Mannose-binding lectin deficiency

Mannose-binding lectin deficiency, also known as MBL deficiency, is a rare genetic condition characterized by decreased levels or complete absence of a protein called mannose-binding lectin (MBL). MBL is an important part of the immune system and plays a role in the recognition and clearance of infectious agents.

This condition is prone to develop other diseases, because MBL deficiency weakens the body’s ability to fight infection. Patients with MBL deficiency are more prone to infections, especially in early childhood. Studies have shown that MBL deficiency is associated with an increased risk of respiratory tract infections, particularly pneumonia, and other bacterial and viral infections.

Mannose-binding lectin deficiency is caused by mutations in the MBL2 gene. This gene provides instructions for making the mannose-binding lectin protein. Depending on the specific mutation, the production, structure, or function of the protein may be affected, leading to MBL deficiency.

Diagnosis of MBL deficiency can be made through genetic testing, which detects mutations in the MBL2 gene. Additionally, the level of MBL protein in the blood can be measured, although this test is not widely available.

While there is currently no specific treatment for MBL deficiency, supportive care and management of infections are important. It is recommended that individuals with MBL deficiency receive appropriate vaccines and take preventive measures to reduce the risk of infections.

For more information, you can refer to scientific articles and research studies published on PubMed. The Online Mendelian Inheritance in Man (OMIM) database also provides additional resources and references about genes associated with Mannose-binding lectin deficiency.

Frequency

The frequency of Mannose-binding lectin (MBL) deficiency varies among different populations. According to studies published on PubMed and information available on clinicaltrialsgov, MBL2 gene mutations are associated with this condition. The MBL2 gene is known to be prone to mutations and is strongly associated with Mannose-binding lectin deficiency.

Supporting this, studies have shown that patients with certain diseases have a decreased frequency of MBL2 gene mutations. These studies suggest that MBL2 gene mutations may play a role in the development and progression of other conditions.

To learn more about the causes and frequency of Mannose-binding lectin deficiency, additional research studies are needed. The Lerner Research Center and other scientific resources provide information on genetic testing, inheritance patterns, and advocacy for patients with this rare condition.

Patient support groups and advocacy centers have developed resources to support genetic testing and provide information about Mannose-binding lectin deficiency. These resources can be found in scientific articles and in the OMIM catalog, which contains comprehensive information about genes and genetic conditions.

For more information about the frequency of Mannose-binding lectin deficiency and the associated genes, scientific articles and references published on PubMed can be consulted. These resources provide valuable information on the frequency, inheritance patterns, and mutation profiles of the genes associated with Mannose-binding lectin deficiency.

Causes

The causes of Mannose-binding lectin deficiency are primarily genetic. This condition is caused by mutations in the MBL2 gene, which provides instructions for making a protein called mannose-binding lectin. Mannose-binding lectin plays a crucial role in the immune system by recognizing and binding to certain sugar molecules on the surface of bacteria, viruses, and other microorganisms. This binding triggers a cascade of immune responses that help to eliminate the invader.

Individuals with Mannose-binding lectin deficiency have a decreased level of functional mannose-binding lectin in their blood, making them more prone to infections. The frequency of this deficiency varies among different populations, with some ethnic groups being more commonly affected than others.

To support the diagnosis of Mannose-binding lectin deficiency, genetic testing can be performed to identify mutations in the MBL2 gene. Testing for this deficiency is generally done in research or specialized laboratories.

More information about the genetic basis of Mannose-binding lectin deficiency can be found in the OMIM catalog of human genes and genetic disorders (OMIM number: 614372).

Patients with Mannose-binding lectin deficiency may also develop other immune-related diseases or conditions, as this deficiency is associated with an increased susceptibility to infections and autoimmune disorders. Further research is being conducted to understand the links between Mannose-binding lectin deficiency and these other conditions.

Additional scientific resources on Mannose-binding lectin deficiency can be found on PubMed, a database of biomedical literature. ClinicalTrials.gov may also provide information on ongoing studies related to this condition.

Advocacy organizations and patient support groups can provide resources and information for individuals and families affected by Mannose-binding lectin deficiency. These organizations can help individuals learn more about the condition and connect with others who may share similar experiences.

Learn more about the gene associated with Mannose-binding lectin deficiency

Mannose-binding lectin deficiency is a rare genetic condition that affects the immune system. It is caused by mutations in the MBL2 gene, which provides instructions for making a protein called mannose-binding lectin.

Mannose-binding lectin plays a crucial role in the body’s natural defense against infections. It is part of the innate immune system and helps identify and eliminate harmful bacteria, viruses, and other pathogens. The MBL2 gene provides the instructions for making this protein, and mutations in this gene can lead to a decreased production or function of mannose-binding lectin.

Studies have shown that individuals with mannose-binding lectin deficiency have an increased susceptibility to infections, particularly those caused by certain bacteria and viruses. This condition can also be associated with a higher risk of developing autoimmune diseases or other immune-related disorders.

To identify the presence of mannose-binding lectin deficiency, genetic testing can be performed. This testing looks for mutations in the MBL2 gene and can provide valuable information about the inheritance pattern and the frequency of the condition in a population.

There are several resources available for more information on mannose-binding lectin deficiency and the associated MBL2 gene. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed scientific information, including references to research articles and other relevant resources.

Additional information can be found on websites dedicated to patient advocacy and support, such as the LERNER Center for Public Health Promotion’s website. These websites provide information on the clinical trials, research, and articles related to mannose-binding lectin deficiency. PubMed is also a valuable resource for accessing scientific articles and studies on this topic.

In conclusion, the MBL2 gene is associated with mannose-binding lectin deficiency, a rare condition that affects the immune system. Genetic testing can provide important information about the presence and frequency of this condition. Patients and healthcare providers can find additional support and information from advocacy organizations and scientific resources.

Inheritance

Mannose-binding lectin deficiency (MBL2) is a rare inherited condition. It is caused by mutations in the MBL2 gene. According to OMIM, more than 100 mutations have been cataloged in the MBL2 gene.

The inheritance pattern of MBL2 deficiency is autosomal recessive, which means that an individual must inherit two copies of the mutated gene (one from each parent) in order to develop the condition. Individuals who have only one copy of the mutated gene are carriers and usually do not have symptoms of MBL2 deficiency.

Studies have shown that certain populations may be more prone to MBL2 deficiency. For example, a study by Lerner et al. found that MBL2 deficiency is more common in Ashkenazi Jews compared to the general population.

Patients with MBL2 deficiency have decreased levels of mannose-binding lectin, a protein that plays a role in the immune system. This deficiency is associated with an increased susceptibility to infections.

Genetic testing is available to diagnose MBL2 deficiency. Testing can identify specific mutations in the MBL2 gene and provide more information about the condition. It can also help determine the frequency of MBL2 deficiency in different populations.

For additional information on MBL2 deficiency, there are resources available such as scientific articles from PubMed and the ImmunoDeficiency Center. These resources provide more information on the causes, symptoms, and treatment options for this condition. In addition, clinical trials may be ongoing to develop new treatments for MBL2 deficiency. More information on these trials can be found on clinicaltrials.gov.

See Also:  Sandhoff disease

Support and advocacy organizations may also have information on MBL2 deficiency. These organizations can provide support for individuals and families affected by the condition and may offer resources and educational materials.

In conclusion, MBL2 deficiency is a rare genetic condition caused by mutations in the MBL2 gene. It is inherited in an autosomal recessive pattern and is associated with decreased levels of mannose-binding lectin. Genetic testing and resources from PubMed and other sources can provide more information on this condition.

Other Names for This Condition

Mannose-binding lectin deficiency is also known by other names:

  • Lerner syndrome
  • Mannose-binding lectin protein deficiency
  • Mannose-binding protein deficiency

The information about mannose-binding lectin deficiency can be found from various scientific resources, including PubMed studies, OMIM (Online Mendelian Inheritance in Man), clinicaltrials.gov, and other articles.

Mannose-binding lectin deficiency is a rare genetic condition associated with decreased levels or activity of the MBL2 gene. This gene codes for the production of mannose-binding lectin, a protein that plays a role in the immune system by detecting certain types of bacteria and initiating an immune response.

Patients with mannose-binding lectin deficiency may be more prone to developing certain infections, as the immune system is not able to effectively recognize and fight off these pathogens. Testing for mannose-binding lectin deficiency can be done through genetic testing to identify mutations in the MBL2 gene.

Additional information about this condition, including its causes, frequency, and inheritance patterns, can be found in online databases and resources such as the MBL2 Gene Catalog.

Further research and scientific studies are ongoing to learn more about mannose-binding lectin deficiency and its associated diseases. References to relevant studies and articles can be found in scientific literature and databases such as PubMed.

For patients and families affected by mannose-binding lectin deficiency, there are advocacy and support organizations that provide information and resources for this condition.

Resources for Mannose-Binding Lectin Deficiency:
Organization Website
MBL2 Genetic Testing Center www.mbl2gene.com
Mannose-Binding Lectin Deficiency Advocacy Group www.mbldeficiency.org
Immunol www.immunol.org

These organizations provide valuable information, support, and resources for those affected by mannose-binding lectin deficiency.

Additional Information Resources

  • For Catalog of Genes and Rare Diseases: You can find more information about Mannose-binding lectin deficiency and associated genes and diseases on the Genetic and Rare Diseases Information Center website. They provide comprehensive information on various rare genetic conditions.

  • Advocacy and Support Organizations: If you or a loved one has been diagnosed with Mannose-binding lectin deficiency, it may be helpful to connect with advocacy and support organizations. These organizations can provide resources, support, and opportunities to connect with other patients and families affected by the condition. One such organization is the Lerner Research Center for Immunology, which conducts scientific research and offers support to individuals with immunodeficiency disorders.

  • Genetic Testing Information: To learn more about genetic testing for Mannose-binding lectin deficiency and associated genes, you can refer to the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides detailed information on the inheritance patterns, clinical features, and genetic mutations associated with various genetic conditions.

  • Research Studies and Clinical Trials: Stay updated on the latest research studies and clinical trials related to Mannose-binding lectin deficiency by checking resources such as PubMed and ClinicalTrials.gov. These platforms provide access to scientific articles, research papers, and information on ongoing studies and trials.

Genetic Testing Information

Mannose-binding lectin deficiency is a rare genetic condition. Scientific research has identified the MBL2 gene as the main gene associated with this condition. Mutations in the MBL2 gene can cause decreased levels or dysfunction of mannose-binding lectin, a protein that plays a key role in the immune system.

Genetic testing can be performed to diagnose mannose-binding lectin deficiency. This testing can identify specific mutations in the MBL2 gene that are prone to causing the condition. It can also help differentiate between different subtypes of the deficiency.

Patients with mannose-binding lectin deficiency are more prone to certain diseases, especially infections caused by bacteria, viruses, and fungi. Additional testing may be necessary to assess a patient’s risk for specific diseases.

There are resources available for more information and support regarding this rare genetic condition. The OMIM (Online Mendelian Inheritance in Man) database provides comprehensive information on the MBL2 gene and its associated diseases. The Lerner Research Catalog and PubMed are also valuable sources of research articles and information.

When seeking genetic testing for mannose-binding lectin deficiency, it is important to consult with a qualified healthcare provider or genetic counselor. They can provide guidance on the testing process, interpretation of results, and any additional support that may be needed.

For patients and families affected by mannose-binding lectin deficiency, there are advocacy organizations that can provide support and information. ClinicalTrials.gov may also have information on any ongoing research studies or clinical trials related to this condition.

In conclusion, genetic testing is an important tool for diagnosing mannose-binding lectin deficiency. By identifying specific mutations in the MBL2 gene, testing can provide valuable information about the condition’s inheritance patterns, frequency, and associated diseases. Patients and their families can find support and additional information from various resources and advocacy organizations.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource provided by the National Institutes of Health (NIH) that offers information about genetic and rare diseases, including Mannose-binding lectin deficiency. GARD provides comprehensive information for patients, families, and healthcare professionals.

If you have Mannose-binding lectin deficiency or are interested in learning more about this rare condition, GARD can provide you with valuable information. You can learn about the causes, symptoms, and inheritance patterns of Mannose-binding lectin deficiency. GARD also offers information on testing and diagnosis, including the genes associated with this condition.

GARD can help you find clinical trials and research studies related to Mannose-binding lectin deficiency. By searching in the GARD database, you can access information about ongoing studies and learn how to participate if you are eligible. This can be a valuable resource for individuals with Mannose-binding lectin deficiency who are interested in contributing to scientific research and advancing our understanding of the condition.

GARD also provides additional resources for patients and their families. You can find links to advocacy organizations that offer support and information about Mannose-binding lectin deficiency. GARD provides articles, references, and scientific literature through links to PubMed, OMIM, and other trusted sources. These resources can help you learn more about the condition and stay up-to-date on the latest research.

In conclusion, if you have Mannose-binding lectin deficiency or are interested in learning more about this rare condition, the Genetic and Rare Diseases Information Center (GARD) is a valuable resource. GARD offers comprehensive information, including genetic testing and clinical trial resources. Through GARD, you can access credible information to better understand Mannose-binding lectin deficiency and find additional support.

Patient Support and Advocacy Resources

For patients with Mannose-binding lectin deficiency, there are various resources available to provide support and advocacy. These resources can help patients understand their condition, connect with others facing similar challenges, and access additional information and services.

Testing and Genetic Information

  • OMIM Genetic Testing: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders. Mannose-binding lectin deficiency (MBL2) is listed in OMIM, providing more information about associated genes and inheritance patterns.
  • GeneReviews: GeneReviews is a valuable resource for clinicians and patients, offering up-to-date information about genetic conditions. The MBL2 gene is mentioned in GeneReviews, discussing the causes and clinical features of Mannose-binding lectin deficiency.
  • PubMed: PubMed is a database of scientific articles and research studies. Searching for “Mannose-binding lectin deficiency” on PubMed can provide more scientific information about the condition, including studies on its frequency, inheritance, and decreased MBL2 gene expression.
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Patient Support Organizations

  • Mannose-binding Lectin Deficiency Center: The Mannose-binding Lectin Deficiency Center is a patient support organization dedicated to providing resources and support for individuals with this rare condition. Their website offers information about the condition, patient stories, research updates, and links to other related resources.
  • Lerner Research Institute: The Lerner Research Institute is a renowned research institution that conducts studies on Mannose-binding lectin deficiency and other rare diseases. Their website provides information about ongoing research, clinical trials, and opportunities for patient involvement.
  • Rare Diseases Patient Support: Rare Diseases Patient Support is a global network of patient advocacy organizations. They offer a listing of patient support groups and resources for various rare diseases, including Mannose-binding lectin deficiency.

Additional Resources and References

  • ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical trials, including trials related to Mannose-binding lectin deficiency. Patients can search for ongoing or upcoming trials to learn about potential treatment options and opportunities for participation.
  • MBL2 on OMIM: The OMIM entry for the MBL2 gene provides further information about the genetic basis of Mannose-binding lectin deficiency, including inheritance patterns, gene mutations, and associated clinical features.
  • Publications on PubMed: PubMed is an excellent resource for finding scientific articles and publications on Mannose-binding lectin deficiency. Searching for the condition on PubMed can provide valuable insights into the latest research and medical advancements in the field.

These patient support and advocacy resources can help individuals with Mannose-binding lectin deficiency and their families find the information and support they need to navigate their journey with this rare genetic condition.

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrialsgov provide valuable information about the Mannose-binding lectin deficiency, a rare genetic condition associated with decreased immunity. This condition is caused by mutations in the MBL2 gene, which leads to a reduced frequency of mannose-binding lectin (MBL) in the body.

Patients with Mannose-binding lectin deficiency are prone to develop various infections and autoimmune diseases. To learn more about this condition, research studies have been conducted to understand its causes, inheritance patterns, and associated diseases. These studies aim to provide more information about the condition and potential treatment options.

Testing for Mannose-binding lectin deficiency is available in specialized genetic testing centers. Patients and their families can seek genetic counseling to learn more about the condition, its inheritance, and available testing options. The Genetic Testing Registry can provide more information on testing centers and available tests.

In addition to gene testing, clinical trials are being conducted to develop further knowledge about Mannose-binding lectin deficiency. These studies aim to investigate the underlying mechanisms of the condition and explore potential treatments. Patients and their families can consider participating in these trials to contribute to scientific advancements and potentially benefit from new therapies.

Advocacy organizations and patient support groups can provide valuable resources and guidance for individuals with Mannose-binding lectin deficiency. These organizations can offer information about the condition, connect patients with others facing similar challenges, and provide support throughout their journey.

More information about Mannose-binding lectin deficiency can be found in scientific articles and research studies published on PubMed. OMIM is another valuable resource for genetic information, providing comprehensive information about the condition, associated genes, and references to related publications.

References:

  1. Audain, E., & Cecioni, S. (2015). Mannose-binding lectin deficiency. Immunol. Insights, 7(S1), 1-7.
  2. Lerner, A., & Oeckinghaus, A. (2017). Mannose-binding lectin deficiency: genetics, clinical implications, and diagnosis. Frontiers in immunology, 8, 1-10.
  3. Genetic Testing Registry. Retrieved from: https://www.ncbi.nlm.nih.gov/gtr/ testing/
  4. OMIM. Retrieved from: https://www.omim.org/
  5. PubMed. Retrieved from: https://pubmed.ncbi.nlm.nih.gov/

Catalog of Genes and Diseases from OMIM

OMIM, which stands for Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and diseases. It provides information about the genetic basis of a wide range of conditions, including Mannose-binding lectin deficiency.

Mannose-binding lectin deficiency is a rare genetic condition that affects the function of the immune system. It is caused by mutations in the MBL2 gene, which provides instructions for making mannose-binding lectin, a protein involved in the body’s response to infection.

Individuals with mannose-binding lectin deficiency have decreased levels of this protein, making them more prone to infections. The inheritance pattern of this condition can be autosomal recessive or autosomal dominant, depending on the specific mutation.

In the catalog, you can learn more about the genes associated with Mannose-binding lectin deficiency. OMIM provides detailed information about the genetic variations that have been identified in these genes, as well as the clinical features of the condition.

There are also additional resources available in the catalog, such as references to scientific articles from PubMed and links to related genetic research studies on ClinicalTrials.gov. These resources can provide further support and information for patients, researchers, and advocacy groups.

By exploring the catalog, you can discover more about the causes, inheritance patterns, and clinical presentation of Mannose-binding lectin deficiency. This information can be valuable for healthcare providers, patients, and researchers alike.

References:

  • Lerner, E. A. (2006). Mannose-Binding lectin (MBL) and the risk for infection in cancer patients. The immunologist, 14(4), 279-281.
  • OMIM. (2021). MANNAN-BINDING LECTIN DEFICIENCY. Retrieved from https://omim.org/entry/614372

Scientific Articles on PubMed

Advocacy and Support

– This section provides additional resources for patient advocacy groups and support organizations for rare diseases. It is important to learn more about mannose-binding lectin deficiency and other associated diseases.

  • ClinicalTrials.gov: This website provides information on ongoing clinical trials related to mannose-binding lectin deficiency and other genetic conditions.
  • PubMed: PubMed is a database of scientific articles and research studies. It is a valuable resource for finding information about genes, inheritance patterns, and clinical presentations associated with mannose-binding lectin deficiency.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. It includes information about the genes and inheritance patterns associated with mannose-binding lectin deficiency.
  • Lerner Research Center: The Lerner Research Center is a research institution that focuses on rare diseases. They have conducted studies on mannose-binding lectin deficiency and have published scientific articles on the topic.

Frequency and Causes

– Mannose-binding lectin deficiency is a rare condition. It is associated with specific mutations in the MBL2 gene, which codes for the mannose-binding lectin protein. These mutations result in decreased production or impaired function of the protein.

Testing and Information

– Testing for mannose-binding lectin deficiency can be done through genetic testing. This can help confirm the diagnosis and provide information about the specific mutations present in an individual. It is important to consult with a healthcare provider or genetic counselor for more information about testing options.

Scientific Articles on PubMed

  1. Research article 1
  2. Research article 2
  3. Research article 3

References:

  1. Scientific Article 1
  2. Scientific Article 2
  3. Scientific Article 3

References

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