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The MyD88 gene is a significant gene that plays a crucial role in the immune system. It encodes for a protein called MyD88 (Myeloid differentiation primary response 88), which is involved in initiating immune responses. MyD88 belongs to the Toll/interleukin-1 receptor (TIR) domain family of proteins, which are crucial for signaling pathways in the immune system.

The MyD88 gene has been extensively studied and is well-documented in various scientific databases such as PubMed, OMIM, and the Genetic Testing Registry. Mutations or changes in this gene have been found to be associated with a range of conditions and disorders, including certain cancers, autoimmune diseases, and immunodeficiency disorders. The significance of MyD88 mutations and their impact on clinical presentations and disease outcomes are subjects of ongoing research.

One of the most well-known conditions associated with MyD88 gene mutations is Waldenström macroglobulinemia, a type of B-cell lymphoproliferative disorder. In some cases, MyD88 mutations are present in over 90% of patients with this condition, highlighting the importance of this gene in the development of certain cancers. Outside of cancer, MyD88 deficiency has been described in the context of other diseases, further emphasizing its role in maintaining immune health.

Various studies have investigated the role of MyD88 gene variants in different diseases and disorders. These studies have shed light on the impact of MyD88 mutations on immune responses and the development of certain conditions. Understanding the genetic changes and regulatory mechanisms associated with the MyD88 gene can provide valuable insights into the underlying mechanisms of diseases and potentially lead to the development of targeted therapies and treatments.

In conclusion, the MyD88 gene is a crucial gene involved in immune responses and plays a significant role in the development of various diseases and disorders. Its association with conditions such as Waldenström macroglobulinemia and autoimmune disorders underscores its importance in maintaining a healthy immune system. Ongoing research and scientific resources continue to provide valuable information about MyD88 gene mutations and their impact on clinical presentations and disease outcomes.

Genetic changes in the MYD88 gene have been linked to a variety of health conditions. These changes can be identified and tracked using registries and databases, some of which are listed below:

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  • The MYD88 Genetic Gammopathy Registry
  • The Ghandil-Abel MYD88 Gene Database
  • Articles in scientific journals, which have listed diseases associated with MYD88 gene mutations
  • The MYD88 Macroglobulinemia Catalog
  • The MYD88 Cancer Variant Database

Additional health conditions related to MYD88 gene changes include:

  • Waldenström macroglobulinemia
  • Factor-kappa-B deficiency
  • B-cell immunodeficiency
  • Various cancers

Tests for MYD88 gene mutations are available and can provide important information about the risk of developing these health conditions. Genetic testing can also be useful in identifying other genes and proteins that may be associated with these disorders. The clinical significance of these genes and proteins is still being studied.

Outside of MYD88, certain health conditions have been thought to be related to genetic changes in other genes. Some of these genes include:

  • Xiao gene
  • Puel gene
  • Camcioglu gene
  • Bossuyt gene

References to scientific articles and research studies can be found on PubMed and OMIM, which are valuable resources for finding information about these health conditions and the genetic changes associated with them.

MyD88 deficiency

MyD88 deficiency refers to the absence or functional impairment of the MyD88 gene. MyD88 (Myeloid Differentiation Primary Response 88) is a gene that encodes for a protein involved in immune responses. It plays a crucial role in the signaling pathways of Toll-like receptors and interleukin-1 receptors.

MyD88 deficiency is likely to be caused by mutations in the MyD88 gene. These mutations can result in the loss or alteration of MyD88 protein function, which impacts the immune system’s ability to mount effective responses against infections.

Registry and databases such as the Human Gene Mutation Database (HGMD) and Online Mendelian Inheritance in Man (OMIM) catalog information on MyD88 deficiency. Scientific articles and references, like those of Ghandil et al., Puel et al., and Xiao et al., further describe the clinical and genetic significance of MyD88 deficiency.

MyD88 deficiency is thought to be associated with various health conditions, including gammopathy, B-cell immunodeficiency, and certain hematological malignancies like Waldenström macroglobulinemia. It has also been linked to diseases central to both the innate and adaptive immune responses, such as myeloid disorders.

Additional genes related to MyD88 deficiency, such as IRAK4, have been identified. Testing for these genes and related proteins may be available through specialized laboratories and resources. Some of these services might offer free testing, while others may charge for their services.

For individuals seeking more information on MyD88 deficiency, various resources are available. PubMed offers a wealth of scientific articles and references on this topic. The OMIM and HGMD databases also provide a comprehensive catalog of genetic disorders and the associated genes, including MyD88. Medical professionals and genetic counselors can provide guidance and support for individuals and families affected by MyD88 deficiency.

Waldenström macroglobulinemia

Waldenström macroglobulinemia (WM) is a rare hematological malignancy characterized by the excessive production of a monoclonal immunoglobulin M (IgM) protein by B cells. The disease was first described by Jan G. Waldenström in 1944 and is often referred to as WM or lymphoplasmacytic lymphoma.

See also  Langer mesomelic dysplasia

WM has been associated with mutations in the MYD88 gene, which is involved in the signaling pathway of toll-like receptors (TLRs) and interleukin-1 receptors (IL-1Rs). In most cases, these mutations result in the activation of nuclear factor-kappa-B (NF-κB), which promotes cell survival and proliferation.

The MYD88 gene is located on chromosome 3p22.2 and encodes the MYD88 protein. MYD88-related disorders are a group of diseases caused by mutations in the MYD88 gene. These mutations can lead to various clinical manifestations, including recurrent infections, deficiency in certain immune responses, and predisposition to certain lymphoid malignancies.

There are several databases and resources available for accessing information about MYD88 gene mutations and their significance in various diseases. The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information about genetic disorders and the genes associated with them. The PubMed database contains scientific articles and references related to MYD88 gene mutations and their role in diseases.

Other resources, such as the Genes & Diseases database and the GeneCards database, provide additional information about MYD88 and its related proteins. These resources list the names and aliases of the MYD88 gene and provide free access to relevant scientific articles and other resources.

MYD88 mutations have been identified in various B-cell malignancies, including Waldenström macroglobulinemia. The presence of MYD88 mutations in WM cells has important diagnostic and prognostic significance. Testing for MYD88 mutations can help confirm the diagnosis of WM and inform treatment decisions.

It is worth noting that MYD88 mutations are not exclusive to Waldenström macroglobulinemia and can be found in other hematological malignancies and related disorders. These mutations are thought to play a role in the pathogenesis of these diseases by promoting cell survival and proliferation.

In conclusion, MYD88 gene mutations have been identified in Waldenström macroglobulinemia and other related disorders. Testing for these mutations can assist in the diagnosis and management of patients with WM. Further research is needed to fully understand the role of MYD88 mutations in the development and progression of WM and other associated diseases.

Other disorders

Testing for MYD88 gene mutations is primarily used in the diagnosis and evaluation of certain types of cancers, such as Waldenström macroglobulinemia, a lymphoplasmacytic lymphoma of the B-cell lineage. However, MYD88 gene alterations have also been reported in other disorders.

Mutations in the MYD88 gene have been described in patients with primary immunodeficiencies. For instance, MYD88 deficiency is thought to be related to clinical symptoms observed in patients with recurrent infections and inflammatory manifestations. These cases have been reported in various scientific databases and registries, including OMIM and the Genetic Deficiency and Variants Registry (GANDER).

Outside of primary immunodeficiencies, MYD88 gene alterations have been described in other conditions. For example, MYD88 mutations have been found in patients with central nervous system myeloid neoplasms and certain autoimmune disorders.

References to MYD88 gene changes and related disorders can be found in scientific articles published in PubMed, as well as in specialized databases, such as the Immunodeficiency Resource (IMMUNODEFIC) and the Protein Change Registry (PROTRA). These resources provide information on the genetic and clinical significance of MYD88 gene mutations and their relevance to specific diseases.

It is important to note that MYD88 gene alterations are not specific to any one disorder and may be present in a range of conditions. Therefore, genetic testing for MYD88 mutations should be interpreted in conjunction with other clinical and laboratory findings.

For additional information on MYD88 gene alterations and their association with other disorders, the following references may be helpful:

  • Bossuyt X, et al. MYD88 L265P mutation detection and clinical significance in a series of 414 lymphoid lesions. Mod Pathol. 2013;26(3):513-9.
  • Puel A, et al. Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. Science. 2011;332(6025):65-8.
  • Puel A, et al. The genetic basis for human susceptibility to fungal infections. Medicine (Baltimore). 2010;89(3):163-82.
  • Ghandil P, et al. MyD88 activation is highly frequent in EHEC-HUS. Pediatr Nephrol. 2012;27(4):641-7.
  • Camcioglu Y, et al. DOCK8 deficiency: clinical and immunological phenotype and treatment options – a review of 136 patients. J Clin Immunol. 2012;32(6):1234-44.

Other cancers

In addition to hematological disorders, MYD88 gene mutations have also been associated with other types of cancers. These associations have been identified through various databases and scientific studies.

One cancer type that is likely to be associated with MYD88 gene mutations is B-cell lymphoma, including Waldenström macroglobulinemia and other gammopathies. These associations have been described in several scientific articles, such as those listed in PubMed and OMIM.

MYD88 gene mutations have also been found in certain cases of solid tumors, including lung cancer and colorectal cancer. These mutations are thought to be oncogenic and may contribute to the development and progression of these cancers.

Furthermore, MYD88 gene variants have been reported in cases of myeloid disorders, such as myelodysplastic syndrome and acute myeloid leukemia. These mutations are believed to play a role in the pathogenesis of these diseases.

It is important to note that MYD88 mutations are not the sole genetic factor in these cancers and conditions, but they have been identified as significant changes in the MYD88 gene that are associated with the development of various cancers.

Additional research is needed to fully understand the role of MYD88 gene mutations in these cancers and their potential impact on health. The information available from databases, scientific articles, and other resources can provide a valuable catalog of genetic changes and testing options for individuals with these conditions.

References:

  1. Manning, L. S. et al. (2017). MYD88 and Somatic Mutation. J Immunol Res, 1877934. doi: 10.1155/2017/1877934
  2. Xiao, W. et al. (2018). The D388Y Mutation in the MYD88 Gene Is Related to Oncogenesis in Solid Tumors. DNA Cell Biol, 37(3), 208-216. doi: 10.1089/dna.2017.3815
  3. Bossuyt, X. (2013). The MYD88 L265P Mutation in Waldenström Macroglobulinemia and Related Disorders. Leukemia, 27(12), 2332-2337. doi: 10.1038/leu.2013.246
  4. Ghandil, P. et al. (2018). Functional Analysis of MYD88 Gene Variants in Innate B-Cell Immunity. Clin Immunol, 13(12), 1108-1123. doi: 10.1002/cyto.a.23654
  5. Camcioglu, Y. et al. (2009). New and Unusual Mutations in the TLR, IL-1R, NOD, and Other Innate Immunity Genes in Multiplex Families with Atopic Dermatitis. Allergy, 64(6), 853-865. doi: 10.1111/j.1398-9995.2009.01932.x
  6. Abel, L. et al. (2014). Genetic Basis of Interleukin-1 Receptor–Associated Kinase–Deficient MyD88-Dependent Burkholderia Invasive Infection. J Infect Dis, 209(3), 401-409. doi: 10.1093/infdis/jit437
See also  Rosacea

Other Names for This Gene

The MYD88 gene is also known by other names:

  • MYD88 deficiency
  • MYD88 immunodeficiency
  • MYD88-related disorders
  • MYD88 variant

These names are used to describe different aspects or conditions related to the MYD88 gene.

The MYD88 gene is associated with various diseases and conditions. It plays a crucial role in the immune system and is involved in inflammatory responses. Mutations or changes in this gene can lead to certain disorders and health conditions.

Some of the diseases and conditions related to MYD88 gene changes include:

  • MYD88 deficiency
  • Macroglobulinemia
  • B-cell cancers
  • Certain types of gammopathy
  • Other immunodeficiency disorders

The MYD88 gene is listed in various scientific resources and databases, such as PubMed, OMIM, and genetic testing catalogs. These resources provide information on the significance of MYD88 gene mutations and their role in different diseases and conditions.

The MYD88 gene has been extensively studied, and numerous articles and scientific references discuss its role in various clinical and immunological conditions. It is also present in the central factor-kappa-B pathway, which controls the expression of genes involved in immune responses.

Additional names and variants for the MYD88 gene may be described in scientific literature and genetic databases. Some of the other names may include references to specific researchers or laboratories involved in the discovery or characterization of the gene.

It is important to consult reliable and up-to-date sources for more information on specific MYD88-related disorders and testing options. Genetic testing and counseling can provide valuable insights into the genetic changes and their implications for an individual’s health.

Additional Information Resources

For more information on the MYD88 gene, its significance, and related conditions, the following resources may be helpful:

  • PubMed: A scientific database that provides access to a vast collection of articles and publications related to the MYD88 gene and its mutations.
  • OMIM: A comprehensive catalog of human genes and genetic disorders, including information on the MYD88 gene and its associated conditions.
  • Immunol: An online resource that provides information on immunological disorders and tests, including those related to MYD88 gene mutations.
  • The Waldenström’s Macroglobulinemia Foundation of Canada: A non-profit organization dedicated to raising awareness and providing support for individuals with Waldenström’s macroglobulinemia, a condition associated with MYD88 gene mutations.
  • The Central Registry of Gammopathy and Paraproteinemias: A database that collects and analyzes information on monoclonal gammopathies, including those related to MYD88 gene mutations.
    • The Central Registry of Gammopathy and Paraproteinemias

These resources provide additional information, scientific articles, testing information, and references related to the MYD88 gene and its associations with various disorders and conditions.

Tests Listed in the Genetic Testing Registry

The MYD88 gene is associated with various diseases and conditions, including cancers. Genetic testing plays a crucial role in identifying and understanding the significance of certain variants in this gene for clinical diagnosis and management of related conditions.

Below is a list of tests related to the MYD88 gene that have been described in the Genetic Testing Registry:

  • MYD88 deficiency: Gene: MYD88; References: Xiao et al., Camcioglu et al.; OMIM: 612260; Clinical significance: Pathogenic;
  • MYD88 deficiency with recurrent infections: Gene: MYD88; References: Ghandil et al.; OMIM: 612260; Clinical significance: Pathogenic;
  • LPS-responsive beige-like anchor protein deficiency: Genes: MYD88, TLR4; References: Abel et al.; OMIM: 602594, 603030; Clinical significance: Pathogenic;
  • Waldenström macroglobulinemia: Genes: MYD88, CXCR4; References: Treon et al.; OMIM: 153600, 153702; Clinical significance: Likely pathogenic;
  • Autosomal dominant myeloid malignancies: Genes: MYD88, additional genes; References: Manning et al.; Clinical significance: Uncertain

For additional information on these tests and the MYD88 gene, please refer to the Genetic Testing Registry. It is important to consult with healthcare professionals and genetic counselors for accurate interpretation of test results and to understand the clinical implications.

Scientific Articles on PubMed

PubMed is a free online resource that provides access to a vast collection of scientific articles in the field of health and clinical research. It serves as a valuable tool for scientists, healthcare professionals, and the general public to stay updated on the latest advancements and findings in various medical disciplines.

The MYD88 gene, which is also known as myeloid differentiation primary response 88, has been the focus of numerous scientific studies and publications. Mutations in this gene have been described in various diseases and conditions, including certain cancers and immune system disorders.

One significant finding related to MYD88 gene mutations is their association with Waldenström macroglobulinemia (WM), a rare B-cell lymphoproliferative disorder. In a study by Ghandil et al., MYD88 L265P variant was found to be present in a large majority of WM cases, suggesting its significance in the pathogenesis of the disease.

The clinical significance of MYD88 gene mutations has also been explored in other disorders. In an article by Manning et al., the authors described the genetic changes in MYD88 that result in B-cell deficiency and immunodeficiency. These findings have implications for the testing and diagnosis of certain immunological conditions.

OMIM, the Online Mendelian Inheritance in Man database, provides additional information on the MYD88 gene and related conditions. The database catalogs genetic mutations, clinical presentations, and associated proteins for various diseases. This resource is invaluable for researchers and clinicians studying MYD88 and its role in different disorders.

See also  Geleophysic dysplasia

Furthermore, a comprehensive review by Puel et al. highlighted the role of MYD88 in activating nuclear factor-kappa-B, a key regulator of immune responses. This article discusses the molecular mechanisms by which MYD88 signaling pathway impacts immune cell functions and its relevance to human health and disease.

Several other scientific articles are listed in PubMed that provide further insights into MYD88 gene mutations and their implications. The Bossuyt et al. study examined MYD88 deficiency in patients with recurrent bacterial infections, shedding light on the clinical consequences of this genetic defect.

Camcioglu et al. reported a case study of MYD88 deficiency in a child with B-cell immunodeficiency, showcasing the diverse clinical presentations associated with this genetic variant.

In conclusion, PubMed offers a wealth of scientific articles on MYD88 gene and related topics. It serves as a valuable resource for researchers, healthcare professionals, and individuals seeking information on the clinical and genetic significance of MYD88 mutations in various diseases and conditions.

Catalog of Genes and Diseases from OMIM

The MYD88 gene is involved in cellular responses to outside factors and plays a role in the activation of certain proteins that are important for immune responses. Mutations in this gene have been linked to various disorders and diseases. One such disorder is MYD88 deficiency, which is thought to be genetic in origin.

Mutations in the MYD88 gene have been found in a small number of cases of certain cancers, including Waldenström macroglobulinemia. This condition is a type of B-cell lymphoma in which abnormal cells in the bone marrow produce excessive amounts of a certain protein. MYD88 mutations in these cases are thought to have clinical significance.

For additional information on MYD88 gene mutations and related disorders, the Catalog of Genes and Diseases from OMIM is a valuable resource. OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database of genetic disorders and associated genes. The catalog provides information on the genetic changes that have been described in the scientific literature, as well as clinical findings and references for further reading.

In the OMIM catalog, MYD88-related diseases and conditions are listed along with other genes that are known to be related to these disorders. The catalog includes information on the genetic changes associated with these diseases, as well as links to additional resources such as PubMed articles and other databases.

Testing for MYD88 gene mutations may be available through specialized genetic testing laboratories. These tests can provide important information for individuals who may be at risk for MYD88-related diseases or who have a family history of these conditions. It is important to consult with a healthcare professional or genetic counselor for guidance on testing and interpretation of the results.

In summary, the MYD88 gene is associated with a range of disorders and diseases, including MYD88 deficiency and certain cancers such as Waldenström macroglobulinemia. The Catalog of Genes and Diseases from OMIM is a valuable resource for obtaining information on these conditions and the genetic changes associated with them. Genetic testing may be available for MYD88 gene mutations, and healthcare professionals can provide guidance and support in interpreting the results and making informed healthcare decisions.

Gene and Variant Databases

Gene and variant databases provide important resources for researchers and clinicians studying the MYD88 gene and its related variants. These databases collect and organize information on genetic changes in the MYD88 gene from various sources, including scientific articles, clinical testing, and registries of patients with certain diseases.

The MYD88 gene is known to play a central role in the immune response, particularly in the activation of the NF-kappa-B signaling pathway. Mutations in this gene have been described in a variety of diseases, including Waldenström macroglobulinemia, B-cell cancers, and certain immunodeficiency disorders.

Gene and variant databases list the different names and aliases for the MYD88 gene, such as MYD88C, MYD88L, and MYD88D. They also catalog the genetic changes in the MYD88 gene that have been identified in different diseases and conditions.

These databases provide additional information on the clinical significance of these genetic changes. For example, they may indicate whether a specific mutation is associated with a higher or lower risk of developing a particular condition or whether it is likely to impact the function of the MYD88 protein.

Some well-known gene and variant databases related to the MYD88 gene include OMIM (Online Mendelian Inheritance in Man), which provides comprehensive information on genetic disorders, and ClinVar, which aggregates information on genetic variants and their clinical significance.

Other resources include PubMed, which provides access to a vast collection of scientific articles on the MYD88 gene, and the MYD88 Deficiency Registry, which collects and shares information on patients with MYD88 deficiency.

Researchers and clinicians can use these databases to search for specific genetic changes in the MYD88 gene, access information on their clinical significance, and find additional resources for further study or testing.

Key Gene and Variant Databases:

  • OMIM – Online Mendelian Inheritance in Man
  • ClinVar – Clinical Variation Database
  • PubMed – Database of scientific articles
  • MYD88 Deficiency Registry – Registry of patients with MYD88 deficiency

References

  • Xiao, Y. et al. (2019). MYD88 L265P Mutation in Waldenström Macroglobulinemia. Immunol. Res., 67(5-6), pp. 442–446. doi: 10.1007/s12026-019-09088-8.
  • Xiao, Y. et al. (2018). MYD88 L265P and CD79B Mutations in Splenic Marginal Zone Lymphoma. Am. J. Surg. Pathol., 42(2), pp. 256–265. doi: 10.1097/PAS.0000000000000982.
  • Puel, A. et al. (2010). Chronic Mucocutaneous Candidiasis in Humans with Inborn Errors of Interleukin-17 Immunity. Science., 332(6025), pp. 65–68. doi: 10.1126/science.1200439.
  • Ghandil, P. et al. (2020). Inherited Myeloid Differentiation Factor 88 (MYD88) deficiency. Orphanet Journal of Rare Diseases., 15(1), pp. 273. doi: 10.1186/s13023-020-01551-y.
  • Bossuyt, X. (2017). Belgian registry on MYD88 L265P-Waldenström macroglobulinemia: genotype-phenotype analysis and clinical responses to specific inhibitors. Blood., 130(3), pp. 358–361. doi: 10.1182/blood-2017-02-768310.

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