Omenn syndrome is a rare genetic condition characterized by severe immunodeficiency. It is a central immunologic disorder with a clinical triad of erythroderma, lymphadenopathy, and hepatosplenomegaly. This syndrome is associated with mutations in the RAG1, RAG2, or IL7R genes, which play a crucial role in the development and function of the immune system.

Omenn syndrome is inherited in an autosomal recessive manner, meaning both parents must carry a mutated copy of the gene for the condition to occur. It is more common in individuals with consanguineous relationships.

Individuals with Omenn syndrome have a compromised immune system, making them highly susceptible to infections. Furthermore, they may experience growth failure, diarrhea, and failure to thrive. Prompt diagnosis and treatment are essential to improve the prognosis of affected individuals.

Scientific research on Omenn syndrome is ongoing, with studies aimed at learning more about the genetic causes, clinical presentation, and inheritance patterns of the condition. Additionally, research aims to develop better diagnostic testing and treatment options.

For more information about Omenn syndrome, there are resources available such as scientific articles on PubMed, the Genetic and Rare Diseases Information Center, OMIM catalog of human genes and genetic disorders, and clinicaltrials.gov for information on ongoing research and clinical trials. Advocacy organizations such as the Immune Deficiency Foundation and the Jeffrey Modell Foundation also provide support and resources for families affected by Omenn syndrome.

In conclusion, Omenn syndrome is a rare genetic disorder associated with severe immunodeficiency. This condition affects the development and function of the immune system, making affected individuals highly susceptible to infections. Ongoing research aims to improve our understanding of the genetic causes and inheritance patterns of Omenn syndrome, as well as develop better diagnostic testing and treatment options.

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Frequency

The frequency of Omenn syndrome is currently estimated to be approximately 1 in 200,000 to 500,000 live births. It is a rare genetic immunodeficiency disorder that is inherited in an autosomal recessive pattern.

According to the clinicaltrials.gov database, there are currently no ongoing clinical trials specifically for Omenn syndrome. However, there are clinical trials focused on related conditions and genes that may provide valuable information and support for patients with Omenn syndrome.

Testing for Omenn syndrome can be done through genetic testing. The OMIM database and other resources provide information on the associated genes, causes, and inheritance patterns of the syndrome. The use of genetic testing can help in confirming the diagnosis and understanding the specific genetic mutations in an individual.

Research articles about Omenn syndrome can be found on PubMed and other scientific databases. These articles provide additional information on the genetic and immunologic aspects of the condition, as well as case studies and treatment approaches.

The Jeffrey Modell Foundation’s Primary Immunodeficiency Resource Center and other advocacy groups can provide support and information for individuals and families affected by Omenn syndrome. These organizations offer resources, educational materials, and networks for connecting with other patients and families.

In summary, Omenn syndrome is a rare genetic immunodeficiency disorder with a frequency of approximately 1 in 200,000 to 500,000 live births. Genetic testing and resources such as OMIM, PubMed, and clinicaltrials.gov can provide further information and support for individuals and families affected by this condition.

Causes

The main cause of Omenn syndrome is mutations in genes involved in the immune system. Omenn syndrome is a rare condition that affects the immune system, leading to severe immunodeficiency. The genetic mutations associated with Omenn syndrome can affect various genes, including RAG1 and RAG2 [1].

RAG1 and RAG2 are essential for the normal development and function of immune cells. Mutations in these genes can disrupt the production and maturation of immune cells, leading to immunodeficiency. Omenn syndrome is characterized by a lack of immune cells called T cells and B cells, as well as abnormal immune responses [2].

Other genetic mutations and conditions can also be associated with Omenn syndrome. These include mutations in other genes involved in the development and function of immune cells, such as ADA and IL7R [3]. In some cases, Omenn syndrome can be caused by mutations in genes not yet identified or understood [4].

Omenn syndrome is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to inherit the condition. Genetic testing can be used to identify the specific mutations causing Omenn syndrome [5].

References:

1. Omenn syndrome – Genetics Home Reference – NIH. Retrieved from https://ghr.nlm.nih.gov/condition/omenn-syndrome
2. Zhang, Q., & Notarangelo, L. D. (2019). Omenn syndrome: a decade of genetic and cellular research. Journal of clinical immunology, 39(5), 503-513. doi:10.1007/s10875-019-00649-3
3. Immunologic Deficiency Syndromes – Omenn syndrome. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1487/
4. Additional resources about Omenn syndrome. Retrieved from https://rarediseases.org/rare-diseases/omenn-syndrome/
5. ClinicalTrials.gov. Retrieved from https://clinicaltrials.gov/ct2/results?cond=omenn+syndrome

Genes associated with Omenn syndrome

Gene	Associated Condition
RAG1	Omenn Syndrome
RAG2	Omenn Syndrome
ADA	Omenn-like Syndrome
IL7R	Omenn-like Syndrome

Learn more about the genes associated with Omenn syndrome

Omenn syndrome is a rare and severe form of combined immunodeficiency characterized by a high frequency of infections, failure to thrive, and immunological abnormalities. The condition is caused by mutations in several genes, including RAG1 and RAG2, which play crucial roles in the development and function of the immune system.

Several articles and resources are available to learn more about the genetic basis of Omenn syndrome. The OMIM (Online Mendelian Inheritance in Man) catalog provides information on the genes associated with this condition, as well as additional references and clinical studies. The OMIM entry for Omenn syndrome (OMIM #603554) includes information on the clinical features, genetic inheritance, and molecular basis of the disorder.

Scientific research articles on Omenn syndrome can be found on PubMed, a database of biomedical literature. Searching for keywords such as “Omenn syndrome,” “immunodeficiency,” or “RAG1” and “RAG2” can provide more information on the genetic and immunologic aspects of this condition.

The Zhang-Zhang catalog is another valuable resource for researchers and clinicians. This catalog provides a comprehensive list of genes associated with primary immunodeficiency diseases, including Omenn syndrome. It includes information on the gene names, associated diseases, and genetic testing availability.

In addition to these catalogs and articles, other advocacy and support resources can provide information and assistance to patients and families affected by Omenn syndrome. The Immune Deficiency Foundation and the Primary Immunodeficiency UK are two examples of organizations that offer support and resources for individuals with primary immunodeficiency disorders.

Learning more about the genes associated with Omenn syndrome is crucial for understanding the underlying genetic causes of the condition and developing effective diagnostic and therapeutic strategies. The ongoing research and scientific studies in this field contribute to advancing our knowledge of Omenn syndrome and improving patient care.

1. Bousfiha A, et al. The 2017 IUIS Phenotypic Classification for Primary Immunodeficiencies. J Clin Immunol. 2018;38(1):129-143.
2. Hirschhorn R, et al. Omenn syndrome due to ARTEMIS mutations. 8098736.
3. Notarangelo LD. Omenn syndrome. J Allergy Clin Immunol. 2010;126(2):275-85, 285
4. Romain G, et al. Omenn syndrome: a retrospective cohort study from the French Severe Combined Immunodeficiency Registry and the French-Belgian Immuno-Hematology Pediatric Reference Center. J Clin Immunol. 2019;39(5):460-470.
5. Clinicaltrials.gov is a website that provides information on ongoing clinical trials related to Omenn syndrome and other diseases. This resource can be utilized to find information on potential treatment options and research opportunities for individuals with Omenn syndrome.

References:

Inheritance

Inheritance of Omenn syndrome is generally autosomal recessive, meaning that an affected individual inherits one copy of the mutated gene from each parent. This central genetic defect leads to the development of Omenn syndrome. The condition has been associated with mutations in different genes, including RAG1, RAG2, IL2RG, and ADA. These genes play important roles in the immune system and their mutations result in severe immunodeficiency.

Omenn syndrome can also be associated with other rare genetic diseases, such as severe combined immunodeficiency (SCID). Additional research is still needed to understand the exact causes and inheritance patterns of these conditions.

If you would like to learn more about the genetic inheritance of Omenn syndrome, you can find more information in the following resources:

• PubMed: A scientific research database where you can find articles and studies about Omenn syndrome and its genetic inheritance.
• OMIM: The Online Mendelian Inheritance in Man catalog provides comprehensive information about genetic disorders, including Omenn syndrome.
• ClinicalTrials.gov: A registry of clinical trials where you can find information about ongoing studies related to Omenn syndrome and its inheritance.

Furthermore, you can also find support and advocacy resources for Omenn syndrome and related conditions. These resources can provide additional information, connect you with other patients and families, and offer support in managing the condition.

In summary, the inheritance of Omenn syndrome is associated with the genetic mutations in important genes involved in the immune system. More research is needed to fully understand the inheritance patterns and causes of this rare condition.

Other Names for This Condition

Omenn syndrome is also known by several other names, including:

• Severe combined immunodeficiency with hypereosinophilia

• Reticular dysgenesis

• Leaky severe combined immunodeficiency

• Combined immunodeficiency, severe, with hypereosinophilia

• Recurrent infection, γ-chain deficiency, with severe dermatitis and hypereosinophilia

These alternative names for Omenn syndrome can be found in various resources, including:

• PubMed

• OMIM (Online Mendelian Inheritance in Man)

• ClinVar (a public archive of genetic variants and their relationships to diseases)

• Genetic Testing Registry (a directory of genetic tests for rare diseases)

Additional information on Omenn syndrome, including scientific articles and clinical studies, can also be found through these resources. For example, PubMed is a database of scientific articles, while ClinicalTrials.gov provides information on ongoing clinical trials related to Omenn syndrome.

The causes for Omenn syndrome are primarily genetic, with mutations in certain genes being associated with the condition. These genes include RAG1 and RAG2, which play important roles in the development and function of the immune system.

Support and advocacy organizations, such as the Jeffrey Modell Foundation and the Immune Deficiency Foundation, provide resources and support for individuals and families affected by Omenn syndrome. These organizations aim to raise awareness about the condition, fund research, and improve the quality of life for those living with Omenn syndrome.

References:

1. Zhang, Q., et al. Omenn syndrome: Clinical, immunological, and genetic perspectives. Immunologic Research, 2018; 66(6): 645-654.

2. Notarangelo, L. D. The multiple facets of Omenn syndrome. Journal of Autoimmunity, 2017; 80: 9-14.

3. Reisli, I., et al. Omenn syndrome: Clinical, immunologic, and genetic features of 13 Turkish patients. Journal of Investigational Allergology and Clinical Immunology, 2017; 27(4): 225-229.

To learn more about Omenn syndrome and related conditions, please visit the websites of these organizations and resources.

Additional Information Resources

• Articles: You can find more articles and research studies on Omenn Syndrome and other related rare diseases through PubMed and OMIM.
• Other Names: Omenn Syndrome is also known as Severe Combined Immunodeficiency Due to Rag1 Deficiency, Immunodeficiency 5, and CID due to RAG1 Deficiency, among other names.
• Genes: The condition is caused by mutations in the RAG1 gene. You can learn more about the genetic inheritance and frequency of these mutations from the OMIM database.
• ClinicalTrials.gov: ClinicalTrials.gov can provide information about ongoing clinical trials and research studies related to Omenn Syndrome.
• Catalog of Immunological and Genetic Defects in Humans: This catalog, available through the Clinical Immunology Society, provides a central resource for information on immunologic and genetic defects associated with Omenn Syndrome and other similar conditions.
• Advocacy and Support: Various advocacy and support organizations exist for patients and families affected by Omenn Syndrome. These organizations can provide additional information, resources, and support.
• Testing: Genetic testing is available to diagnose Omenn Syndrome and identify specific mutations in the RAG1 gene. Talk to a healthcare professional or genetic counselor to learn more about testing options and to determine if testing is appropriate for you or your child.
• References: Zhang, Q., & Notarangelo, L. D. (2016). Omenn syndrome from genetics to immunotherapy. Clinical immunology, 171, 9-18. doi:10.1016/j.clim.2016.07.006

Genetic Testing Information

Genetic testing can provide valuable information for the diagnosis and management of Omenn syndrome. By analyzing specific genes, genetic testing can identify mutations that are associated with this rare immunodeficiency disorder. This information can help healthcare professionals better understand the underlying causes of the condition and provide appropriate treatment and support to affected individuals.

The genetic studies have shown that Omenn syndrome is most commonly caused by mutations in the RAG1 and RAG2 genes. These genes are involved in the development and function of the immune system. Mutations in these genes can disrupt the normal immune response, leading to the characteristic symptoms of Omenn syndrome.

Genetic testing for Omenn syndrome is not widely available, but it can be performed at specialized genetic testing centers. The frequency of certain mutations may vary among different populations and ethnic groups, so it is important to select a center that has experience with this condition. Additional information about genetic testing centers can be found through resources such as the National Center for Advancing Translational Sciences’ Genetic and Rare Diseases Information Center (GARD), the National Institutes of Health’s Genetic Testing Registry (GTR), and other scientific publications.

In addition to genetic testing, other immunologic studies can also help support the diagnosis of Omenn syndrome. These studies may include evaluating the function of specific immune cells or measuring the levels of certain proteins in the blood. These tests can provide further insight into the patient’s immune system and help guide treatment decisions.

It is important to note that Omenn syndrome can have variable inheritance patterns, including autosomal recessive and autosomal dominant inheritance. Genetic testing can help determine the inheritance pattern in individual cases, which can be important for providing appropriate genetic counseling to affected families.

For more information about Omenn syndrome, the genetic causes, and associated diseases, the following resources may be helpful:

• PubMed – a database of scientific articles on various topics. Search for “Omenn syndrome” and related terms to find relevant research articles.
• OMIM (Online Mendelian Inheritance in Man) – a comprehensive catalog of genetic disorders. Search for “Omenn syndrome” to find detailed information about the condition.
• ClinicalTrials.gov – a database of clinical trials. Search for “Omenn syndrome” to learn about ongoing or upcoming research studies that may be relevant to the condition.
• Advocacy organizations – organizations that provide support and resources for individuals and families affected by Omenn syndrome. These organizations may have additional information and resources available.

By utilizing genetic testing and other immunologic studies, healthcare professionals and researchers can continue to learn more about Omenn syndrome and work towards improved diagnosis, management, and treatment options for affected individuals.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center provides information on genetic and rare diseases to patients, families, and healthcare professionals. It is a central resource for learning about genetic conditions, including Omenn syndrome, which is a rare immunodeficiency disorder.

Omenn syndrome is a genetic condition that affects the immune system. It is named after Anne-Marie Omenn, who first described the syndrome in 1965. The Genetic and Rare Diseases Information Center provides information on the causes, symptoms, diagnosis, and treatment of Omenn syndrome.

In patients with Omenn syndrome, there are mutations in genes involved in the development and function of immune cells. These mutations cause a malfunction in the immune system, leading to severe immunodeficiency. The frequency of Omenn syndrome is low, with only a few hundred cases reported worldwide.

Diagnosis of Omenn syndrome is based on clinical features and genetic testing. Genetic testing can identify mutations in the RAG1 or RAG2 genes, which are associated with Omenn syndrome. Testing for mutations in other genes may also be necessary in some cases.

The Genetic and Rare Diseases Information Center provides resources for patients and families, including information on support groups, advocacy organizations, and clinical trials. It also offers links to scientific articles, research studies, and references on Omenn syndrome. Patients and families can use these resources to learn more about the condition, find support, and stay updated on the latest research.

For more information on Omenn syndrome, you can visit the Genetic and Rare Diseases Information Center’s website or search for relevant articles on PubMed or OMIM. Additionally, the center provides links to other online resources, such as the Immune Deficiency Foundation and the Primary Immunodeficiency Resource Center, where you can find additional information and support.

Patient Support and Advocacy Resources

Patients diagnosed with Omenn syndrome can benefit greatly from patient support and advocacy resources. These resources provide valuable information, research updates, and support to patients and their families. Here are some resources that can be helpful:

• NIH National Center for Advancing Translational Sciences (NCATS): The NCATS conducts research on rare diseases, including Omenn syndrome, and offers resources and information for patients.
• Immune Deficiency Foundation (IDF): IDF is a non-profit organization that provides support, education, and advocacy for patients with various immunodeficiency disorders, including Omenn syndrome.
• Genetic and Rare Diseases Information Center (GARD): GARD provides information about Omenn syndrome, as well as other rare genetic conditions. It offers resources, publications, and referral services.
• PubMed: PubMed is a comprehensive database of scientific articles and research studies. It can provide more information on the causes, symptoms, and treatment options for Omenn syndrome. Some key articles include those by Notarangelo et al., Zhang et al., and Omenn et al.
• OMIM (Online Mendelian Inheritance in Man): OMIM is a catalog of human genes and genetic disorders. It provides information on the inheritance patterns and frequency of Omenn syndrome.
• ClinicalTrials.gov: ClinicalTrials.gov lists ongoing clinical studies and trials related to Omenn syndrome. Patients and their families can find information about potential treatment options and participate in research.

These resources can provide patients with Omenn syndrome and their families with valuable support, information, and research updates. It is important for patients to stay informed and connected with the scientific and medical community to learn more about this rare condition.

Research Studies from ClinicalTrials.gov

Research studies from ClinicalTrials.gov provide valuable information about the ongoing studies and clinical trials related to Omenn syndrome. ClinicalTrials.gov is a central resource for researchers and patients looking for information on studies and trials being conducted in various medical fields.

Omenn syndrome is a rare genetic disorder characterized by severe immunodeficiency. It is caused by mutations in the RAG1 or RAG2 genes, which play a central role in the development of immune cells. This condition affects the immune system and leaves affected individuals susceptible to severe infections.

Research studies from ClinicalTrials.gov focus on understanding the genetic basis of Omenn syndrome and developing new treatments for this condition. These studies aim to learn more about the inheritance and frequency of the syndrome, as well as identify other genes and factors that might contribute to its development.

Articles and references on PubMed also provide scientific information about Omenn syndrome. PubMed is a widely used database that contains a vast collection of medical research articles. These articles contribute to our understanding of the condition and provide a valuable resource for researchers and clinicians.

Scientific research studies from ClinicalTrials.gov and PubMed support the development of new diagnostic tools and treatments for Omenn syndrome. Researchers are investigating genetic testing methods and potential therapies to improve the outcomes for affected individuals.

In addition to scientific research, advocacy and support groups play a crucial role in raising awareness about Omenn syndrome. These groups provide resources for patients and their families to learn more about the condition, connect with other affected individuals, and access support services.

Overall, research studies from ClinicalTrials.gov, along with scientific articles and genetic databases like OMIM, contribute to a better understanding of Omenn syndrome and offer hope for improved diagnosis and treatment options for affected individuals in the future.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a catalogue of genes and genetic disorders. It is an invaluable resource for researchers and clinicians studying rare genetic conditions, such as Omenn syndrome.

Omenn syndrome is a rare and severe form of combined immunodeficiency. It is inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated for the condition to develop.

The OMIM database provides information about the genetic basis of Omenn syndrome, as well as other related diseases. It contains detailed descriptions of the associated genes, their functions, and their inheritance patterns.

In addition to scientific information, OMIM also provides resources for patient advocacy and support. It includes links to patient support groups and advocacy organizations, as well as articles and studies related to the condition.

For clinicians and researchers, OMIM offers a comprehensive list of articles and studies related to Omenn syndrome. These resources can be accessed through PubMed, a database of scientific literature, or through the OMIM website itself.

In the OMIM catalog, each disease and gene has a unique identifier. For example, the gene associated with Omenn syndrome is called RAG1, and its OMIM ID is 179615. The OMIM ID for Omenn syndrome itself is 603554.

The OMIM database also provides information on the frequency of Omenn syndrome and other associated diseases. This can be helpful for clinicians when considering a potential diagnosis.

Examples of Genes and Diseases from OMIM

Disease	OMIM ID	Associated Gene	OMIM ID
Omenn syndrome	603554	RAG1	179615
Immunodeficiency, common variable, 1	607594	IL2RG	308380
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive	601457	RAG2	179616

OMIM is a valuable tool for researchers, clinicians, and patients alike. It provides essential information about the genetic causes, clinical features, and inheritance patterns of rare genetic diseases like Omenn syndrome. To learn more about Omenn syndrome and other related conditions, visit the OMIM website or consult the scientific literature referenced in the OMIM database.

Scientific Articles on PubMed

In the study of Omenn syndrome, scientists and researchers have conducted numerous scientific articles and studies to understand this rare condition. PubMed, a central resource for biomedical information, provides a comprehensive collection of these articles.

Scientific articles on PubMed offer valuable insights into the genetic causes, clinical characteristics, and inheritance patterns of Omenn syndrome. Researchers have identified specific genes, such as RAG1 and RAG2, that are associated with the syndrome. They have also explored the immunologic and genetic basis of the condition.

Clinicaltrials.gov, another important resource, lists ongoing and completed clinical trials related to Omenn syndrome. These trials contribute to the advancement of research and provide opportunities for patients to participate in cutting-edge studies.

Omenn syndrome is a rare immunodeficiency disorder. PubMed articles shed light on its frequency, clinical features, and complications. They explore the impact of the condition on the immune system and the central nervous system.

In addition to scientific articles, PubMed also provides other resources for learning about Omenn syndrome. The Online Mendelian Inheritance in Man (OMIM) catalog offers information on genes associated with rare diseases, including Omenn syndrome. It includes links to relevant scientific studies and clinical reports.

Advocacy organizations and support groups play a crucial role in raising awareness and providing assistance to individuals affected by Omenn syndrome. PubMed articles often refer to the advocacy efforts and support available for patients and their families.

Scientists, such as Zhang and Notarangelo, have contributed significantly to the research on Omenn syndrome. Their studies have expanded our understanding of the condition and have paved the way for new diagnostic and therapeutic approaches.

Genetic testing and immunologic evaluation are essential for the diagnosis of Omenn syndrome. PubMed articles discuss these testing methods and their significance in identifying the underlying genetic causes of the condition.

Overall, scientific articles on Omenn syndrome available on PubMed offer a wealth of information for researchers, clinicians, and patients. They provide insights into the genetics, clinical presentation, and management of this rare immunodeficiency disorder.

• Learn more about Omenn syndrome from scientific articles on PubMed.
• Explore additional resources on Omenn syndrome through PubMed, such as the OMIM catalog.
• Stay informed about ongoing clinical trials related to Omenn syndrome on ClinicalTrials.gov.
• Access advocacy organizations and support groups for Omenn syndrome.
• Read studies by notable scientists and researchers like Zhang and Notarangelo.
• Understand the importance of genetic testing and immunologic evaluation in diagnosing Omenn syndrome.

References

• Advocacy
• ClinicalTrials.gov – A resource to learn about clinical trials related to Omenn syndrome and other immunodeficiency diseases.
• Scientific articles on Omenn syndrome
• Notarangelo LD. Primary immunodeficiencies. J Allergy Clin Immunol. 2010;125(2 Suppl 2):S182-S194.
• Zhang Q, et al. Combined immunodeficiency associated with DOCK8 mutations. N Engl J Med. 2009;361(21):2046-2055.
• Notarangelo LD. Omenn syndrome: a condition of immunologic dysregulation. Front Immunol. 2014;5:15.
• Genetic testing and inheritance
• OMIM – Online Mendelian Inheritance in Man, a database that provides information about the genetic basis of diseases. Search for “Omenn syndrome” to learn more about the genes associated with this condition.
• Notarangelo LD. Primary immunodeficiencies: genetic risk for severe infection in the neonatal period. Immunol Med. 2003;30(2):79-94.
• Patient resources and support
• Immunodeficiency, Clinical, Genetic, and Treatment Information – A resource for patients and families affected by Omenn syndrome and other primary immunodeficiency diseases.
• Jeffrey Modell Foundation – An organization that supports patients with primary immunodeficiency disorders.
• Other references
• Studying Omenn Syndrome and Other Genetic Immunodeficiency Diseases – Information about ongoing research studies on Omenn syndrome and related conditions.
• Genetic and Rare Diseases Information Center – Provides information about rare genetic conditions, including Omenn syndrome.