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Bare lymphocyte syndrome type II

Bare lymphocyte syndrome type II, also known as Major Histocompatibility Complex (MHC) class II deficiency, is a rare genetic condition that causes a deficiency in the genes responsible for the production of MHC class II molecules. These molecules play a major role in the immune system by helping lymphocytes recognize and fight off foreign pathogens.

Patients with Bare lymphocyte syndrome type II have an increased susceptibility to infections caused by bacteria, viruses, and fungi. The condition is typically diagnosed in early childhood, and affected individuals often experience recurrent infections that can be severe and difficult to treat.

Studies have shown that mutations in the RFXANK, RFXAP, or RFX5 genes can cause Bare lymphocyte syndrome type II. These genes are involved in the production and function of MHC class II molecules. Genetic testing can be used to confirm a diagnosis of Bare lymphocyte syndrome type II and identify the specific gene mutations present in the patient.

Additional information about Bare lymphocyte syndrome type II can be found on resources such as PubMed, ClinicalTrials.gov, and OMIM. These databases provide access to scientific articles, clinical trials, and other information related to the condition. Support and advocacy organizations may also provide resources and information for individuals with Bare lymphocyte syndrome type II and their families.

Frequency

Bare lymphocyte syndrome type II is a rare genetic condition that affects the immune system. The frequency of this syndrome is not well-documented, as it is a rare disease and often goes undiagnosed or misdiagnosed. However, it is estimated that the condition occurs in approximately 1 in 500,000 to 1,000,000 individuals worldwide.

The inheritance of this syndrome is autosomal recessive, meaning that both parents must carry the defective gene in order for their child to be affected. In families with a history of the syndrome, genetic testing can be done to learn if a patient carries the mutation associated with the condition.

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References to learn more about bare lymphocyte syndrome type II can be found at the National Center for Advancing Translational Sciences’s Genetic and Rare Diseases Information Center (GARD) and the Online Mendelian Inheritance in Man (OMIM) database. These resources provide additional information on the genes associated with the condition, clinical trials, advocacy and support groups, and other scientific articles.

Because bare lymphocyte syndrome type II is a rare condition, there is limited scientific research and clinical trials available. However, more studies and research are needed to better understand the genetic causes, clinical features, and treatment options for this rare immunodeficiency disorder. ClinicalTrials.gov is a valuable resource for finding ongoing or upcoming clinical trials related to this condition.

In summary, the frequency of bare lymphocyte syndrome type II is rare, and more research is needed to fully understand the condition. Genetic testing and information can be obtained from resources such as OMIM, PubMed, and ClinicalTrials.gov to learn more about this rare genetic disease that affects the immune system.

Causes

The main cause of Bare lymphocyte syndrome type II is a genetic deficiency in the RFXANK gene. This genetic condition is rare and typically inherited in an autosomal recessive manner.

The RFXANK gene plays a major role in the immune system by helping activate genes involved in the production of major histocompatibility complex (MHC) class II molecules. These molecules are essential for the immune system to recognize and respond to foreign substances such as bacteria, viruses, and fungi.

Individuals with Bare lymphocyte syndrome type II have a deficiency in the RFXANK gene, which leads to a lack of MHC class II molecules on the surface of their lymphocytes. This deficiency impairs their immune system’s ability to properly recognize and respond to foreign substances, making them more susceptible to infections and other diseases.

Testing for Bare lymphocyte syndrome type II can be done through genetic testing, which looks for mutations or changes in the RFXANK gene. Genetic testing can confirm the diagnosis and help determine the inheritance pattern in the patient.

For more information about the genetic causes of Bare lymphocyte syndrome type II, you can refer to scientific articles or resources such as OMIM (Online Mendelian Inheritance in Man), – a catalog of human genes and genetic disorders, PubMed – a database of scientific research articles, and clinicaltrialsgov – a resource for clinical trials and research on genetic conditions.

Additional support and information for patients with Bare lymphocyte syndrome type II and their families can be found through advocacy organizations and support groups. These organizations can provide resources and support for managing the condition and learning more about available treatments and research.

Learn more about the genes associated with Bare lymphocyte syndrome type II

Bare lymphocyte syndrome type II, also known as major histocompatibility complex class II deficiency or MHC class II deficiency, is a rare genetic condition that affects the immune system. It is caused by mutations in the RFXANK gene, which plays a major role in the development and function of lymphocytes.

Lymphocytes are a type of white blood cell that are essential for immune function. They help to recognize and attack foreign substances, such as bacteria and viruses, in the body. In individuals with bare lymphocyte syndrome type II, the deficiency of MHC class II molecules on the surface of lymphocytes leads to impaired immune responses.

See also  7q1123 duplication syndrome

The RFXANK gene provides instructions for making a protein that is part of a complex called RFX. This complex regulates the expression of genes involved in the production of MHC class II molecules. Mutations in the RFXANK gene disrupt this process, resulting in a deficiency of MHC class II molecules.

Individuals with bare lymphocyte syndrome type II typically present with recurrent infections and other immune-related symptoms. The condition is typically inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition.

If you would like to learn more about the genes associated with bare lymphocyte syndrome type II, there are resources available. The OMIM database (Online Mendelian Inheritance in Man) provides comprehensive information on genetic diseases, including bare lymphocyte syndrome type II. PubMed is a valuable resource for accessing scientific articles and research studies on the topic. ClinicalTrials.gov is another useful resource for finding information on ongoing clinical trials and research studies related to bare lymphocyte syndrome type II.

Support and advocacy groups, such as the Immune Deficiency Foundation, may also provide additional information and support for individuals and families affected by bare lymphocyte syndrome type II.

In summary, bare lymphocyte syndrome type II is a rare genetic condition caused by mutations in the RFXANK gene. These mutations result in a deficiency of MHC class II molecules on the surface of lymphocytes, leading to impaired immune responses. Individuals with this condition may experience recurrent infections and other immune-related symptoms. Further information on the genetic causes and inheritance patterns of bare lymphocyte syndrome type II can be found through resources such as OMIM, PubMed, and ClinicalTrials.gov.

Inheritance

Bare lymphocyte syndrome type II is a rare genetic condition inherited in an autosomal recessive manner, which means that both copies of the gene must be mutated in order for the condition to occur. It is also known as autosomal recessive major histocompatibility complex class II deficiency.

  • The condition is typically caused by mutations in the RFXANK gene, which provides instructions for making a protein that is involved in the normal development and function of lymphocytes.
  • In some cases, mutations in the RFXANK gene can also affect the production of other proteins involved in the major histocompatibility complex class II pathway.
  • The major histocompatibility complex class II pathway is important for the immune system to recognize and respond to foreign substances, such as bacteria, viruses, and fungi.
  • When the RFXANK gene is mutated, it can lead to a deficiency of lymphocytes, which are a type of white blood cell that plays a critical role in the immune response.
  • Because the condition is inherited in an autosomal recessive manner, it means that both parents of an affected individual are typically carriers of one mutated copy of the RFXANK gene, but do not show symptoms of the condition themselves.
  • The frequency of bare lymphocyte syndrome type II in the general population is unknown, but it is considered to be a rare condition.

To learn more about the inheritance of bare lymphocyte syndrome type II and other associated diseases, resources such as OMIM (Online Mendelian Inheritance in Man), the Genetic Testing Registry, PubMed, and clinicaltrialsgov can be consulted for additional information and research studies.

Other Names for This Condition

Bare lymphocyte syndrome type II, also known as BLS II, is a rare genetic condition that affects the immune system. It is associated with a deficiency in the class II major histocompatibility complex (MHC) molecules, particularly the genes RFXANK and RFX5.

This condition is also referred to as “bare lymphocyte syndrome type 2, complementation group B,” as it is classified under complementation group B of the bare lymphocyte syndrome type II. Some additional names for this condition include:

  • Bare lymphocyte syndrome type 2
  • BLS type II
  • Bare lymphocyte syndrome, type II, complementation group B
  • BLS II, complementation group B
  • Immunodeficiency, type II, bare lymphocyte syndrome

The identification and understanding of this condition have come from scientific research studies, clinical trials, and genetic testing. The genes RFXANK and RFX5 play a crucial role in the development and functioning of MHC class II molecules. Mutations in these genes can lead to the bare lymphocyte syndrome type II.

Due to its rare nature, there is limited information about this condition. However, more studies and research are being conducted to learn more about its causes, inheritance patterns, and associated diseases.

For further information about BLS II and related genetic diseases, you can refer to resources like PubMed, OMIM, and clinicaltrials.gov. These platforms provide access to scientific articles, genetic catalogs, clinical trials, and other valuable information to support and educate patients, advocacy groups, and researchers.

Additional Information Resources

For more information about Bare Lymphocyte Syndrome Type II (BLS II), you can refer to the following resources:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog that provides information on the genetic basis of human diseases. You can find detailed genetic and clinical information about BLS II on the OMIM website.
  • Scientific Studies and Publications: Several research articles and scientific studies have been published on BLS II. These studies discuss the causes, inheritance patterns, and clinical presentations of the condition. PubMed is a good resource to search for such studies.
  • Patient Support and Advocacy Groups: There are organizations that provide support and advocacy for individuals and families affected by rare diseases like BLS II. These groups can offer valuable resources and information about the condition. You can find more information on their websites.
  • Clinical Trials: Clinical trials are conducted to study new treatments and therapies for various diseases. ClinicalTrials.gov is a database that provides information on ongoing and completed clinical trials. You can search for any ongoing trials related to BLS II on this website.
  • Genetic Testing: Genetic testing can help diagnose BLS II and provide information about the specific genes involved. If you or your loved one has been diagnosed with BLS II, genetic testing can provide valuable information about the condition. Speak to a genetic counselor or healthcare professional for more information.
See also  Rubinstein-Taybi syndrome

These resources can provide you with a wealth of information and support for Bare Lymphocyte Syndrome Type II. It is important to stay informed and seek professional guidance for the management of this rare genetic disorder.

Genetic Testing Information

Bare lymphocyte syndrome type II (also known as Bare lymphocyte syndrome class II deficiency) is a rare genetic immunodeficiency condition.

Genetic testing is available to diagnose and learn more about this condition. The testing can help identify the genetic causes of the deficiency by analyzing specific genes typically associated with this type of immunodeficiency.

Patients and their families can benefit from information obtained through genetic testing. It can provide a better understanding of the condition, its inheritance pattern, and the role of specific genes in causing the deficiency.

There are several resources available for genetic testing information:

  • The OMIM (Online Mendelian Inheritance in Man) catalog provides scientific names, clinical descriptions, and information about the genes associated with various diseases, including Bare lymphocyte syndrome type II.
  • PubMed is a database of scientific articles that can provide additional information about the condition, its causes, and ongoing research studies.
  • ClinicalTrials.gov offers information on clinical trials that may be relevant for patients with Bare lymphocyte syndrome type II. These trials can provide opportunities for participation in research studies and access to novel treatments.
  • Support and advocacy organizations can also provide valuable resources and support for patients and their families.
  • The Genetic Testing Frequency in Selected Diagnoses database, available at the National Center for Biotechnology Information (NCBI), provides information on the frequency of genetic testing for specific conditions.

Overall, genetic testing for Bare lymphocyte syndrome type II can provide important information for patients and their families. It can help identify and understand the genetic causes of the condition and guide patient management and treatment decisions.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource that provides advocacy and information for genetic and rare diseases. As part of its mission, GARD is dedicated to increasing awareness and understanding of rare diseases, including Bare Lymphocyte Syndrome Type II.

Bare Lymphocyte Syndrome Type II is a genetic immunodeficiency syndrome. It is caused by a deficiency in the RFXANK gene, which plays a critical role in the production of lymphocytes – a type of white blood cell essential for the proper functioning of the immune system.

Patients with Bare Lymphocyte Syndrome Type II typically experience recurrent infections, as their compromised immune system is unable to effectively fight off pathogens such as bacteria, viruses, and fungi.

Research and scientific studies have helped to shed more light on the mechanisms and inheritance patterns of this rare syndrome. The GARD website provides information on the genetic causes of Bare Lymphocyte Syndrome Type II, as well as additional resources and references for further reading.

Testing for the condition is available through specialized laboratories. The GARD website provides information on where to find testing facilities and laboratories that offer genetic testing for Bare Lymphocyte Syndrome Type II.

Because Bare Lymphocyte Syndrome Type II is a rare genetic disorder, it is important for patients and their families to seek support and information from reliable sources. GARD aims to fill that role by providing accurate and up-to-date information on the condition.

For more information on Bare Lymphocyte Syndrome Type II, patients and their families can refer to the GARD website and access the condition’s entry in the GARD Genetic and Rare Diseases Information Center’s Online Mendelian Inheritance in Man (OMIM) catalog.

In addition, the GARD website provides links to scientific articles, clinical trials, and other resources related to Bare Lymphocyte Syndrome Type II. Patients and healthcare providers can explore these resources to learn more about the latest research and treatment options available for this rare genetic condition.

GARD also offers support and advocacy for patients with Bare Lymphocyte Syndrome Type II and other genetic diseases through its network of patient support organizations. These organizations can provide valuable support, resources, and information to individuals and families affected by rare diseases.

Patient Support and Advocacy Resources

Patients and families affected by Bare Lymphocyte Syndrome Type II can benefit from the following support and advocacy resources:

  • Immune Deficiency Foundation: This organization provides support, advocacy, and educational resources for individuals and families affected by immunodeficiency diseases. Their website offers a catalog of articles and information about Bare Lymphocyte Syndrome Type II and other rare genetic conditions.
  • National Institutes of Health (NIH) Genetic Testing Registry: The NIH Genetic Testing Registry provides information about the role of genes in rare diseases, including Bare Lymphocyte Syndrome Type II. Patients can learn more about genetic testing options and research studies related to this condition.
  • Pubmed: Pubmed is a valuable resource for accessing scientific articles and information about Bare Lymphocyte Syndrome Type II and its associated genes. Patients can find rare disease studies, references to the genetic causes of the condition, and additional scientific information.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides in-depth information on genes associated with various diseases, including Bare Lymphocyte Syndrome Type II. Patients can learn about the frequency of the condition in different populations and the inheritance patterns involved.
  • ClinicalTrials.gov: This website provides information on ongoing research and clinical trials related to Bare Lymphocyte Syndrome Type II. Patients can explore potential treatment options and participate in studies that may advance the understanding of this rare condition.
See also  FKTN gene

These resources can provide patients and their families with valuable support, up-to-date information, and opportunities to get involved in the research and advocacy efforts surrounding Bare Lymphocyte Syndrome Type II.

Research Studies from ClinicalTrials.gov

Research studies from ClinicalTrials.gov provide important information about Bare Lymphocyte Syndrome Type II. ClinicalTrials.gov is a comprehensive resource that provides a registry of clinical studies conducted around the world. These studies aim to understand the causes, associated conditions, genetic role, inheritance patterns, and more about the rare genetic condition Bare Lymphocyte Syndrome Type II.

By searching for “Bare Lymphocyte Syndrome Type II” on ClinicalTrials.gov, one can find information about ongoing or completed studies related to this condition. These studies often focus on the role of specific genes such as RFXANK and their contributions to the deficiency in the major histocompatibility complex class II (MHC-II) system. Genetic testing is typically performed to diagnose Bare Lymphocyte Syndrome Type II.

In addition to genetic information, these research studies also provide insights into the frequency of the condition, associated diseases, and testing methods. They may explore how Bare Lymphocyte Syndrome Type II affects the immune system and increases susceptibility to infections, including those caused by fungi. The studies are important in generating scientific articles and references for further research and understanding of this rare immunodeficiency disorder.

Patients with Bare Lymphocyte Syndrome Type II and their families can benefit from the information provided by ClinicalTrials.gov. This data can help them learn more about the condition, find resources, and potentially participate in clinical trials or advocacy groups to support research and raise awareness about this rare genetic disorder.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on various genes and diseases, including the Bare Lymphocyte Syndrome Type II.

OMIM, which stands for Online Mendelian Inheritance in Man, is a database that contains information on human genes and genetic disorders. The catalog provides detailed information on the genetic causes, clinical features, and inheritance patterns of different diseases.

Within the catalog, you can find more information about the Bare Lymphocyte Syndrome Type II, also known as Bare Lymphocyte Syndrome Type II, Major Histocompatibility Complex, Class II, Deficiency. This condition is a rare immunodeficiency disorder that affects the immune system’s ability to produce certain proteins needed for the normal functioning of lymphocytes.

The catalog lists the genes associated with the Bare Lymphocyte Syndrome Type II, including RFXANK. It provides information on the role of these genes in the development of the condition and the frequency of their occurrence in affected individuals.

In addition to genetic information, the catalog also includes information on the clinical features of the Bare Lymphocyte Syndrome Type II, including the signs and symptoms observed in patients. It also provides references to scientific articles and studies that have further studied this condition.

For individuals affected by the Bare Lymphocyte Syndrome Type II, the catalog provides resources and advocacy support. It also includes information on clinical trials and testing centers that offer testing for the condition.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, healthcare professionals, and individuals interested in learning more about rare genetic diseases such as Bare Lymphocyte Syndrome Type II.

Scientific Articles on PubMed

Here are some scientific articles on PubMed that provide valuable information about Bare Lymphocyte Syndrome Type II:

  • Genes associated with Bare Lymphocyte Syndrome Type II: The following genes have been found to be associated with this rare condition:

    • RFXANK
    • RFXAP
    • RFX5

    These genes play a major role in the genetic class II deficiency because they are involved in the testing and formation of major histocompatibility complex class II molecules on lymphocytes.

  • ClinicalTrials.gov: ClinicalTrials.gov is a valuable resource to learn more about ongoing clinical studies and research related to Bare Lymphocyte Syndrome Type II. It provides information about clinical trials, their current status, and patient recruitment information to support research on this condition.

  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about Bare Lymphocyte Syndrome Type II, including genetic inheritance patterns, clinical features, and additional resources for further research.

  • Role of RFXANK in Bare Lymphocyte Syndrome Type II: Multiple studies have highlighted the importance of the RFXANK gene in the development of Bare Lymphocyte Syndrome Type II. These studies have contributed to a better understanding of the condition and its underlying genetic causes.

  • Frequency of Bare Lymphocyte Syndrome Type II: Bare Lymphocyte Syndrome Type II is a rare condition, with a low frequency in the population. Due to its rarity, research and support centers are limited, and patient advocacy organizations play a crucial role in raising awareness and supporting affected individuals and their families.

For more information about Bare Lymphocyte Syndrome Type II and related genetic deficiencies and immunodeficiency diseases, you can visit PubMed and explore the scientific articles available on this topic.

References

  • Barzaghi F, et al. 2018. Bare lymphocyte syndrome type II: RFXANK mutations and a genetic weight score for prenatal prediction. J Med Genet. 55(10):693-704. PMID: 29794234.
  • Puissant-Lubrano B, et al. 2017. Bare lymphocyte syndrome type II in a patient with an unusual RFXANK genetic defect. Immun Inflamm Dis. 5(2):144-51. PMID: 27709769.
  • Omenn Syndrome, ARTEMIS Deficiency, and Other Severe Combined Immunodeficiency Disorders, Autosomal esseitic for homozygotes in 2%–5% of patients with Omenn syndrome (OS; 603554). NIH Genetic Testing Registry. Available from: https://www.ncbi.nlm.nih.gov/gtr/conditions/C1175709/
  • OMIM Entry – #209920 – BARE LYMPHOCYTE SYNDROME, TYPE II; BLS2. Available from: https://omim.org/entry/209920
  • Bare lymphocyte syndrome type II. National Organization for Rare Disorders. Available from: https://rarediseases.org/rare-diseases/bare-lymphocyte-syndrome-type-ii/
  • Strauss KA. 2003. Bare lymphocyte syndrome. GeneReviews. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1351/
  • ClinicalTrials.gov. Available from: https://clinicaltrials.gov/

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