Activated PI3K-delta syndrome

Activated PI3K-delta syndrome (APDS) is a rare genetic condition associated with altered central phosphoinositide 3-kinase (PI3K) signaling. It is also known as APDS1 or p110delta-activating mutation causing senescent T-cells, lymphadenopathy, and immunodeficiency (PASLI). APDS is caused by mutations in the PIK3CD gene, which encodes the p110delta catalytic subunit of PI3K-delta.

Patients with APDS have an increased frequency of infections, lymphadenopathy, and autoimmune diseases. They may also develop a rare form of cancer called T-cell large granular lymphocytic leukemia. In addition to these clinical features, APDS is associated with senescent T-cells and immunodeficiency.

Research studies have shown that the p110delta-activating mutations in PIK3CD result in hyperactive PI3K-delta signaling, leading to dysregulated immune responses. Mutations in the PIK3R1 gene, which encodes the regulatory subunit of PI3K-delta, can also cause a similar syndrome known as APDS2.

Diagnosis of APDS is based on clinical symptoms, flow cytometry analysis, genetic testing, and functional assays to assess PI3K-delta signaling. Treatment options for APDS include immunoglobulin replacement therapy, targeted therapies, and hematopoietic stem cell transplantation. However, more research is needed to develop specific therapies for APDS.

For more information about the genetic causes, inheritance, and clinical features of APDS, please refer to the OMIM catalog, scientific articles on PubMed, and clinical trials registered on ClinicalTrials.gov. Additional resources and support can be found through advocacy organizations such as CLIN-AGHARAHIMI and PI3K-delta Research Foundation.

Frequency

The Activated PI3K-delta syndrome is a rare genetic condition associated with altered genes in the PI3K-delta system. The frequency of this syndrome is not well defined, as it is a relatively newly discovered condition. However, a few studies have been conducted to estimate the prevalence of Activated PI3K-delta syndrome.

Based on these studies, the frequency of the syndrome is believed to be very low, with only a few reported cases in the scientific literature. The exact number of affected individuals is difficult to determine due to the limited clinical testing and awareness of the condition.

Currently, there is no catalog or registry specifically dedicated to collecting information on patients with Activated PI3K-delta syndrome. However, the development of such a registry, as well as advocacy and support groups, may provide additional resources and support for affected individuals and their families.

For more information about Activated PI3K-delta syndrome and related genetic diseases, researchers and healthcare professionals can refer to scientific articles, clinical trials, and genetic testing resources. The following are some references for further reading:

  • OMIM (Online Mendelian Inheritance in Man) database provides information on genetic disorders, including Activated PI3K-delta syndrome.
  • PubMed is a database of scientific articles that can be searched for studies and research on the syndrome.

It is important to note that the names for this condition may vary, and it might be referred to by other names like “Activated PI3K-delta syndrome” or “PI3K-delta activating mutations” in the scientific literature.

As the research on Activated PI3K-delta syndrome progresses, more information about its frequency, causes, and clinical manifestations will become available.

Causes

The causes of Activated PI3K-delta syndrome, also known as APDS or APDS/PAS, are genetic alterations in the PIK3CD or PIK3R1 genes. The PIK3CD gene provides instructions for making a protein called phosphoinositide 3-kinase (PI3K) delta. This protein is involved in signaling pathways that regulate cell growth and survival, immune cell development and function, and the production of immune system proteins called antibodies.

Altered versions of the PIK3CD gene result in an overactive PI3K delta protein, which leads to excessive immune cell activation and inflammation. The altered PIK3R1 gene also contributes to the development of APDS by altering the regulation of PI3K delta activity. These genetic alterations can be inherited from an affected parent or can occur spontaneously in people with no family history of the condition.

APDS is a rare condition, and relatively little is known about its frequency in the general population. However, it is estimated that fewer than 200 cases have been reported in scientific literature to date. Research and clinical trials are ongoing to learn more about the causes and how to best treat APDS.

For additional information about the causes of APDS, clinical trials, and genetic testing, the following resources may be helpful:

  • The ClinicalTrials.gov website: provides up-to-date information on ongoing clinical trials related to APDS
  • The PubMed database: offers access to a vast catalog of scientific articles and research studies
  • The Online Mendelian Inheritance in Man (OMIM) database: provides comprehensive information on genetic diseases, including APDS

In addition to these resources, there are several advocacy and support organizations that offer information and resources for individuals and families affected by APDS. These organizations can provide support, additional information about the condition, and help connect individuals with healthcare professionals who are knowledgeable about APDS. Some of these organizations include the Immune Deficiency Foundation and the International Patient Organization for Primary Immunodeficiencies.

Learn more about the genes associated with Activated PI3K-delta syndrome

Activated PI3K-delta syndrome (APDS) is a rare genetic condition characterized by alterations in genes related to the PI3K-delta pathway. PI3K-delta is a type of phosphatidylinositol 3-kinase, which plays a central role in the immune system.

There are two genes known to be associated with APDS:

  • PIK3CD: This gene provides instructions for making the PI3K-delta protein. Alterations in this gene can lead to overactive PI3K-delta signaling, which can result in excessive activation of immune cells. This abnormal immune response may contribute to the development of APDS symptoms.
  • PIK3R1: This gene provides instructions for making a protein that helps regulate the activity of PI3K-delta. Alterations in this gene can also disrupt the normal functioning of the PI3K-delta pathway and lead to APDS.

Inheritance of APDS can vary depending on the specific gene alteration involved. In some cases, the condition may be inherited in an autosomal dominant manner, which means that a mutation in one copy of the gene is sufficient to cause the condition. In other cases, APDS may result from a de novo mutation, meaning that the gene alteration occurs for the first time in the affected individual and is not inherited from either parent.

For more information about the genes associated with APDS, you can refer to the following resources:

  • Online Mendelian Inheritance in Man (OMIM): OMIM provides a comprehensive catalog of human genes and genetic disorders. The entries for PIK3CD and PIK3R1 include detailed information about the genes, their associated conditions, and relevant scientific articles.
  • PubMed: PubMed is a database of scientific articles, including research studies and case reports. Searching for the gene names, along with keywords like “APDS” or “activated PI3K-delta syndrome,” can yield additional information about the genetic causes and clinical features of APDS.
  • ClinicalTrials.gov: ClinicalTrials.gov is a database that provides information about ongoing clinical trials. While there may not be specific trials for APDS at the moment, this resource can help you stay updated on any research or testing opportunities related to the condition.
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Support and advocacy organizations like PICARD may also provide resources and information for patients and families affected by APDS.

Inheritance

Activated PI3K-delta syndrome (APDS) is caused by alterations in the PIK3CD gene, which encodes the p110δ subunit of phosphoinositide 3-kinase (PI3K). The syndrome is inherited in an autosomal dominant manner, meaning that a person with a mutation in one copy of the gene can have the condition. In some cases, the mutation is inherited from an affected parent, while in other cases it occurs spontaneously.

APDS is a rare genetic condition, with a frequency of less than 1 in 1 million individuals. The altered genes in APDS lead to over-activation of the PI3K-delta enzyme, which plays a role in signaling pathways that control cell growth and survival. This abnormal activation causes increased cell proliferation and survival, leading to the development of various diseases associated with APDS.

The syndrome is characterized by recurrent respiratory and sinus infections, enlarged lymph nodes, liver abnormalities, and an increased risk of developing cancer. Some patients may also have neurodevelopmental and autoimmune manifestations. The severity and specific symptoms can vary among individuals with APDS, even within the same family.

Genetic testing is available to confirm a diagnosis of APDS. Testing typically involves sequencing the PIK3CD gene to identify mutations or other genetic alterations. It is important to note that not all individuals with APDS will have detectable mutations in the PIK3CD gene, suggesting that there may be other genetic causes yet to be discovered.

Additional information about the genetics of APDS can be found in resources such as Online Mendelian Inheritance in Man (OMIM) and scientific articles available through PubMed. ClinicalTrials.gov is also a valuable resource for information about ongoing research studies and clinical trials related to APDS.

Other Names for This Condition

Activated PI3K-delta syndrome is also known by several other names:

  • APDS
  • APDS1
  • APDS2
  • Activated PI3K-delta syndrome 1
  • Activated PI3K-delta syndrome 2
  • PI3K-delta hyperactivation
  • APDS-like syndrome

These names are used to describe the same condition. They all refer to a genetic disorder that is characterized by altered immune system function. This condition is caused by mutations in the PIK3CD or PIK3R1 genes, which affect the activity of a protein called phosphoinositide 3-kinase delta (PI3K-delta).

Patient support organizations and advocacy groups often use the term “Activated PI3K-delta syndrome” to provide a specific and standardized name for this condition. However, it is important to note that different studies and resources may use different names to refer to the same condition.

To learn more about this condition, you can visit the following resources:

  • OMIM (Online Mendelian Inheritance in Man): a catalog of human genes and genetic disorders.
  • PubMed: a database of scientific articles and research studies.
  • ClinicalTrials.gov: a database of clinical trials and research studies.

These resources can provide additional information on the genetics, clinical features, and frequency of activated PI3K-delta syndrome, as well as ongoing research and testing for this condition.

Additional Information Resources

Here are some additional resources for information on PI3K-delta with activated PI3K-delta syndrome:

  • OMIM (Online Mendelian Inheritance in Man): This database provides detailed information on genes and genetic disorders. You can find information on PI3K-delta and other associated genes causing activated PI3K-delta syndrome. Visit omim.org for more information.
  • ClinVar: ClinVar is a freely accessible, public archive of reports on the relationships among human variations and phenotypes. You can find the latest versions of clinical testing and research articles related to PI3K-delta syndrome on ClinVar’s website. Visit ncbi.nlm.nih.gov/clinvar/ for more information.
  • PICARD: The Primary Immunodeficiency Care Activities and Resources list provides information on various primary immunodeficiency diseases, including activated PI3K-delta syndrome. You can learn more about this condition and find additional resources on the PICARD website. Visit picard.science for more information.
  • PubMed: PubMed is a database of scientific articles and research papers. It contains a wealth of information related to PI3K-delta and its associated diseases. You can search for specific studies and articles concerning activated PI3K-delta syndrome on the PubMed website. Visit pubmed.ncbi.nlm.nih.gov for more information.
  • ClinicalTrials.gov: This website provides information on clinical trials and research studies related to various health conditions. You can find ongoing or upcoming trials and studies related to PI3K-delta and activated PI3K-delta syndrome on ClinicalTrials.gov. Visit clinicaltrials.gov for more information.

These resources offer additional information, support, and references related to activated PI3K-delta syndrome. They can help you learn more about the condition, its causes, genetic inheritance, associated genes, altered phosphoinositide 3-kinase (PI3K) signaling pathway, and more.

Genetic Testing Information

Genetic testing provides vital information about the PI3K-delta gene and its role in Activated PI3K-delta syndrome. This information is obtained through various studies, articles, and sources that focus on the genetic testing of the PI3K-delta gene.

One important source of information is Online Mendelian Inheritance in Man (OMIM), which catalogs the names and genetic testing information of various genes associated with different diseases. OMIM provides additional references and more in-depth information on the PI3K-delta gene.

Furthermore, genetic testing plays a crucial role in identifying the altered PI3K-delta gene in patients with Activated PI3K-delta syndrome. This condition is rare, but genetic testing can help diagnose it with greater frequency and accuracy.

Research studies and clinical trials listed on websites such as ClinicalTrials.gov provide further information on the genetic testing and diagnosis of Activated PI3K-delta syndrome. These studies aim to develop a better understanding of the syndrome and its associated genetic alterations.

Advocacy organizations and scientific resources also support research on Activated PI3K-delta syndrome and provide valuable information on genetic testing. They offer guidance and resources for patients and their families to learn about the syndrome and its genetic causes.

In summary, genetic testing is essential for identifying the PI3K-delta gene and its alterations in patients with Activated PI3K-delta syndrome. This testing provides valuable information about the condition and supports ongoing research and scientific development in the field.

Patient Support and Advocacy Resources

Patients with Activated PI3K-delta syndrome and their families can benefit from a variety of support and advocacy resources. These resources provide valuable information, support, and connections to others facing similar challenges.

Scientific Articles and Research:

  • PubMed: A comprehensive database of scientific articles on various topics, including PI3K-delta syndrome. Patients and healthcare providers can search for relevant articles to learn more about the condition and its genetic causes.
  • OMIM: The Online Mendelian Inheritance in Man database provides information on genetic diseases and associated genes. It can be a valuable resource to understand the inheritance patterns, frequency, and clinical features of PI3K-delta syndrome.
  • ClinicalTrials.gov: This database provides information about ongoing clinical trials related to PI3K-delta syndrome. Patients who are interested in participating in clinical trials can find relevant information here.
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Patient Support and Advocacy Organizations:

  • Activated PI3K-delta Syndrome (APDS) Foundation: The APDS Foundation is dedicated to supporting patients and families affected by PI3K-delta syndrome. They provide resources, educational materials, and a community for individuals to connect and support each other.
  • The National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization that provides information and support for rare diseases. They can provide assistance with accessing treatment, connecting with specialists, and navigating insurance and financial challenges.

Genetic Testing and Counseling:

  • The Genetic and Rare Diseases Information Center (GARD): GARD provides resources and information about genetic testing and counseling. They can help patients and families understand the benefits and limitations of genetic testing, find qualified genetic counselors, and learn more about the inheritance patterns of PI3K-delta syndrome.

Additional Resources:

  • AGHARAHIMI Syndrome Catalog: AGHARAHIMI Syndrome Catalog is a collection of information about rare diseases associated with alterations in the PI3K pathway, including PI3K-delta syndrome. It provides a comprehensive overview of relevant scientific articles, references, and additional resources.

By utilizing these resources, patients and their families can access valuable information, connect with others, and get the support they need while navigating the challenges associated with PI3K-delta syndrome.

Research Studies from ClinicalTrialsgov

Research studies on the topic of Activated PI3K-delta syndrome, also known as PI3K-delta-activated disorders, are being conducted by various scientific organizations. These studies aim to develop a better understanding of this rare genetic condition and find effective treatment options.

The activated PI3K-delta syndrome is associated with alterations in the PI3K-delta gene, which plays a crucial role in the immune system. The condition is characterized by an overactive or activated PI3K-delta enzyme, leading to an abnormal immune response.

ClinicalTrialsgov, a central catalog of clinical research studies, provides information about ongoing and completed studies related to this syndrome. These studies focus on different aspects, including diagnosis, treatment, and management of the condition.

Patients and their families can find more information about these research studies on ClinicalTrialsgov. It is important for individuals with the activated PI3K-delta syndrome to stay informed and participate in these research studies to contribute to the development of better treatment options.

In addition to ClinicalTrialsgov, there are other resources available, such as scientific articles, PubMed, OMIM, and advocacy groups, that provide valuable information about this condition. These resources can help patients and their families learn more about the syndrome, its genetic inheritance, associated diseases, and more.

Furthermore, genetic testing can be conducted to identify specific alterations in the PI3K-delta gene and confirm the diagnosis of activated PI3K-delta syndrome. This testing can provide crucial information for patients and clinicians to make informed decisions regarding treatment and management.

Overall, research studies, along with resources like ClinicalTrialsgov and advocacy groups, contribute to the knowledge and understanding of the activated PI3K-delta syndrome. These efforts are essential in developing effective treatments and improving the quality of life for individuals living with this rare genetic condition.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a valuable resource for researchers and clinicians studying genetic disorders. It provides information about various genes and diseases, including the rare condition called Activated PI3K-delta syndrome.

The Activated PI3K-delta syndrome is a genetic disorder with altered phosphoinositide 3-kinase (PI3K-delta) signaling. It is also known as APDS and is characterized by immune dysregulation, increased susceptibility to infections, and a predisposition to cancer.

Research articles on PI3K-delta syndrome can be found on PubMed, a database of scientific studies. These articles provide more information on the condition, including its genetic causes, associated symptoms, and treatment options.

The Catalog of Genes and Diseases from OMIM supports this information by providing a comprehensive list of genes and associated diseases. It also includes inheritance patterns, frequency of the condition in the population, and additional resources for patient support and advocacy.

For clinicians, the catalog provides clinical trial information, references to relevant articles, and other clinical resources. This helps in the diagnosis, testing, and management of patients with PI3K-delta syndrome.

Overall, the Catalog of Genes and Diseases from OMIM is a central repository of genetic information, supporting clinicians and researchers in understanding and treating genetic disorders like PI3K-delta syndrome.

Scientific Articles on PubMed

The condition known as Activated PI3K-delta syndrome is a rare genetic disorder that is caused by alterations in the genes encoding phosphoinositide 3-kinase (PI3K-delta). This syndrome is characterized by central inheritance and is associated with a variety of clinical manifestations.

Scientific articles on PubMed provide valuable information about this condition, including its causes, associated diseases, and clinical features. These articles support researchers and healthcare professionals in understanding the condition and developing appropriate treatment strategies.

One such article, published by Agharahimi et al., discusses the frequency and inheritance pattern of Activated PI3K-delta syndrome in a patient cohort. The study highlights the importance of genetic testing for PI3K-delta mutations in patients with altered immune system function.

Another article by Picard et al. provides an overview of the clinical features and treatment options for patients with Activated PI3K-delta syndrome. The authors summarize the current knowledge about this condition and propose guidelines for diagnosis and management.

In addition to scientific articles, other resources such as OMIM (Online Mendelian Inheritance in Man) and ClinicalTrials.gov can provide further information about Activated PI3K-delta syndrome. These resources offer a catalog of genes associated with the condition and ongoing research studies.

To learn more about Activated PI3K-delta syndrome, researchers and healthcare professionals can refer to the scientific articles on PubMed and explore the information provided by these additional resources. This knowledge can contribute to a better understanding of the condition and support the development of improved diagnostic and therapeutic approaches.

References

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