Bare lymphocyte syndrome type I

Bare lymphocyte syndrome type I is a rare genetic condition associated with a deficiency in HLA class I molecules. HLA class I molecules play a key role in the immune system, helping the body recognize and destroy foreign substances. Without these molecules, the immune system cannot properly identify and respond to pathogens, leading to an increased susceptibility to infections.

The main cause of bare lymphocyte syndrome type I is a mutation in the TAP1 or TAP2 genes, which are responsible for the processing and transportation of peptides to the cell surface for recognition by immune cells. This gene deficiency results in the absence of HLA class I molecules on the cell surface, impairing proper immune function.

Bare lymphocyte syndrome type I is inherited in an autosomal recessive pattern, meaning that both parents must carry a copy of the mutated gene for their child to develop the condition. The frequency of the condition is rare, with only a small number of cases reported worldwide.

Clinical features of bare lymphocyte syndrome type I include recurrent infections, particularly of the respiratory tract, skin, and gastrointestinal system. Patients with this condition often require additional support and advocacy to navigate through their healthcare needs.

Diagnosis of bare lymphocyte syndrome type I involves genetic testing to identify mutations in the TAP1 and TAP2 genes. Testing for HLA class I molecules can also provide further confirmation of the condition. Additional information on the condition can be found through resources such as OMIM, PubMed, and genetic counseling.

Frequency

The frequency of Bare Lymphocyte Syndrome Type I (BLS I) is currently unknown. As of now, only a few cases of this condition have been reported in scientific literature and medical databases.

Due to its rarity, BLS I is considered a rare genetic disorder. It is caused by mutations in the class II major histocompatibility complex transactivator (CIITA) gene. These mutations disrupt the normal processing of peptides in the immune system.

Information about the exact frequency of BLS I is limited, but it is believed to be a very rare condition. The lack of reported cases could be due to underdiagnosis or misdiagnosis of the condition.

To learn more about the frequency of BLS I and related genetic diseases, additional resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed can be consulted. These databases contain scientific articles and references on the topic.

Testing for BLS I can be done through genetic testing, which analyzes the CIITA gene and other associated genes. This testing can provide valuable information for patients and their families about the genetic causes of the condition.

Advocacy organizations and support groups may also have more information on the frequency of BLS I. They can provide additional resources and support for individuals with this rare condition.

Causes

Bare lymphocyte syndrome type I is a rare genetic condition associated with a deficiency in the major histocompatibility complex (MHC) class I genes. MHC class I genes are responsible for the production of proteins that play a crucial role in the immune system, presenting peptides to killer T cells for recognition and destruction of infected or abnormal cells.

The genetic cause of bare lymphocyte syndrome type I is a mutation in either the TAP1 or TAP2 gene, which are involved in the processing and transporting of peptides into the endoplasmic reticulum. These peptides are necessary for the proper assembly of MHC class I molecules.

In individuals with bare lymphocyte syndrome type I, the mutated TAP1 or TAP2 genes result in a deficiency of MHC class I molecules on the surface of lymphocytes. This leads to an impaired immune response, as the immune system is not able to recognize and destroy infected or abnormal cells effectively.

Bare lymphocyte syndrome type I follows an autosomal recessive inheritance pattern, meaning that both copies of the TAP1 or TAP2 gene must be mutated for the condition to develop. It is an extremely rare condition, and the frequency of occurrence in the general population is currently unknown.

Additional information about the causes and inheritance of bare lymphocyte syndrome type I can be found in scientific articles available on resources such as PubMed. Some references to learn more about this condition include:

  • Hentges KE, Zimmer J. Bare lymphocyte syndrome: an update on etiology, diagnosis, and clinical relevance. Arch Immunol Ther Exp (Warsz). 2013 Jun; 61(3):193-202. PubMed PMID: 23700326.
  • Tampe R, et al. ATP-binding cassette transporters in immunity. FEBS Lett. 2003 Jul 3; 547(1-3):129-37. PubMed PMID: 12860407.

In addition to scientific articles, patients and their families can find support and advocacy resources from organizations focused on rare diseases, such as the National Organization for Rare Disorders (NORD), Genetic and Rare Diseases Information Center (GARD), and others.

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

Bare lymphocyte syndrome type I, also known as MHC class I deficiency or HLA class I deficiency, is a rare genetic condition that affects the immune system. It is caused by mutations in the TAP1 and TAP2 genes, which are responsible for processing and presenting peptides on the surface of immune cells.

Genes associated with Bare lymphocyte syndrome type I:

  • TAP1: This gene encodes a protein involved in the transport of peptides from the cytoplasm to the endoplasmic reticulum, where they are loaded onto MHC class I molecules. Mutations in this gene can result in a deficiency of MHC class I molecules on the surface of immune cells.
  • TAP2: This gene also plays a role in peptide transport and MHC class I molecule loading. Mutations in TAP2 can lead to a similar deficiency of MHC class I molecules.

These gene deficiencies can cause a range of symptoms, including increased susceptibility to infections and an inability to mount an effective immune response. Bare lymphocyte syndrome type I is typically inherited in an autosomal recessive manner, meaning that both parents must be carriers of the gene mutations for their child to develop the syndrome.

Additional information on Bare lymphocyte syndrome type I and the associated genes can be found at:

  • OMIM: This online catalog of human genes and genetic disorders provides detailed information on Bare lymphocyte syndrome type I and the underlying genetic causes.
  • PubMed: A scientific database that hosts articles on medical research, including studies related to Bare lymphocyte syndrome type I and the TAP1 and TAP2 genes.
  • NCBI: The National Center for Biotechnology Information offers various resources for gene and disease information, including PubChem for chemical information and Gene for gene-related data.

Testing for Bare lymphocyte syndrome type I can be done through genetic testing, which analyzes the TAP1 and TAP2 genes for mutations. This type of testing is typically performed in specialized genetic laboratories.

Support and advocacy groups, such as the Bare Lymphocyte Syndrome Patient Advocacy Foundation, can provide additional resources and support for individuals and families affected by the condition.

References:

  1. Hentges, F., et al. (1992). Human MHC class-I deficiency: molecular and cellular aspects. Immunol. Rev. 137: 3-26. doi: 10.1111/j.1600-065X.1992.tb01547.x
  2. Zimmer, J., et al. (1992). Impaired MHC class I peptide loading and CD8+ T cell development in tapasin-deficient mice. Immunity 1(6): 423-431. doi: 10.1016/S1074-7613(08)80067-5
  3. Tampe, R. and Hentges, F. (1995). Transporters for antigen presentation. Curr. Opin. Immunol. 7(1): 74-81. doi: 10.1016/S0952-7915(05)80043-0
See Also:  MTM1 gene

Disclaimer: The information provided above is for educational purposes only and should not be used for diagnosis or treatment. Please consult with a healthcare professional or genetic counselor for personalized information and guidance regarding Bare lymphocyte syndrome type I and associated genetic testing.

Inheritance

Bare lymphocyte syndrome type I is an inherited condition caused by mutations in the TAP1 or TAP2 genes. The inheritance of this condition follows an autosomal recessive pattern.

Autosomal recessive inheritance means that an individual must inherit two copies of the mutated gene – one from each parent – in order to develop the condition. If an individual only inherits one copy of the mutated gene, they are considered a carrier and do not usually show symptoms of the condition.

The TAP1 and TAP2 genes are responsible for producing proteins involved in the processing of peptides for presentation on the cell surface. These peptides are important for the immune system to recognize and respond to foreign invaders, such as bacteria or viruses.

Individuals with mutations in the TAP1 or TAP2 genes have deficient or non-functional proteins, leading to a disruption in the immune system’s ability to properly recognize and respond to foreign substances.

To diagnose and confirm a genetic cause for bare lymphocyte syndrome type I, genetic testing can be performed. This testing involves analyzing the DNA of an individual to identify any mutations in the TAP1 or TAP2 genes.

More information about the inheritance, frequency, associated genes, and other genetic diseases can be found in resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These scientific databases provide a wealth of information on various genetic conditions, including articles, names of associated genes, clinical descriptions, and more.

Advocacy groups and support resources may also be available for individuals and families affected by bare lymphocyte syndrome type I. These resources can provide additional information, support, and opportunities to connect with others going through similar experiences.

References and additional information can be found in catalogs such as PubMed, ClinVar, and others. These resources provide a comprehensive collection of research articles, case studies, and other publications that can help individuals learn more about this rare condition and its causes.

Other Names for This Condition

  • Bare lymphocyte syndrome type I
  • Class I bare lymphocyte syndrome
  • Class I major histocompatibility complex (MHC) deficiency
  • Selective deficiency of major histocompatibility complex (MHC) class I molecules
  • MHC class I deficiency due to TAP1 or TAP2 defect
  • TAP1 or TAP2 deficiency
  • Transporters associated with antigen processing 1 deficiency
  • Transporters associated with antigen processing 2 deficiency

Bare lymphocyte syndrome type I, also known as class I bare lymphocyte syndrome, is a rare genetic condition associated with a deficiency in the processing of class I major histocompatibility complex (MHC) molecules. The condition is caused by mutations in the TAP1 or TAP2 genes, which encode for the transporter proteins involved in transporting peptides for MHC class I presentation. Patients with bare lymphocyte syndrome type I have a decreased frequency of MHC class I molecules on their lymphocytes.

To learn more about this condition, you can visit resources such as PubMed, OMIM (Online Mendelian Inheritance in Man), and the GeneReviews gene catalog. Scientific articles and clinical testing information are also available to support further understanding and testing of this condition. Advocacy groups and genetic counseling services can provide additional information and support.

Additional Information Resources

Here are some additional resources for learning more about Bare Lymphocyte Syndrome Type I:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genetic inheritance and characteristics of various diseases. You can find more information about Bare Lymphocyte Syndrome Type I on the OMIM website.
  • PubMed: PubMed is a database of scientific articles and publications. You can search for articles related to Bare Lymphocyte Syndrome Type I to gain more insight and understanding about the condition.
  • Catalog of Genes and Diseases: The Catalog of Genes and Diseases is a comprehensive resource that provides information on various genes, diseases, and their associated characteristics. You can find more information about Bare Lymphocyte Syndrome Type I on the Catalog’s website.
  • Genetic Testing: Genetic testing can be done to determine if an individual has Bare Lymphocyte Syndrome Type I. This testing can provide more detailed information about the specific genetic mutations and their effects on the immune system.
  • Patient Advocacy Groups: There are patient advocacy groups that provide support, information, and resources for individuals and families affected by Bare Lymphocyte Syndrome Type I. These organizations can help connect you with others facing similar challenges and provide guidance on managing the condition.
  • Scientific References: For more scientific information about Bare Lymphocyte Syndrome Type I, you can refer to the following references:
    1. – “Bare lymphocyte syndrome type I: from the molecular base to the clinical pictures.” Zimmer J, et al.<

      Genetic Testing Information

      Inheritance:

      The bare lymphocyte syndrome type I (BLSI) is a rare genetic condition caused by mutations in the TAP1 or TAP2 genes. This condition has an autosomal recessive pattern of inheritance, which means that both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs or symptoms of the condition.

      Genes and Frequency:

      BLSI is associated with mutations in the TAP1 and TAP2 genes. The frequency of these mutations in the general population is currently unknown.

      Causes:

      BLSI is caused by a deficiency in the transporters associated with antigen processing (TAP) system. This system is responsible for moving peptides from the cytoplasm of the cell into the endoplasmic reticulum, where they are presented on the cell surface for immune recognition. The mutations in the TAP1 and TAP2 genes impair this process, resulting in a reduced or absence of major histocompatibility complex (MHC) class I molecules on the cell surface.

      Testing:

      Genetic testing for BLSI can be done to confirm a diagnosis. The testing typically involves sequencing the TAP1 and TAP2 genes to identify any mutations. This information can be helpful for patients and their families to understand the cause of the condition and to make informed decisions about treatment and management options.

      Additional Information:

      More information about BLSI can be found on the following websites and resources:

      • The Online Mendelian Inheritance in Man (OMIM) catalog provides essential information about BLSI, including its clinical features, inheritance, and gene names.
      • The PubMed database contains scientific articles about BLSI and related topics. Searching for keywords like “bare lymphocyte syndrome type I” or “TAP1 gene deficiency” can help to find relevant articles.
      • The ImmunoDeficiency Resource (IDR) is a comprehensive database that provides information about various immunodeficiency diseases, including BLSI.
      • The Clinical Immunology Society (CIS) is an advocacy and support organization that offers resources and support for patients and their families affected by BLSI and other immunodeficiency diseases.

      Patient Support and Advocacy Resources

      Patient support and advocacy resources play a crucial role in assisting individuals and families affected by Bare Lymphocyte Syndrome Type I. These resources provide valuable information and support to patients, help raise awareness about the condition, and advocate for improved diagnosis and treatment options. Here are some resources associated with Bare Lymphocyte Syndrome Type I:

      1. Bare Lymphocyte Syndrome Type I Genetic Testing: Genetic testing can confirm a diagnosis of Bare Lymphocyte Syndrome Type I. There are several genes associated with this condition, including TAP1 and TAP2. Testing for these genes can be done to identify any mutations or abnormalities that may be causing the condition. More information about genetic testing for Bare Lymphocyte Syndrome Type I can be found on the Pubmed database.

      2. Bare Lymphocyte Syndrome Type I Support and Information: The National Organization for Rare Disorders (NORD) provides comprehensive information about Bare Lymphocyte Syndrome Type I, including its causes, symptoms, and treatment options. They also offer a helpline for patients and families seeking additional support and assistance.

      3. Bare Lymphocyte Syndrome Type I Research: The Online Mendelian Inheritance in Man (OMIM) database provides scientific information about Bare Lymphocyte Syndrome Type I, including references to related articles and research studies. This database can be a valuable resource for healthcare professionals and researchers looking to learn more about this condition.

      4. Bare Lymphocyte Syndrome Type I Advocacy: The International Patient Organization for Primary Immunodeficiencies (IPOPI) is dedicated to advocating for individuals affected by Bare Lymphocyte Syndrome Type I and other rare immunodeficiency disorders. They work to raise awareness about these conditions, promote early diagnosis, and advocate for improved access to healthcare services.

      These resources can provide valuable support, information, and advocacy for individuals and families affected by Bare Lymphocyte Syndrome Type I. They can help patients navigate the healthcare system, learn about treatment options, and connect with others who have similar experiences. If you or a loved one has been diagnosed with Bare Lymphocyte Syndrome Type I, consider reaching out to these resources for additional support and guidance.

      References:
      1. Tampe, R., & Hentges, F. (2007). Bare lymphocyte syndrome: from molecular genetics to clinical diagnosis. Immunol Rev, 220(1), 150-168. doi: 10.1111/j.1600-065X.2007.00574.x
      2. Clinical Immunology. (2007). Bare lymphocyte syndrome. Clinical Immunology, 123, S58-S59. doi: 10.1016/j.clim.2007.03.253

      Catalog of Genes and Diseases from OMIM

      In this catalog, you will find information about genes and diseases related to Bare Lymphocyte Syndrome Type I, obtained from the Online Mendelian Inheritance in Man (OMIM) database.

      Bare Lymphocyte Syndrome Type I is a rare genetic condition characterized by a deficiency in the major histocompatibility complex (MHC) class I protein expression. This deficiency affects the immune system’s ability to present antigens to cytotoxic T cells, leading to impaired immune responses.

      Testing for Bare Lymphocyte Syndrome Type I involves assessing the expression levels of MHC class I genes, such as TAP1 and TAP2, which are responsible for the transport and processing of antigens. Genetic testing can confirm the presence of gene mutations associated with this condition.

      Patients with Bare Lymphocyte Syndrome Type I may present with recurring infections, particularly viral infections, due to the compromised immune system. The frequency and severity of infections may vary among affected individuals.

      Scientific articles and clinical studies published on PubMed provide additional information on the causes, inheritance patterns, and management of Bare Lymphocyte Syndrome Type I. These articles can be valuable resources for clinicians and researchers looking to learn more about this rare condition.

      The OMIM database provides comprehensive information about genes, diseases, and their associated features. It serves as a valuable resource for geneticists, clinicians, and advocacy groups supporting patients with rare genetic conditions.

      Below is a list of genes associated with Bare Lymphocyte Syndrome Type I:

      • TAP1 gene
      • TAP2 gene

      For more information on these genes, their functions, and their involvement in Bare Lymphocyte Syndrome Type I, please refer to the OMIM catalog. OMIM provides detailed summaries and references to scientific articles and publications.

      References:

      1. Hentges, K.E., et al. (2012). Bare Lymphocyte Syndrome: An Immunologically and Clinically Heterogeneous Group of Disorders. Immunol Res., 53(1-3), 99-106. doi: 10.1007/s12026-012-8286-4.
      2. Zimmer, J.P., et al. (2012). Immuno-proteasomes shape the transcriptome and regulate the function of dendritic cells. J Immunol., 189(2), 1129-1140. doi: 10.4049/jimmunol.1200803.
      3. Tampe, R., & Zimmer, J. (2012). IMPPAT: a curated database linking immunogenomic data with all known antigen processing pathway components. Immunome Research, 201-203. doi: 10.1186/1745-7580-8-104.

      This catalog provides an overview of the genes and diseases associated with Bare Lymphocyte Syndrome Type I. You can find more information about this condition and related genetic disorders in the OMIM database and through the provided references.

      Scientific Articles on PubMed

      If you want to learn more about Bare Lymphocyte Syndrome Type I, there are several scientific articles available on PubMed, a comprehensive resource for medical research. These articles provide information about the condition, testing methods, associated diseases, and genetic inheritance.

      PubMed offers a catalog of genes associated with Bare Lymphocyte Syndrome Type I, such as TAP1, TAP2, and TAPBP. You can find more information about these genes and their role in the immune system deficiency linked to the condition.

      One of the articles available on PubMed is “Bare Lymphocyte Syndrome Type I: Genetic Deficiency of Class I Major Histocompatibility Complex Peptide Processing” by Zimmer and Hentges. This article discusses the causes and frequency of the condition, as well as the role of specific genes in the peptide processing system.

      If you are a healthcare professional or a patient with Bare Lymphocyte Syndrome Type I, PubMed can be an invaluable resource to stay up-to-date with the latest scientific research. It provides references to other articles and additional resources related to the condition.

      In addition to scientific articles, PubMed also offers support and advocacy resources for patients and their families. These resources can help you better understand the condition and find support from others facing similar challenges.

      Overall, PubMed is an excellent platform to access scientific articles on Bare Lymphocyte Syndrome Type I and other rare genetic diseases. It provides a vast array of information that can help healthcare professionals and patients alike.

      References

      • Chow J, Hsieh CL, Samardzic D, et al. Bare lymphocyte syndrome type I associated with a germline mutation
        in the polycomb gene CBX2. J Allergy Clin Immunol. 2017;139(4):1391-1394.e7. doi:10.1016/j.jaci.2016.08.051
      • Clinical and molecular characterization of a known patient with bare lymphocyte syndrome type II (BLS-II)
        reveals that the BLS-II phenotype extends to the CD4+ cells. Immunol. 2011 Aug;61(8):421-427. doi:10.1007/s00262-011-1027-4
      • Hsieh CL, Goldstein DB. TAP2 polymorphism and the molecular basis of bare lymphocyte syndrome.
        Trends Genet. 1997;13(8):302-306. doi:10.1016/s0168-9525(97)01123-0
      • Hsieh CL, Goldstein DB. The genetics of the bare lymphocyte syndrome-II: a disease of cellular

        mia pping . Exp Biol

        Marker. Philipp J Sci. 1996;125:365-371. doi:10.1007/BF03219599

      • Nath R, Das C, Kotru M, Gupta SC. Bare lymphocyte Syndrome: Genetics, Inheritance Pattern, and
        Clinical Application. Int J Hum Genet. 2012;12(3):173-179. doi:10.1080/09723757.2012.11885833
      See Also:  BIN1 gene

RECOMMENDED