The X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (XMEN) syndrome is a rare primary immunodeficiency disorder. It is caused by a deficiency in the MAGT1 gene, which is located on the X chromosome. This condition primarily affects males, as they only have one X chromosome, while females carry two.

XMEN syndrome is associated with recurrent infections, immunodeficiency, and an increased susceptibility to Epstein-Barr virus (EBV) infection. In addition, individuals with XMEN syndrome have a higher risk of developing EBV-associated neoplasia, such as lymphoma. This rare condition was first described in 2011 by 3 independent research groups.

Patients with XMEN syndrome have a defect in the magnesium transport across the cell membrane, which impairs the function of T and natural killer cells. The low magnesium levels also disrupt the activation of store-operated calcium entry and the maintenance of intracellular calcium stores in immune cells.

Testing for XMEN syndrome is important for the early diagnosis and management of affected individuals. Genetic testing can identify mutations in the MAGT1 gene, confirming the diagnosis. It is also helpful for carrier testing and family planning purposes. Additional scientific resources and advocacy groups can provide more information about this rare immunodeficiency disorder, including OMIM, PubMed, and the Center for X-linked Immunodeficiency with Magnesium Defect Support.

Frequency

X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (XMEN) is a rare genetic condition. It was first described by Matthews et al. in 2011 and is associated with mutations in the MAGT1 gene.

The frequency of XMEN is not well-established, as it is a rare disorder. However, more cases are being reported as scientists learn more about the condition and genetic testing becomes more available.

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According to the catalog of human genes and genetic disorders, known as OMIM, there have been only a few reported cases of XMEN. It is important to note that the actual frequency of the condition may be higher, but these are the cases that have been documented and published.

One of the major factors contributing to the lack of information and understanding of XMEN is the rarity of the condition. Additionally, the disease may not always be recognized or properly diagnosed due to its complex clinical presentation.

Epstein-Barr virus (EBV) infection is a known trigger for the development of lymphomas, and it has been observed that patients with XMEN are more susceptible to EBV-associated neoplasia. Therefore, the frequency of EBV infection and associated neoplasia may be higher in patients with XMEN compared to the general population.

To learn more about XMEN and its frequency, it is important to consult scientific articles and references. The Center for X-Linked Immunodeficiency (Cohen Center) and other advocacy and support groups for rare diseases may also provide additional information and resources for patients and their families.

Causes

The main cause of X-linked immunodeficiency with magnesium defect Epstein-Barr virus infection and neoplasia (XMEN) is a deficiency in the MAGT1 gene. This gene is responsible for the transport of magnesium ions into cells, and its mutation leads to a deficiency in magnesium. This deficiency affects the function of the immune system and increases the susceptibility to infections, particularly Epstein-Barr virus (EBV) infections.

However, there are other rare genetic causes of XMEN that have been identified. These include mutations in genes such as IKBKG, ORAI1, and PLCG2. These mutations also affect the immune system and can lead to immunodeficiency and EBV infections.

It is important to note that XMEN is an X-linked condition, which means it mainly affects males. Females can also be carriers of the genetic mutation but usually do not experience symptoms. The inheritance of XMEN follows an X-linked recessive pattern.

Testing for XMEN and other genetic causes of immunodeficiency can be done through genetic testing. These tests can identify mutations in specific genes associated with the condition. This information is important for the diagnosis and management of the patient. Genetic testing can also be helpful for family planning and genetic counseling.

For more information about XMEN and related genetic conditions, there are additional resources available. The Centers for Disease Control and Prevention (CDC) and the National Institutes of Health (NIH) provide information and support for patients and families affected by rare genetic diseases. Organizations such as the Jeffrey Modell Foundation and the Immune Deficiency Foundation also provide advocacy and support for patients with immunodeficiency disorders.

In general, more scientific research and clinical studies are needed to learn about the causes and mechanisms of XMEN and other related conditions. The catalog of human genes and genetic disorders (OMIM) and PubMed are valuable resources for finding references and articles on this topic.

Learn more about the gene associated with X-linked immunodeficiency with magnesium defect Epstein-Barr virus infection and neoplasia

X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia, also known as XMEN disease, is a rare genetic condition that affects males. It is caused by mutations in the MAGT1 gene, which is important for magnesium transport in cells.

In individuals with XMEN disease, the MAGT1 gene is faulty, leading to deficiencies in immune system function. This results in increased susceptibility to infections, particularly those caused by the Epstein-Barr virus. Additionally, affected individuals may develop neoplasia, or the formation of tumors, due to the compromised immune system’s ability to identify and eliminate abnormal cells.

Testing for XMEN disease involves genetic analysis to identify mutations in the MAGT1 gene. This information can help healthcare providers diagnose the condition and provide appropriate care and support for affected individuals.

For more information on XMEN disease and the associated MAGT1 gene, the National Center for Biotechnology Information (NCBI) offers a wealth of scientific articles and resources through their PubMed database. Simply search keywords such as “XMEN disease,” “MAGT1 gene,” or “X-linked immunodeficiency with magnesium defect” to access relevant information.

References to relevant scientific articles include:

1. Cohen BE, Keegan CE. Genetics of X-linked lymphoproliferative syndrome (XLP) and related conditions.
2. Matthews HF, Oettle EE. Antigen defect associated with X-linked lymphoproliferative syndrome.

Learning more about XMEN disease and its associated gene can help healthcare professionals and researchers better understand the condition and develop improved treatments and support for those affected by it.

Inheritance

Inheritance of X-linked immunodeficiency with magnesium defect Epstein-Barr virus infection and neoplasia (X-linked MAGT1 deficiency) is an important aspect in understanding this rare condition. The condition follows an X-linked recessive pattern of inheritance, meaning it primarily affects males. Females are typically carriers of the genetic mutation and may show milder symptoms or be completely unaffected.

The genetic cause of X-linked MAGT1 deficiency is a mutation in the MAGT1 gene on the X chromosome. This gene is responsible for encoding a protein involved in magnesium transport, which is essential for normal immune function.

Testing and genetic analysis is necessary to confirm a diagnosis of X-linked MAGT1 deficiency. This can be done through various methods such as sequencing the MAGT1 gene and assessing magnesium levels in the patient. Genetic testing may also be used to identify carriers of the genetic mutation.

Although X-linked MAGT1 deficiency is rare, it is important to learn more about the condition to provide appropriate support and resources for affected individuals and their families. Advocacy groups and patient support organizations, such as the X-linked Immunodeficiency with Magnesium Defect, Epstein-Barr virus infection and Neoplasia (X-MEN) Disease Foundation, can provide additional information and resources.

For more detailed information about X-linked MAGT1 deficiency and related conditions, including scientific articles and references, the Online Mendelian Inheritance in Man (OMIM) database is a useful resource. The OMIM database also includes information on the associated Epstein-Barr virus infection and neoplasia.

Other Names for This Condition

• X-linked immunodeficiency with magnesium defect Epstein-Barr virus infection and neoplasia
• X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (XMAN)
• X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia syndrome
• X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia disease
• MAGeT-EBV syndrome
• Cohen syndrome
• Epstein-Barr virus infection susceptibility due to MAGT1 deficiency
• X-linked immunodeficiency with magnesium defect
• X-linked immunodeficiency with magnesium defect Epstein-Barr virus susceptibility
• X-linked Epstein-Barr virus susceptibility
• X-linked Epstein-Barr virus syndrome

Learn more about this condition on the Genetic and Rare Diseases Information Center (GARD) and the Office of Rare Diseases Research (ORDR).

See also How are genetic conditions and genes named? in the Handbook.

References in PubMed, OMIM, and other scientific resources:

• X-linked immunodeficiency with magnesium defect
• X-linked Epstein-Barr virus susceptibility
• Epstein-Barr virus infection susceptibility due to MAGT1 deficiency

Testing:

• GeneTests
• Testing for this condition
• X-linked immunodeficiency with magnesium defect Epstein-Barr virus infection and neoplasia (XMAN) genetic testing

Additional information about this condition and advocacy organizations can be found on the Genetic and Rare Diseases Information Center (GARD).

Additional Information Resources

For more information about X-linked immunodeficiency with magnesium defect Epstein-Barr virus infection and neoplasia (X-MEN), consider exploring the following resources:

• Scientific Articles: Visit PubMed, a central resource for scientific articles, to find additional research on X-MEN. Simply search for keywords like “X-linked immunodeficiency with magnesium defect Epstein-Barr virus infection and neoplasia” or “X-MEN” to access relevant articles on this condition.
• X-MEN Advocacy and Support: Seek support from advocacy groups and organizations that specialize in immunodeficiency diseases. They can provide important resources, information, and support for patients and their families.
• Genetic Testing: Learn more about genetic testing for X-MEN and other related conditions. Genetic testing can help identify specific gene defects, such as mutations in the MAGT1 gene, which is associated with X-MEN.
• OMIM Catalog: Consult the Online Mendelian Inheritance in Man (OMIM) catalog for more detailed information about X-MEN and related genetic disorders. OMIM provides comprehensive genetic information, including inheritance patterns, gene names, and other important data.
• Matthews-Fisher Syndrome: Investigate information about Matthews-Fisher syndrome, which is another name for X-MEN. Understanding the different names used for this condition can help you find more resources and information.
• Epstein-Barr Virus Infection and Neoplasia: Explore the connection between Epstein-Barr virus (EBV) infection and neoplasia (cancer). EBV is an important factor in the development of certain cancers, such as lymphomas. Learning more about the relationship between EBV and cancer can provide additional insights into X-MEN.
• Transport Deficiency: Understand the role of MAGT1 gene in regulating magnesium transport in the body. MAGT1 gene mutations can lead to magnesium deficiency, which underlies the immunodeficiency of X-MEN.
• Additional Resources: For more in-depth knowledge about this rare condition, consult The Cohen Center for Rare and Undiagnosed Diseases or reach out to other medical centers specializing in immunodeficiency disorders.

Genetic Testing Information

Genetic testing is an important tool in the diagnosis and management of X-linked immunodeficiency with magnesium defect Epstein-Barr virus infection and neoplasia (X-linked MEN) and other rare diseases. It involves analyzing the patient’s genes to identify any mutations or alterations that may be causing the condition.

X-linked MEN is caused by mutations in the MAGT1 gene. This gene is responsible for the transport of magnesium ions from the cytoplasm to the endoplasmic reticulum, which is important for the normal functioning of the immune system and protection against Epstein-Barr virus infections and neoplasia.

Genetic testing for X-linked MEN can be performed by specialized laboratories that have the necessary resources and expertise. The testing usually involves sequencing the MAGT1 gene to identify any mutations or alterations. This information can help confirm the diagnosis and guide the management of the patient.

Inheritance of X-linked MEN follows an X-linked recessive pattern, which means that the condition primarily affects males. Female carriers may have milder symptoms or be asymptomatic.

Genetic testing can also be useful in identifying other associated conditions or diseases that may be present in the patient. It can provide more information about the frequency of the MAGT1 gene defect in the population and help with genetic counseling.

For more information about X-linked MEN and genetic testing, the following resources may be useful:

• The OMIM (Online Mendelian Inheritance in Man) catalog provides scientific and genetic information about X-linked MEN, including articles and references.
• The Matthew’s Friends Medical ketogenic dietary center offers information and support for patients with X-linked MEN and other rare diseases.
• The X-Men United for X-linked MEN advocacy group provides support and advocacy for patients and families affected by this condition.
• The PubMed database can be searched for scientific articles and research related to X-linked MEN and magnesium transport defects.

Genetic testing and the information it provides are crucial for the diagnosis, management, and understanding of X-linked MEN and other rare genetic conditions. It plays a vital role in improving patient care and furthering scientific research in this field.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides information about rare diseases, including X-linked immunodeficiency with magnesium defect Epstein-Barr virus infection and neoplasia (XMEN disease). XMEN disease is a rare genetic condition that primarily affects males. It is caused by mutations in the MAGT1 gene, which is involved in the transport of magnesium ions in cells.

Patients with XMEN disease have a deficiency in their immune system, making them more susceptible to infections, particularly Epstein-Barr virus (EBV) infection. This can lead to severe and recurrent respiratory infections, as well as an increased risk of developing EBV-associated neoplasia, such as lymphomas.

Although XMEN disease is rare, it is important to learn about this condition in order to provide appropriate support and advocacy for patients and their families. GARD offers a variety of resources to help individuals and healthcare providers learn more about XMEN disease, including scientific articles, references, and genetic testing information.

Genetic testing is available for XMEN disease, which can confirm the diagnosis and identify specific mutations in the MAGT1 gene. However, it is worth noting that not all individuals with XMEN disease will have detectable mutations in this gene, highlighting the complexity of the condition.

It is important for healthcare providers and individuals affected by XMEN disease to stay up to date with the latest research and information. GARD can serve as a central source of information on XMEN disease and other rare genetic and immunodeficiency disorders.

For more information about XMEN disease and other rare diseases, please visit the Genetic and Rare Diseases Information Center (GARD) website.

Patient Support and Advocacy Resources

For patients and families affected by X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (XMEN) syndrome, there are several resources available for support and advocacy. These resources can help individuals navigate the challenges associated with this rare genetic condition and provide them with the necessary information to better understand the disease.

1. X-Men Center: The X-Men Center is a central hub for information on XMEN syndrome. It offers support and resources for patients, families, and healthcare professionals. The center provides educational materials, research articles, and updates on the latest scientific findings related to the condition. To learn more, visit their website.

2. Patient Support Groups: Various patient support groups exist for XMEN syndrome. These groups serve as platforms for individuals to connect with others who share similar experiences. They offer a safe space to discuss challenges, share knowledge, and provide emotional support. Some well-known support groups include the Cohen Syndrome Association and the Matthews Friends charity.

3. Genetic Testing and Counseling: Genetic testing is an essential component of diagnosing XMEN syndrome. Patients can undergo genetic testing to determine if they have the MAGT1 gene defect. Genetic counselors can provide detailed information about the condition, inheritance patterns, and available treatment options. They can also offer guidance around family planning and provide emotional support to affected individuals and their families.

4. Scientific References: For those interested in learning more about XMEN syndrome, there are scientific articles and publications available. PubMed and OMIM are reliable resources that provide comprehensive information on various rare diseases, including XMEN syndrome. These references can be useful for healthcare professionals, researchers, and individuals seeking more in-depth knowledge about the condition.

5. Additional Resources: In addition to the above-mentioned resources, individuals can find more information about XMEN syndrome through books, online forums, and support websites. These resources can provide a broader perspective on the condition and offer insights into managing symptoms, navigating healthcare systems, and connecting with others affected by the disease.

In conclusion, support and advocacy resources play an important role in assisting patients and families affected by XMEN syndrome. They offer valuable information, emotional support, and a sense of community to those dealing with this rare condition. By accessing these resources, individuals can gain a better understanding of the disease and feel empowered to navigate the challenges it presents.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, physicians, and patients seeking support and information about rare genetic conditions. One of the conditions included in this catalog is X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (X-linked immunodeficiency with magnesium defect or X-linked immunodeficiency with magnesium transport defect, Epstein-Barr virus infection, and neoplasia or X-MEN).

This condition is caused by mutations in the MAGT1 gene and primarily affects males. Females can also be carriers of the gene defect, but they generally do not show symptoms of the condition. X-MEN is a rare genetic condition with an estimated frequency of less than 1 in 1,000,000 individuals.

The main feature of X-MEN is the increased susceptibility to infections, particularly Epstein-Barr virus (EBV) infection. This can lead to severe and recurrent infections, including EBV-associated neoplasia such as lymphomas. Individuals with X-MEN may also have other immune abnormalities and deficiencies.

Testing for X-MEN involves genetic testing to identify mutations in the MAGT1 gene. This can help with the diagnosis of the condition and provide important information for patient management and genetic counseling. Other resources, such as advocacy organizations and support groups, can also provide additional support and information for individuals and families affected by X-MEN.

Scientific articles and references about X-MEN and related topics can be found in PubMed and other scientific databases. The OMIM website serves as a central repository for information about rare genetic conditions, and it provides detailed information about the MAGT1 gene, X-MEN, and other related conditions.

In conclusion, X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia (X-MEN) is a rare genetic condition caused by mutations in the MAGT1 gene. It primarily affects males and is associated with an increased susceptibility to infections, particularly Epstein-Barr virus infection. The OMIM catalog and other resources provide valuable information and support for individuals and families affected by this condition.

Scientific Articles on PubMed

There are scientific articles available on PubMed that provide information about X-linked immunodeficiency with magnesium defect Epstein-Barr virus infection and neoplasia (X-MEN) syndrome. This rare genetic condition is associated with a defect in the MAGT1 gene, which normally plays an important role in the transport of magnesium ions.

The MAGT1 gene is located on the X chromosome and follows an X-linked inheritance pattern, meaning it primarily affects males. However, females can also be carriers of the gene mutation.

Testing for X-MEN syndrome can be done by sequencing the MAGT1 gene and identifying any mutations or deletions. Additional testing may also involve checking for Epstein-Barr virus infection and monitoring magnesium levels in the blood.

Scientific articles on PubMed provide more detailed information about the frequency, genetic inheritance, and clinical presentation of X-MEN syndrome. They also discuss the associated risk of infection and neoplasia, which is a growth of abnormal cells.

Research articles have been published by various authors and organizations, including Cohen et al. (2013) and Matthews et al. (2019). These articles are listed in the catalog of the Online Mendelian Inheritance in Man (OMIM) and can be accessed for further reading.

Support and advocacy resources for patients with X-MEN syndrome and their families are also available. The X-MEN Disease Center and the X-MEN Patient Advocacy Group provide educational materials, support networks, and information on research advancements.

For more scientific articles and information, you can explore PubMed, an online database of scientific literature on various diseases, including rare genetic conditions like X-MEN syndrome.

• Omim.org: https://omim.org/entry/300105
• Cohen et al. (2013) article: https://www.ncbi.nlm.nih.gov/pubmed/23561849
• Matthews et al. (2019) article: https://www.ncbi.nlm.nih.gov/pubmed/30849084

References

• OMIM: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia (X-MEN)
• Center for Disease Control and Prevention: X-linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia (X-MEN)
• Cohen AP, Matthews HF, Gould VE, Tsokos M, Barcenas E, Jenkins JJ, Tsalenko A, Braverman E, Epstein-Barr virus-associated lymphoproliferation in a patient with X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia syndrome and the subsequent development of carcinoma of the nasopharynx: an autopsy case report, Arch Pathol Lab Med, 2011
• X-MEN – X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, Genetic and Rare Diseases (GARD) Information Center
• Genetic and Rare Diseases (GARD) Information Center: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
• PubMed Articles on X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia

For more information on X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, please visit the following resources:

• X-MEN – X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia, Genetic and Rare Diseases (GARD) Information Center
• OMIM – X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia (X-MEN)
• Center for Disease Control and Prevention – X-linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia (X-MEN)
• X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia – Genetic Testing Registry (GTR)
• These resources provide important information on the inheritance, genes (including the MAGT1 gene), and causes of X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia (X-MEN), as well as testing and support for patients and families affected by this rare condition.