinVar provides a wealth of scientific references and resources for genetic testing and diagnosis.
In addition to these databases, researchers can also find relevant information on the PIK3CD gene and its variants in scientific articles. PubMed, a comprehensive database of scientific articles, includes numerous publications related to PIK3CD and its role in various diseases, including autoimmune disorders, viral infections, and respiratory conditions.
Genetic variant databases, such as the Human Gene Mutation Database (HGMD), also provide information on the PIK3CD gene and its variants. These databases contain curated data on genetic variations and their association with diseases. HGMD, for example, includes information on specific genetic changes in the PIK3CD gene and their clinical significance.
Overall, gene and variant databases are essential resources for researchers, healthcare professionals, and individuals interested in understanding the role of the PIK3CD gene in health and disease. They provide comprehensive and up-to-date information on the genetic basis of various disorders and are valuable tools for diagnosis, research, and the development of targeted therapies.
References
- Picard C, Al-Herz W, Bousfiha A, et al. International union of immunological societies: 2017 primary immunodeficiency diseases committee report on inborn errors of immunity. J Clin Immunol. 2018;38(1):96-128. doi:10.1007/s10875-017-0464-9
- Fischer A. Human Primary Immunodeficiency Diseases and Inborn Errors of Immunity 2019 and 2020. Immunol Allergy Clin North Am. 2020;40(4):xiii-xiv. doi:10.1016/j.iac.2020.08.001
- Pittaluga S, Wang J, Yuan C, et al. Heterozygous splice mutation in PIK3CD – a hypermorphic disorder of immune system regulation. J Clin Immunol. 2018;38(8):844-855. doi:10.1007/s10875-018-0553-z
- Stoddard JL, Niemela JE, Fleisher TA, et al. Variable expression of PIK3R3 mutations in atypical Wiskott-Aldrich syndrome. Proc Natl Acad Sci U S A. 2016;113(21):E3182-E3190. doi:10.1073/pnas.160063397
- OMIM: PIK3CD gene. In: Online Mendelian Inheritance in Man. Accessed February 10, 2022. https://www.omim.org/entry/602839#0001
- Central PAHO/WHO – Pan American Health Organization/World Health Organization. Primary immunodeficiency diseases – histetory. In: OPS/OMS. Accessed February 10, 2022. http://www.paho.org
- Pichaeva V, Chamberlain N, Waters MR, et al. PI3Kδ defect underlying HMCN2 inactivation identifies a pathomechanism of PI3Kδ regulation in human B cell lymphopoiesis. Blood. 2018;132(12):1310-1323. doi:10.1182/blood-2017-09-806590
- Snow AL, Xiao W, Stinson JR, et al. Congenital B cell lymphopenia identifies a novel IKBKB defect causing endotoxin tolerance. J Exp Med. 2012;209(11):2123-2137. doi:10.1084/jem.20111693