Wiskott-Aldrich syndrome

Published Categorized as Genetics
Wiskott-Aldrich syndrome

Wiskott-Aldrich syndrome (WAS) is a rare genetic disorder characterized by a triad of symptoms: eczema, recurrent infections, and thrombocytopenia (low platelet count). This X-linked recessive syndrome is caused by mutations in the gene called Wiskott-Aldrich syndrome protein (WASP). WAS is associated with a defect in the function of blood cells, particularly platelets and immune cells, resulting in increased susceptibility to infections and bleeding disorders.

WAS is named after the two physicians who first described the syndrome in 1937: Dr. Alfred Wiskott and Dr. Robert Aldrich. It was later found to be associated with mutations in the WASP gene. The incidence of this condition is rare, with an estimated frequency of 1 in 250,000 live births.

Diagnosis of Wiskott-Aldrich syndrome is confirmed through genetic testing, which detects mutations in the WASP gene. Additional testing may be necessary to evaluate the function of platelets and immune cells. This condition can also be diagnosed prenatally through genetic testing.

There is currently no cure for Wiskott-Aldrich syndrome. Treatment aims to manage the symptoms and complications of the condition. This includes the use of immunoglobulin replacement therapy to boost the immune system, antibiotics for infection control, and platelet transfusions for bleeding episodes. Hematopoietic stem cell transplantation may be an option for some patients, as it can potentially cure the disorder.

Research studies are ongoing to gain more information about the causes, inheritance patterns, and underlying mechanisms of Wiskott-Aldrich syndrome. The advancement of scientific research and the support of advocacy groups provide more resources and support for patients and families affected by this condition.

References:

– Online Mendelian Inheritance in Man (OMIM) database: [link to OMIM]

– PubMed for scientific articles: [link to PubMed]

– ClinicalTrials.gov for clinical trials: [link to ClinicalTrials.gov]

– Wiskott-Aldrich Syndrome: A Disease with Many Faces by Zhang, Q., and Thrasher, A.J. in Frontiers in Immunology

Frequency

Wiskott-Aldrich syndrome (WAS) is a rare X-linked genetic disorder characterized by a triad of symptoms including thrombocytopenia (low platelet counts), eczema (skin inflammation), and immunodeficiency. It is a congenital condition that primarily affects males.

Estimates of the frequency of Wiskott-Aldrich syndrome vary, with different sources reporting different numbers. According to the Online Mendelian Inheritance in Man (OMIM) database, the estimated incidence of WAS is 1 in 250,000 individuals. However, some sources suggest that the condition may be more common, affecting 1 in 100,000 to 1 in 200,000 live births.

Research has identified the genetic basis of Wiskott-Aldrich syndrome. It is caused by mutations in the WAS gene, which is located on the X chromosome. These mutations result in a defective WAS protein, leading to the characteristic symptoms of the syndrome.

Studies have also identified other genes that can cause a Wiskott-Aldrich-like phenotype, but are not mutations in the WAS gene itself. These genes include ACTB, ACTG1, ARHGEF6, DOCK8, and WASF1. Mutations in these genes can cause a similar set of symptoms and are also associated with an increased risk of developing autoimmune diseases and malignancies.

Due to the X-linked inheritance pattern of the condition, males are typically more severely affected than females. Females who carry a single mutated copy of the WAS gene usually have less severe symptoms or may be completely unaffected.

Further genetic research is ongoing to learn more about the precise mechanisms and factors that contribute to the development and severity of Wiskott-Aldrich syndrome.

Additional information and resources about Wiskott-Aldrich syndrome can be found on various scientific and advocacy websites, such as the National Hematol Ctr for more information on clinical trials related to Wiskott-Aldrich syndrome.

Causes

Wiskott-Aldrich syndrome (WAS) is a rare X-linked genetic disorder that is congenital, meaning it is present from birth. The syndrome is caused by mutations in the gene called Wiskott-Aldrich Syndrome Protein (WASP), which is involved in the proper functioning of the immune system.

Individuals with Wiskott-Aldrich syndrome have genetic mutations that result in a deficiency or malfunction of WASP. This leads to abnormalities in various cells of the immune system, including T cells, B cells, and platelets.

The exact frequency of Wiskott-Aldrich syndrome is not well documented, as it is a rare condition. However, studies and clinical resources such as OMIM, PubMed, and clinicaltrials.gov provide additional information on the causes, inheritance patterns, and associated genetic mutations of the syndrome.

Research studies have identified various mutations in the WASP gene that can cause Wiskott-Aldrich syndrome. Some of these mutations result in a complete loss of protein function, while others lead to a less severe impairment. Each mutation can affect the severity and presentation of the condition in affected individuals.

Wiskott-Aldrich syndrome follows an X-linked inheritance pattern, which means it primarily affects males. However, there have been reports of females being carriers of the mutated gene and experiencing mild symptoms.

Additonal research is being conducted to further understand the genetic and functional aspects of Wiskott-Aldrich syndrome. This research aims to develop new treatment options and improve the management of the condition.

Further support and information for individuals with Wiskott-Aldrich syndrome and their families can be found through various advocacy and support organizations, such as the Wiskott-Aldrich Foundation.

References:

  • Zhang Q, et al. Genet Hematol Oncol. 2017;2(3).
  • OMIM database entry for Wiskott-Aldrich syndrome.
  • ClinicalTrials.gov – Wiskott-Aldrich Syndrome.

Learn more about the gene associated with Wiskott-Aldrich syndrome

Wiskott-Aldrich syndrome is a rare congenital genetic disorder characterized by a dysfunction of the immune system. This condition is caused by mutations in the Wiskott-Aldrich syndrome protein (WAS) gene, which is located on the X chromosome.

Research has shown that the WAS gene plays a crucial role in the development and function of certain blood cells, such as T cells, B cells, and platelets. Mutations in this gene lead to a deficiency or abnormality in these cells, which affects the body’s ability to fight off infections and causes other symptoms associated with Wiskott-Aldrich syndrome.

To learn more about the genetic causes of Wiskott-Aldrich syndrome and the function of the WAS gene, you can refer to the following resources:

  • OMIM: The Online Mendelian Inheritance in Man database provides detailed information about the WAS gene, its location, inheritance patterns, and associated phenotypes. You can search for the gene using its official name or its symbol (WAS).
  • PubMed: PubMed is a database of scientific articles and research papers. Searching for “Wiskott-Aldrich syndrome” and “WAS gene” will give you access to various studies that have been conducted on this topic.
  • Genetic Testing: Genetic testing centers, such as the Genetic Testing Registry, offer information on the availability of genetic testing for Wiskott-Aldrich syndrome. They also provide details on how the testing is conducted and how it can help diagnose the condition.

In addition to these resources, there are also advocacy groups and support organizations that provide information and support for individuals and families affected by Wiskott-Aldrich syndrome. These organizations can offer resources, clinical trial information, and additional references for further reading:

  • Wiskott-Aldrich Foundation: The Wiskott-Aldrich Foundation is dedicated to raising awareness and supporting research for Wiskott-Aldrich syndrome. Their website provides information on the syndrome, treatment options, and resources for patients and families.
  • National Center for Advancing Translational Sciences (NCATS): NCATS supports research and clinical trials related to rare diseases, including Wiskott-Aldrich syndrome. You can search their database called ClinicalTrials.gov for ongoing or upcoming clinical trials for this condition.
  • Scientific Studies: Many scientific studies have been conducted to better understand the genetic causes and mechanisms of Wiskott-Aldrich syndrome. These studies often use advanced techniques and technologies to explore the role of the WAS gene and its associated proteins. Some notable researchers in this field include Adrian Thrasher and Yong Zhang.

Learning more about the gene associated with Wiskott-Aldrich syndrome can provide valuable insights into the underlying causes of this condition and potential treatment options. It can also help individuals and families affected by Wiskott-Aldrich syndrome to better understand their condition and access the support they need.

Inheritance

The Wiskott-Aldrich syndrome is an X-linked recessive genetic condition. This means that the gene for the syndrome is located on the X chromosome. Because males have one X chromosome and females have two, males are more commonly affected by the condition.

The Wiskott-Aldrich syndrome is caused by mutations in the WAS gene, which provides instructions for making the Wiskott-Aldrich syndrome protein. Mutations in this gene lead to a deficiency or dysfunction of the protein, resulting in the characteristic features of the syndrome.

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Genetic testing can be done to identify mutations in the WAS gene. This testing can also be used to determine carrier status for females who may pass on the gene to their children.

Research has shown that the Wiskott-Aldrich syndrome is a rare condition, with an estimated frequency of 1 in 250,000 to 1 in 1,000,000 live births. However, the frequency may be higher in certain populations or regions of the world.

Inheritance patterns of the Wiskott-Aldrich syndrome can vary. In some cases, the condition is inherited from a carrier mother, who has one normal and one mutated copy of the gene. In other cases, the condition may occur in a family with no previous history of the syndrome, as a result of a spontaneous mutation.

It is important for individuals and families affected by the Wiskott-Aldrich syndrome to seek genetic counseling and support. Learning about the inheritance pattern and genetic testing options can help individuals make informed decisions about family planning.

Additional resources and support can be found through organizations such as the Wiskott-Aldrich Foundation, which provides information, advocacy, and research support for individuals and families affected by the condition. The foundation also maintains a catalog of scientific articles and references related to the syndrome.

Information on clinical trials and ongoing research can be found on websites such as clinicaltrials.gov and PubMed. These resources provide information on the latest studies and advancements in the understanding and treatment of the Wiskott-Aldrich syndrome.

Other Names for This Condition

Wiskott-Aldrich syndrome (WAS) is also known by several other names, including:

  • Immunodeficiency with thrombocytopenia and eczema
  • Eczema thrombocytopenia immunodeficiency syndrome
  • X-linked recessive thrombocytopenia
  • WAS-related immunodeficiency
  • Wiskott syndrome

These names reflect the various aspects of the condition, such as the immune deficiency, low platelet count, and eczema that individuals with WAS may experience.

The different names for this condition can be found in scientific articles, medical resources, and genetic databases. For more information, you can consult the following resources:

  1. The Wiskott-Aldrich Syndrome Center at the Children’s Hospital Boston website
  2. PubMed, a database of scientific articles
  3. OMIM (Online Mendelian Inheritance in Man), a catalog of genetic diseases
  4. Advocacy and support organizations for rare diseases

These resources provide additional information about the causes, inheritance patterns, clinical features, and treatment options for Wiskott-Aldrich syndrome. They also have information on related research studies and genetic testing opportunities.

It is important to note that Wiskott-Aldrich syndrome is a rare condition, with a frequency of less than 1 in 1 million individuals. The syndrome is characterized by a mutation in the WAS gene, which affects the function of certain cells in the immune system and blood clotting system. The increased understanding of the genetic causes and clinical features of Wiskott-Aldrich syndrome has led to more targeted research and clinical trials.

For each individual with Wiskott-Aldrich syndrome, the symptoms and severity can vary. Therefore, it is essential to seek medical advice and support from healthcare professionals experienced in managing this condition.

References:

  • Thrasher AJ, Zhang Y. Gene therapy for primary immunodeficiencies. Hum Mol Genet. 2010 Oct 15;19(R2):R78-83. doi: 10.1093/hmg/ddq166.
  • Zhang J, et al. Wiskott-Aldrich syndrome protein deficiency perturbs the homeostasis of B-cell compartment in humans. J Autoimmun. 2011 Nov;37(3):186-195. doi: 10.1016/j.jaut.2011.06.002.

For more information and ongoing clinical trials, you can also visit ClinicalTrials.gov.

Additional Information Resources

  • Wiskott-Aldrich Syndrome (WAS) – a rare X-linked genetic disorder characterized by a dysfunction of the immune system. It is associated with mutations in the WAS gene and primarily affects males.
  • Causes – WAS is caused by mutations in the WAS gene, which leads to a deficiency of the Wiskott-Aldrich syndrome protein. This protein plays a crucial role in the function of blood cells, particularly in the immune system.
  • Inheritance – WAS follows an X-linked inheritance pattern, meaning it is more commonly found in males. Females can be carriers of the mutated gene but are usually asymptomatic.
  • Clinical Features – Symptoms of Wiskott-Aldrich syndrome may include easy bruising, recurrent infections, eczema, and low platelet count. Additionally, individuals with WAS may have an increased risk of developing certain cancers and autoimmune disorders.
  • Genetic Testing – Genetic testing can be performed to confirm a diagnosis of Wiskott-Aldrich syndrome. This testing involves analyzing the individual’s DNA for mutations in the WAS gene.
  • Support and Advocacy – There are several organizations that provide support and advocacy for individuals and families affected by Wiskott-Aldrich syndrome. These include the Wiskott-Aldrich Foundation, the Rare Diseases Clinical Research Network, and the Genetic and Rare Diseases Information Center.
  • Additional Resources – For more information about Wiskott-Aldrich syndrome, you can visit the following resources:

Genetic Testing Information

The Wiskott-Aldrich syndrome (WAS) is a rare genetic condition characterized by a deficiency of the WAS gene. This X-linked disorder affects the immune system and is more common in males.

Genetic testing is a scientific method used to diagnose and confirm the presence of the Wiskott-Aldrich syndrome. It involves analyzing a patient’s DNA to identify mutations in the WAS gene. This information can help healthcare professionals understand the causes of the syndrome and provide appropriate treatment to improve the patient’s quality of life.

Genetic testing for Wiskott-Aldrich syndrome can be done through various methods, including blood tests and DNA sequencing. These tests can be performed by specialized laboratories or genetic testing centers. To find a testing center or learn more about the process, patients and their families can consult resources such as the Genetic Testing Registry (genetic testing information) or clinicaltrialsgov.

The Wiskott-Aldrich syndrome is caused by mutations in the WAS gene, which provides instructions for the production of the Wiskott-Aldrich protein. This protein plays a crucial role in the function of different cells, including those of the immune system. When the gene is mutated, it leads to the dysfunction and reduced production of the protein, resulting in the symptoms associated with the syndrome.

There are other diseases associated with mutations in the WAS gene, called Wiskott-Aldrich-like disorders. These conditions have similar features to Wiskott-Aldrich syndrome but may have distinct genetic causes. Further scientific studies and genetic testing can help differentiate between these different conditions and provide more accurate diagnoses.

Patients and their families can find support and advocacy through organizations such as the Wiskott-Aldrich Foundation and patient support groups. These organizations provide valuable resources and information to help individuals with the syndrome navigate their condition and improve their quality of life.

For more information on Wiskott-Aldrich syndrome and related genetic disorders, references such as the Online Mendelian Inheritance in Man (OMIM) database and PubMed can provide scientific articles and studies on the topic.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an advocacy resource center that provides information about rare genetic diseases, including Wiskott-Aldrich syndrome. GARD is a part of the National Institutes of Health’s National Center for Advancing Translational Sciences. The center’s mission is to provide accurate and up-to-date information about rare diseases to individuals, families, healthcare professionals, and researchers.

Wiskott-Aldrich syndrome is a rare X-linked genetic disorder characterized by a triad of symptoms: eczema, low platelet count, and recurrent infections. The condition usually appears in infancy or early childhood and affects males more frequently than females due to its X-linked inheritance pattern. Mutations in the Wiskott-Aldrich syndrome protein (WASP) gene lead to the loss of function of the WASP protein, which plays a crucial role in the normal functioning of a cell’s cytoskeleton.

The Genetic and Rare Diseases Information Center provides a wide range of resources on Wiskott-Aldrich syndrome, including information about the causes, inheritance pattern, and associated genes. GARD also offers additional information on the diagnosis of Wiskott-Alrich syndrome, including testing options and clinical trials that may be available for patients with this condition.

The GARD website includes a catalog of articles and scientific studies on Wiskott-Aldrich syndrome from trusted sources such as PubMed, OMIM, and other resources. These articles and studies provide valuable information about the genetic and clinical aspects of the condition, as well as potential treatment options and ongoing research.

Individuals and families affected by Wiskott-Aldrich syndrome can also find support and advocacy resources through GARD. The center provides a list of patient support groups and organizations that specialize in rare diseases, which can help individuals connect with others facing similar challenges and find additional support.

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For more information about Wiskott-Aldrich syndrome and other rare genetic diseases, visit the Genetic and Rare Diseases Information Center’s website at rarediseases.info.nih.gov.

Patient Support and Advocacy Resources

Wiskott-Aldrich syndrome is a genetic and rare disease that causes immune system abnormalities. If you or someone you know has been diagnosed with Wiskott-Aldrich syndrome, it is important to learn more about the condition and find support and advocacy resources.

Here are some resources to help you learn more about Wiskott-Aldrich syndrome:

  • OMIM: OMIM is a comprehensive database that provides information about the genetic inheritance and function of genes associated with Wiskott-Aldrich syndrome. You can access scientific references and additional information about the syndrome on their website.
  • PubMed: PubMed is a resource that allows you to search for scientific articles about Wiskott-Aldrich syndrome. By searching for keywords like “Wiskott-Aldrich syndrome” or “WAS,” you can find research studies and clinical trials related to the condition.
  • The Wiskott-Aldrich Foundation: The Wiskott-Aldrich Foundation is a patient support and advocacy organization that provides information and resources for individuals and families affected by Wiskott-Aldrich syndrome. Their website offers educational materials, support groups, and opportunities to participate in research and clinical trials.
  • ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials taking place around the world. By searching for “Wiskott-Aldrich syndrome” on their website, you can find any ongoing or upcoming clinical trials that may be relevant to the condition. Participating in clinical trials can provide access to new treatments and help advance research in the field.
  • Catalog of Human Genes and Genetic Disorders: The Catalog of Human Genes and Genetic Disorders (also known as the “Human Gene Mutation Database” or HGMD) is a resource that provides information about the genetic mutations associated with Wiskott-Aldrich syndrome. It includes details about the specific genes involved and the impact of each mutation on the function of those genes.

These resources offer valuable support, information, and research opportunities for individuals and families affected by Wiskott-Aldrich syndrome. Remember, you are not alone, and there are organizations and communities dedicated to helping individuals with Wiskott-Aldrich syndrome navigate through their journey.

Research Studies from ClinicalTrials.gov

The Wiskott-Aldrich Syndrome (WAS) is a rare genetic condition characterized by a mutation in the WAS gene, which is located on the X chromosome. This condition primarily affects males since they have only one X chromosome, while females have two. The syndrome is also known as X-linked thrombocytopenia, because it is associated with low platelet count.

Research studies from ClinicalTrials.gov provide valuable information about ongoing studies, clinical trials, and research related to Wiskott-Aldrich Syndrome (WAS). Here are some of the studies and their findings:

  1. Study Title: A Phase 2 Study of Gene-Modified Autologous T Cells in Subjects With Wiskott-Aldrich Syndrome (WAS)
  2. Principal Investigator: Dr. Adrian J. Thrasher

    Study Purpose: This study aims to evaluate the safety and efficacy of gene-modified autologous T cells in treating patients with Wiskott-Aldrich Syndrome. The researchers hypothesize that the gene therapy will improve the immune system function and overall health of the patients.

  3. Study Title: Functional Studies of the WAS Gene and Protein in Hematopoietic Cells

    Principal Investigator: Dr. Changchun Zhang

  4. Study Purpose: This study investigates the function of the WAS gene and protein in hematopoietic cells, which are involved in the production of blood cells. The researchers aim to understand how the mutation in the WAS gene affects the function of these cells and contributes to the development of Wiskott-Aldrich Syndrome.

  5. Study Title: The Natural History, Genetics, and Pathogenesis of the Wiskott-Aldrich Syndrome and Severe Congenital Neutropenia

    Principal Investigator: Dr. Kenneth G. Marcu

  6. Study Purpose: This study aims to learn more about the natural history, genetics, and pathogenesis of Wiskott-Aldrich Syndrome and Severe Congenital Neutropenia. The researchers will analyze the clinical and genetic data of patients with these rare genetic conditions to gain insights into their causes, inheritance patterns, and associated diseases.

These research studies, along with additional resources like PubMed and OMIM, contribute to our understanding of the Wiskott-Aldrich Syndrome and provide support for patients and advocacy groups. They help us learn more about the rare genetic condition, its causes, associated diseases, and testing methods. With increased scientific knowledge and research, we can develop better treatments and improve the lives of individuals with Wiskott-Aldrich Syndrome.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides valuable information for research, clinical testing, and patient advocacy. One of the rare genetic diseases included in OMIM is Wiskott-Aldrich syndrome.

Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder characterized by a triad of symptoms: eczema, thrombocytopenia (decreased platelet count), and immunodeficiency. The syndrome is caused by mutations in the Wiskott-Aldrich syndrome protein (WASP) gene.

The WASP gene encodes a protein that plays a critical role in the function of immune system cells, such as lymphocytes and platelets. Mutations in this gene result in a dysfunctional WASP protein, leading to the characteristic symptoms of Wiskott-Aldrich syndrome.

Patients with Wiskott-Aldrich syndrome may also have additional clinical features, such as increased susceptibility to infections, autoimmune disorders, and certain types of cancer. The frequency of Wiskott-Aldrich syndrome is estimated to be approximately 1 in 250,000 live births.

Scientific research on Wiskott-Aldrich syndrome and the WASP gene has provided valuable insights into the molecular mechanisms underlying this condition. Numerous articles and references about Wiskott-Aldrich syndrome can be found on PubMed, the world’s largest database of scientific research.

The Wiskott-Aldrich Syndrome Research and Treatment Center at Cincinnati Children’s Hospital Medical Center is a leading center for the diagnosis, treatment, and research of this rare condition. The center provides resources and information for patients, families, and healthcare professionals.

In addition to Wiskott-Aldrich syndrome, OMIM includes information on thousands of other genetic diseases. Each entry in the catalog provides details about the associated gene, inheritance pattern, clinical symptoms, and more. OMIM is a valuable resource for geneticists, clinicians, and researchers.

To learn more about Wiskott-Aldrich syndrome and other genetic diseases, visit the OMIM website or explore the scientific literature on PubMed. Clinical trials related to Wiskott-Aldrich syndrome can be found on ClinicalTrials.gov, a database of ongoing studies and research.

Summary of Wiskott-Aldrich Syndrome
Cause Inheritance Frequency Characterized by
Mutations in the WASP gene X-linked recessive Approximately 1 in 250,000 live births Eczema, thrombocytopenia, immunodeficiency

Scientific Articles on PubMed

The Wiskott-Aldrich syndrome (WAS) is a rare X-linked congenital disorder that causes a range of symptoms and complications. It is characterized by an increased frequency of infections, eczema, and bleeding. This condition is caused by mutations in the Wiskott-Aldrich syndrome protein (WASP) gene, which plays a crucial role in the function of immune cells.

There are several scientific articles on PubMed that provide valuable information about Wiskott-Aldrich syndrome. These articles cover various aspects of the condition, including its genetic causes, clinical manifestations, and possible treatment options. They can be a valuable resource for researchers, healthcare professionals, and patients.

Here are some references to scientific articles about Wiskott-Aldrich syndrome:

  1. Zhang, F., & Thrasher, A. J. (2011). Genetic and clinical advances in Wiskott-Aldrich syndrome. Experimental hematology, 39(8), 797-806.
  2. Wiskott-Aldrich Syndrome. (2021). In GeneReviews® [Internet]. University of Washington.
  3. Wiskott-Aldrich Syndrome. (n.d.). Retrieved from OMIM – Online Mendelian Inheritance in Man.
  4. Wiskott-Aldrich Syndrome. (n.d.). ClinicalTrials.gov. Retrieved from https://clinicaltrials.gov/ct2/results?cond=Wiskott-Aldrich+Syndrome

These articles provide additional information and research on the topic, each offering a unique perspective on the condition. They can help support clinical trials, studies, and genetic testing. By learning from these scientific resources, researchers and healthcare professionals can better understand the causes, symptoms, and treatment options for Wiskott-Aldrich syndrome.

In addition to scientific articles, there are several advocacy and support resources available for patients and their families, such as the Wiskott-Aldrich Foundation. These organizations provide valuable information, resources, and community support for individuals living with Wiskott-Aldrich syndrome.

References

Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.