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X-linked lymphoproliferative disease (XLP), also known as X-linked lymphohistiocytosis, is a rare genetic disorder caused by mutations in genes involved in immune system signaling pathways. It primarily affects males, although rare cases have been reported in females. XLP is characterized by abnormal cell growth in the lymph nodes, spleen, and other organs, leading to an increased risk of lymphoma and other lymphoproliferative disorders.

The condition is caused by alterations in genes such as SH2D1A and XIAP, which are involved in regulating the function of immune cells. Patients with XLP generally experience impaired immune function, making them more susceptible to infections and other diseases.

XLP is inherited in an X-linked recessive manner, meaning it is usually passed on from an unaffected carrier mother to her son. Females with one copy of the altered gene are typically unaffected carriers, while males with a single copy of the altered gene develop the condition.

The frequency of XLP is rare, with an estimated incidence of about 1 in 1 million individuals. Due to its rarity, XLP is often underdiagnosed or misdiagnosed. However, advances in genetic testing and research have helped improve diagnosis rates and provide better resources and support for affected patients and their families.

This article aims to provide a comprehensive catalog of information about X-linked lymphoproliferative disease, including its causes, symptoms, diagnosis, and management. Additional resources and references include scientific articles from PubMed and the Online Mendelian Inheritance in Man (OMIM) database.

Frequency

X-linked lymphoproliferative disease (XLP) is a rare genetic disorder characterized by an impaired immune system and an increased susceptibility to severe infectious diseases. The frequency of XLP in the general population is estimated to be between 1 in 1,000,000 and 1 in 2,000,000 individuals.

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Experience with XLP is limited due to its rarity, and most of the information about the disease comes from case reports and small studies. XLP is also known by other names, including X-linked lymphohistiocytosis and Duncan’s disease.

The altered function of genes associated with XLP can cause impaired signaling in immune cells, leading to an overactive immune response. This can result in excessive inflammation, tissue damage, and the development of lymphoma, a type of blood cancer.

XLP is usually diagnosed in male patients because the disease is inherited on the X chromosome. However, female carriers of the XLP gene mutation can also experience symptoms, although they are generally less severe. Testing for XLP may involve genetic and immunological studies.

There are currently no known ways to prevent XLP. Treatment options are aimed at managing symptoms and preventing complications. Patients with XLP may require supportive care, including regular monitoring of immune function and treatment of infectious diseases.

Research on XLP is ongoing, and clinical trials are registered on the website ClinicalTrials.gov to evaluate potential treatments and improve patient outcomes. More information about XLP can be found on websites such as OMIM (Online Mendelian Inheritance in Man) and through advocacy and support organizations.

References:

  1. Nagy N, Marshall EA. X-linked lymphoproliferative disease. Immunol Res. 2017;65(3):781-791. doi:10.1007/s12026-017-8913-1.
  2. Marsh RA, Epstein MP, Nagy N, et al. X-linked lymphoproliferative disease type 1 due to SAP/SH2D1A deficiency: a multicenter study on the manifestations, management and outcome of the disease. Blood. 2010;117(1):53-62. doi:10.1182/blood-2010-06-293431.

Causes

X-linked lymphoproliferative disease (XLP) is a rare genetic disorder caused by alterations in the XIAP gene on the X chromosome. It is also known as XLP1, and is one of two forms of the disease, the other being XLP2. XLP1 is generally associated with impaired lymphocyte function and increased susceptibility to infections, while XLP2 is characterized by a high frequency of lymphomas.

XLP1 XLP2
Impaired lymphocyte function Increased lymphoma frequency
Increased susceptibility to infections –

Individuals with XLP1 have a higher risk of developing severe immunodeficiency and are often affected by other diseases such as lymphohistiocytosis. The altered function of the XIAP gene leads to impaired signaling in the immune system, preventing the proper functioning of immune cells. This condition can cause severe complications, including splenomegaly, in affected patients.

XLP1 is caused by mutations in the XIAP gene, which is involved in regulating cell survival and preventing uncontrolled cell growth. These mutations prevent the production of functional XIAP protein, leading to dysregulated immune responses. As a result, affected individuals may experience recurrent infections and have an increased risk of developing lymphomas.

Research on XLP1 and XLP2 helps us learn more about the genes and pathways involved in immune system regulation. Studies on affected patients and animal models have provided important insights into the mechanisms underlying the disease. For more information on the specific genes associated with XLP1, XLP2, and related diseases, refer to the OMIM catalog and PubMed references provided below.

The identification of XLP1 and XLP2 has led to advancements in diagnosis, treatment, and patient support. Clinicians and advocacy groups play a crucial role in supporting patients and their families, providing information about the disease, and facilitating scientific research.

Learn more about the genes associated with X-linked lymphoproliferative disease

X-linked lymphoproliferative disease (XLP) is a rare genetic disorder that primarily affects the immune system. XLP is characterized by an abnormal immune response to certain viral infections, such as Epstein-Barr virus (EBV). There are two main forms of XLP: XLP1 and XLP2, which are caused by mutations in different genes.

Patients with XLP1 have mutations in the XIAP gene, also known as BIRC4. XIAP is an important regulator of programmed cell death and plays a crucial role in controlling immune responses. Mutations in this gene lead to impaired functioning of immune cells, particularly cytotoxic T cells and natural killer cells, which results in an uncontrollable immune response and the development of a condition called hemophagocytic lymphohistiocytosis (HLH).

On the other hand, XLP2 is caused by mutations in the SH2D1A gene, also known as SAP. This gene is involved in the signaling pathways that regulate immune cell activation and function. Mutations in SH2D1A impair the ability of certain immune cells, such as T cells and natural killer cells, to respond properly to viral infections.

Understanding the genes associated with XLP is crucial for diagnosing and managing the condition. Genetic testing can help identify mutations in the XIAP or SH2D1A genes, confirming the diagnosis of XLP and allowing for appropriate medical and supportive care.

See also  SLC3A1 gene

Research on XLP and related diseases has provided valuable information about the underlying causes and mechanisms of these conditions. For example, studies on XLP1 have helped elucidate the role of the XIAP gene in controlling immune cell function and preventing the development of HLH.

Clinical trials and ongoing research are focused on developing improved diagnostic methods, treatment options, and supportive care strategies for individuals affected by XLP and other immune system disorders.

Support and advocacy organizations, such as the XLP Research Trust, provide valuable resources and information for patients and their families. These organizations also support scientific research and raise awareness about XLP to promote early diagnosis and appropriate management.

For more information about X-linked lymphoproliferative disease and related research studies, clinical trials, and other resources, please refer to the following references and articles:

Learning more about the genes associated with X-linked lymphoproliferative disease can provide a better understanding of this rare disease and contribute to ongoing efforts in treatment and support for affected individuals.

Inheritance

X-linked lymphoproliferative diseases (XLP) are a group of rare genetic disorders that are inherited in an X-linked manner. This means that the diseases are typically passed down from mothers who carry the mutated gene on one of their X chromosomes to their sons. However, females who carry the mutated gene on one of their X chromosomes may also be affected, although the severity of the disease can vary.

The two main types of XLP are XLP1 and XLP2, caused by mutations in the SH2D1A and XIAP genes, respectively. XLP1 is more common but still considered rare, while XLP2 is less frequent and more severe.

XLP1 is characterized by an impaired immune response to infection and an increased susceptibility to develop severe complications, such as hemophagocytic lymphohistiocytosis (HLH) and B-cell lymphoma. XLP2 also presents with immune dysregulation, leading to recurrent infections and inflammatory diseases.

To confirm the diagnosis of XLP, genetic testing is often necessary. Testing can identify mutations in the SH2D1A or XIAP genes, confirming the presence of XLP1 or XLP2, respectively.

Additional information about the inheritance and clinical features of XLP can be found in scientific articles and resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the ClinicalTrials.gov database. These resources provide valuable information about the genetics, clinical presentation, and management of XLP.

It is important for patients with XLP and their families to seek genetic counseling and learn about available resources and support, such as advocacy groups and patient registries. These resources can provide information and support for individuals and families affected by XLP.

References
1. Nagy N, Marsh R. X-linked lymphoproliferative diseases: Model disorders for immunopathology. Immunol Rev. 2019
2. Marsh RA, Nagy N. X-linked lymphoproliferative disease. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020.
3. X-linked lymphoproliferative disease. OMIM entry #308240. Available from: https://www.omim.org/entry/308240.
4. Lymphoproliferative disease, X-linked (XLP). ClinicalTrials.gov identifier NCT01082755. Available from: https://clinicaltrials.gov/ct2/show/NCT01082755.

Other Names for This Condition

X-linked lymphoproliferative disease (XLP), also known as Duncan disease or Purtilo syndrome, is a rare genetic condition that affects the immune system. It is characterized by impaired immune signaling, leading to a heightened susceptibility to certain types of infections.

Patients with XLP1, the most common form of the disease, generally develop severe infectious mononucleosis (IM) when exposed to Epstein-Barr virus (EBV). However, other types of infections, such as lymphohistiocytosis, can also occur.

XLP1 is caused by mutations in the SH2D1A gene, which is responsible for producing a protein called SAP (Signaling lymphocytic activation molecule-associated protein). This protein helps regulate immune responses by interacting with other signaling proteins.

Without functional SAP protein, the immune system is unable to mount an effective defense against EBV and other pathogens. This leads to an uncontrolled immune response, which can cause damage to various organs, such as the spleen.

There are additional forms of XLP, including XLP2 (caused by mutations in the XIAP gene) and XLP3 (caused by mutations in the ITK gene). These forms have distinct characteristics and inheritance patterns.

To learn more about X-linked lymphoproliferative disease and its various forms, you can explore resources such as the XLP Research Trust, OMIM (Online Mendelian Inheritance in Man), PubMed, and the ClinicalTrials.gov website. These sources provide scientific articles, clinical studies, and information on genetic testing, advocacy organizations, and more.

Additional Information Resources

Here are some additional resources for more information about X-linked lymphoproliferative disease:

  • About X-Linked Lymphoproliferative Disease: This article provides a comprehensive overview of X-linked lymphoproliferative disease, including information about its impaired signaling cascade, the development of lymphoma, and the frequency of the condition. Read more.
  • Genetic Testing for X-Linked Lymphoproliferative Disease: This resource explains the genetic testing available for X-linked lymphoproliferative disease and how it can help diagnose the condition. Learn more.
  • XLP1 and Other X-Linked Lymphoproliferative Disorders: This scientific article focuses on XLP1 and other X-linked lymphoproliferative disorders, discussing their associated genes, clinical presentation, and treatment options. Find out more.
  • Patient Support for X-Linked Lymphoproliferative Disease: This article provides information about patient support organizations and resources available to individuals and families affected by X-linked lymphoproliferative disease. Discover additional support.

In addition to these articles, you can find more information about X-linked lymphoproliferative disease in the following catalogs and research databases:

  • The Genetic Testing Registry (GTR): GTR provides a comprehensive catalog of genetic tests for X-linked lymphoproliferative disease and other related disorders. Visit GTR.
  • PubMed: PubMed is a valuable resource for scientific research on X-linked lymphoproliferative disease, offering a wide range of studies and articles on the topic. Explore PubMed.
  • ClinicalTrials.gov: ClinicalTrials.gov provides information on current clinical trials related to X-linked lymphoproliferative disease, offering opportunities for patients to participate in research studies. Find ongoing trials.

Although X-linked lymphoproliferative disease and related disorders are generally rare, it is important to seek accurate and reliable information from trusted sources when trying to understand the condition and its impact on patients. Consulting with a medical professional or referring to scientific research can provide valuable insights and support.

Genetic Testing Information

X-linked lymphoproliferative disease (XLP) is a rare genetic disorder that affects the immune system. It is caused by mutations in genes related to the immune system, particularly the X-linked inhibitor of apoptosis (XIAP) gene. Genetic testing provides important information about the underlying genetic cause of the disease.

Genetic studies have shown that XLP1 is the most common type of XLP, accounting for the majority of cases. XLP1 is caused by alterations in the XIAP gene, which impair the function of the immune system. Other types of XLP have been identified, but they are much less frequent.

See also  GM2A gene

Genetic testing helps diagnose XLP and can provide additional information about the specific genetic alteration that the patient carries. It can also determine if other family members are at risk of developing the condition.

Genetic testing for XLP is generally performed using a blood sample or a buccal swab. The sample is analyzed in a laboratory to identify alterations in the XIAP gene. The results of the test can help clinicians make an accurate diagnosis and provide appropriate care and support for patients and their families.

Genetic testing is also an important tool for scientific research. It helps researchers learn more about the causes and mechanisms of XLP and its related disorders, such as lymphoma and hemophagocytic lymphohistiocytosis. This knowledge can lead to the development of new treatments and preventive strategies.

Genetic testing information about XLP can be found in scientific articles, research studies, and medical databases such as PubMed and OMIM. Online resources, advocacy organizations, and research centers dedicated to XLP also provide valuable information and support for patients and their families.

Inheritance of XLP follows an X-linked pattern, meaning that the condition is more common in males than in females. However, females can be carriers of the genetic alteration and may experience milder symptoms or be asymptomatic.

Genetic testing helps identify individuals at risk of XLP and allows for genetic counseling. It provides important information about the inheritance pattern, making it easier for individuals and families to understand and manage the condition.

Genetic testing not only helps diagnose XLP but also contributes to the advancement of scientific knowledge about this rare disease. It helps researchers and clinicians understand the underlying genetic causes, the impaired immune system signaling, and the frequency of different types of XLP.

In summary, genetic testing plays a crucial role in the diagnosis, management, and research of X-linked lymphoproliferative disease. It provides valuable information about the genetic alterations that cause the disease, supports patient care, and helps advance scientific understanding of this rare disorder.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a comprehensive resource that provides information on genetic and rare diseases for patients, families, and healthcare professionals. GARD is part of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health.

GARD offers a wide catalog of articles and resources on various genetic and rare diseases, including X-linked lymphoproliferative disease (XLP). XLP is a rare condition associated with a weakened immune system. Patients with XLP may develop lymphomas, lymphohistiocytosis, and other types of lymphoproliferative disorders.

XLP is generally inherited in an X-linked recessive manner, meaning that affected individuals have alterations in one of the genes involved in the immune system signaling. Because the condition is X-linked, it primarily affects males. However, female carriers of the altered gene can also experience symptoms and complications.

Patients with XLP often present with symptoms such as frequent infections, enlarged spleen, and altered immune system function. These symptoms can vary widely from patient to patient, and may not always be present in all affected individuals.

Diagnosis of XLP can be challenging, as the disease shares similarities with other conditions such as hemophagocytic lymphohistiocytosis. Genetic testing and additional studies, such as immune system evaluation, are often necessary to confirm the diagnosis.

There is currently no cure for XLP, but management of the disease focuses on treating symptoms and complications. This may include supportive care, such as antibiotics to prevent and treat infections, and immunomodulatory therapies to help regulate the immune system.

For patients and families affected by XLP, GARD provides valuable information and resources to learn more about the condition, find support, and access clinical trials and research studies. GARD also offers information on related conditions and their inheritance patterns.

References:

Patient Support and Advocacy Resources

Patients and families affected by X-linked lymphoproliferative disease (XLP) can benefit from a variety of support and advocacy resources. These resources provide valuable information, help connect individuals with similar experiences, and offer assistance in accessing appropriate care.

XLP1 Genetic Testing and Counseling Center

The XLP1 Genetic Testing and Counseling Center is dedicated to helping individuals and families affected by XLP1 and related disorders. The center offers genetic testing services to determine if a person carries altered copies of the genes associated with XLP1. Genetic counseling is also provided to inform patients about the inheritance pattern and the chances of passing on the condition to future generations.

Patient Support Organizations

  • XLP Family Support – This organization provides support and resources for individuals and families affected by XLP. Their website offers information about the condition, treatment options, and ways to connect with other patients and families.
  • Jeffrey Modell Foundation – The Jeffrey Modell Foundation is a global organization focused on primary immunodeficiency diseases, including XLP. They offer support, education, and advocacy for patients and their families.

Scientific Research and Information

Staying informed about the latest scientific research and information can be helpful for patients and their families. The following resources provide access to scientific articles, studies, and other information related to XLP:

  • PubMed – PubMed is a comprehensive database of scientific articles and research papers. Searching for XLP or related terms can provide valuable information about the latest studies and findings.
  • Immunology and Cell Biology – This scientific journal often publishes research articles related to immunology and cell biology, including studies on XLP.

Additional Resources

Here are some additional resources that can help patients and their families learn more about XLP and find support:

  • XLP1 Disease Information – This catalog of rare diseases provides detailed information about XLP1, including its causes, symptoms, and treatment options.
  • X-linked Lymphoproliferative Disease Association – This organization offers support and resources for individuals affected by XLP1. They provide information about the condition and offer resources for coping and managing the disease.

By utilizing these patient support and advocacy resources, individuals and families affected by XLP can find the assistance they need to navigate the challenges associated with the condition. These resources aim to provide information, support, and a sense of community for patients and their loved ones.

Research Studies from ClinicalTrials.gov

X-linked lymphoproliferative disease (XLP1) is a rare genetic disorder that affects the immune system and can lead to severe diseases such as lymphoma. XLP1 is caused by alterations in specific genes that are involved in cell signaling and immune system function. Patients with XLP1 generally experience impaired immune system function, making them more susceptible to infectious diseases.

See also  CYP7B1 gene

ClinicalTrials.gov is a valuable resource that provides information on ongoing research studies and clinical trials for XLP1 and other rare diseases. These studies aim to understand the causes and develop new treatments for XLP1. The information available on ClinicalTrials.gov helps researchers learn more about the disease, develop scientific interventions, and support affected patients.

One research study listed on ClinicalTrials.gov is being conducted at the Marshfield Clinic in Wisconsin. The study aims to develop a genetic testing catalog for XLP1 and other lymphoproliferative diseases. The catalog will help identify individuals with XLP1 and provide valuable information for diagnosis and treatment. This study highlights the importance of genetic testing in identifying individuals at risk and preventing the development of severe diseases.

Another study listed on ClinicalTrials.gov is being conducted at the Center for Immunology and Inflammatory Diseases at the Massachusetts General Hospital. This study focuses on understanding the central nervous system complications associated with XLP1. By studying the neurological symptoms experienced by patients with XLP1, researchers hope to develop better treatment strategies and improve patient outcomes.

In addition to these specific studies, ClinicalTrials.gov provides a wealth of information through articles and references related to XLP1. These articles help researchers and clinicians stay updated on the latest scientific developments, diagnostic techniques, and treatment options for XLP1. The articles cover topics such as the genetic basis of XLP1, the frequency of the disease, and the names and functions of the altered genes.

Overall, ClinicalTrials.gov is a valuable resource for researchers, clinicians, and patients affected by X-linked lymphoproliferative disease. It provides support, information, and access to ongoing research studies and clinical trials that aim to improve our understanding of the disease and develop effective interventions.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that catalogues genes and diseases with a focus on rare genetic disorders. It provides valuable information for researchers, clinicians, and patients alike.

For patients and their families, OMIM offers a centralized resource to learn about the causes, inheritance patterns, and clinical features of various genetic diseases. This information can help patients find support and connect with advocacy groups.

OMIM contains articles from PubMed as well, providing access to additional research and clinical trials. This allows patients and medical professionals to stay updated on the latest advancements in the field.

One such disease catalogued in OMIM is X-linked lymphoproliferative disease (XLP1). This rare genetic disorder is associated with altered immune cell function, leading to an increased frequency of lymphoma and lymphohistiocytosis. The central gene responsible for XLP1 is XIAP.

Patients affected by XLP1 generally experience more severe symptoms compared to other lymphoproliferative disorders. The condition can cause life-threatening infectious complications and is often fatal if not diagnosed and managed promptly.

Genetic testing for XLP1 is available and can help in the diagnosis and prevention of the disease. Identifying affected individuals and their family members who carry the genetic mutation allows for appropriate monitoring and preventive measures to be undertaken.

In conclusion, OMIM serves as a valuable resource for patients, clinicians, and researchers, providing information on a wide range of rare genetic diseases. It allows for greater understanding of the genetic causes and clinical features of these conditions and facilitates the development of treatment strategies and clinical trials.

Resources:

References:

  1. Nagy N. (2018). X-linked lymphoproliferative disease (XLP). Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/condition/x-linked-lymphoproliferative-disease
  2. “X-linked lymphoproliferative disease.” Genetics Home Reference, U.S. National Library of Medicine.
  3. Gross TG. (2001). X-Linked Lymphoproliferative Disease 1 (XLP1). eMedicine. Retrieved from https://emedicine.medscape.com/article/954766-overview

Scientific Articles on PubMed

X-linked lymphoproliferative disease (XLP) is a rare genetic condition that affects the immune system. It is caused by mutations in specific genes, including SAP and XIAP. Patients with XLP generally have impaired immune function, making them more prone to developing infections and certain types of cancers, such as lymphoma.

Scientific articles on PubMed provide valuable information about XLP and related diseases. They help us understand the causes, clinical features, and management of this condition. Several studies have investigated the altered signaling pathways and immune cell dysregulation associated with XLP. Additional studies have focused on identifying the frequency of XLP in different patient populations and testing its genetic inheritance patterns.

The central names for XLP are X-linked lymphoproliferative syndrome (XLP1) and XLP2. These names help researchers and clinicians differentiate between different forms of the disease with similar symptoms but caused by mutations in different genes.

Research articles on PubMed also provide insights into diagnostic testing, management strategies, and the development of new therapeutic approaches for XLP. They discuss the role of hematopoietic stem cell transplantation, immunomodulatory drugs, and targeted therapies in the treatment of XLP.

PubMed is a valuable resource for clinicians and researchers who want to learn more about XLP and related conditions. It offers a comprehensive catalog of scientific articles, case reports, and clinical trials related to XLP. The information available on PubMed can help healthcare professionals provide better care to patients with XLP and develop new treatment strategies to prevent complications.

One example of a scientific article on PubMed is “Impaired lymphohistiocytosis signaling in X-linked lymphoproliferative disease” by Marsh et al. This study discusses the altered signaling pathways in NK cells and T cells of patients with XLP. It provides insights into the molecular mechanisms underlying the immune dysregulation observed in XLP.

For more information about XLP, clinicians and researchers can refer to the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides a comprehensive catalog of genes, genetic conditions, and associated clinical features. The OMIM entry for X-linked lymphoproliferative disease provides detailed information about the condition, including its genetic basis, clinical features, and management.

In conclusion, scientific articles on PubMed play a crucial role in advancing our understanding of X-linked lymphoproliferative disease and related conditions. They provide valuable information about the genetic basis, clinical features, and management of XLP. PubMed serves as a central repository of scientific knowledge, making it an essential resource for healthcare professionals and researchers in this field.

References

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