JAK3-deficient Severe Combined Immunodeficiency (SCID) is a rare genetic condition that affects the immune system. SCID is a group of genetic disorders that cause severe deficiencies in the immune system, making individuals extremely susceptible to infections. JAK3-deficient SCID is named after the JAK3 gene, which is responsible for producing a protein that is essential for the function of certain immune cells known as killer T cells.

The frequency of JAK3-deficient SCID is very low, accounting for only a small percentage of all cases of SCID. However, it is an important genetic condition to understand, as it can help researchers and healthcare professionals develop better diagnostic testing methods and treatment strategies for individuals with SCID.

Scientific articles and references about JAK3-deficient SCID can be found in several online resources, such as PubMed and OMIM. These resources provide additional information on the condition, including genetic inheritance patterns, associated symptoms, and available support resources for patients and their families.

Learn more about JAK3-deficient SCID and other related genetic diseases by exploring the scientific literature and genetic databases. This information is crucial for healthcare professionals, researchers, and individuals affected by the condition, as it can support the development of targeted therapies and improve the overall management of JAK3-deficient SCID.

Frequency

The frequency of JAK3-deficient severe combined immunodeficiency is rare. This condition is more common in certain populations, such as the Amish community in the United States. However, it is still considered a rare genetic disorder.

According to the Online Mendelian Inheritance in Man (OMIM) database, there have been only a few reported cases of JAK3 deficiency. These cases have been documented in scientific articles and case reports.

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Additional information about the frequency of this condition can be found in scientific articles and other resources. The JAK3 Deficiency Center website provides advocacy and support for patients and families affected by this condition.

In terms of inheritance, JAK3-deficient severe combined immunodeficiency follows an autosomal recessive pattern. This means that an individual must inherit two copies of the defective gene, one from each parent, in order to develop the condition.

Genetic testing can be done to confirm a diagnosis of JAK3 deficiency. This testing can determine if a patient has mutations in the JAK3 gene associated with the condition.

For more information about JAK3-deficient severe combined immunodeficiency and its frequency, refer to the following references:

• OMIM entry on JAK3 deficiency: https://omim.org/entry/600173
• Scientific articles about JAK3-deficient severe combined immunodeficiency in PubMed: https://pubmed.ncbi.nlm.nih.gov/?term=JAK3-deficient+severe+combined+immunodeficiency

By learning more about the frequency of JAK3-deficient severe combined immunodeficiency, we can better understand this rare condition and provide support for affected individuals and their families.

Causes

The causes of JAK3-deficient severe combined immunodeficiency (SCID) are genetic mutations in the JAK3 gene, which is responsible for producing a protein called Janus kinase 3. This protein is crucial for the normal development and functioning of the immune system.

JAK3-deficient SCID is a very rare condition, with only a few reported cases. It is inherited in an autosomal recessive manner, meaning that both parents must be carriers of the mutated JAK3 gene in order for their child to have the condition.

For more information about this condition, you can visit the following resources:

• JAK3-deficient SCID – A page on the OMIM (Online Mendelian Inheritance in Man) database that provides detailed information on the condition, including associated genes, clinical features, inheritance patterns, and more. Visit the page here.
• Severe Combined Immunodeficiency – A catalog of the various types of SCID, including JAK3-deficient SCID, on the Genetic and Rare Diseases Information Center (GARD) website. Learn more about SCID here.
• PubMed – A scientific research database where you can find articles related to JAK3-deficient SCID. Use keywords like “JAK3, severe combined immunodeficiency” to search for relevant articles. Access PubMed here.
• Testing and Additional Resources – If you are a patient or caregiver seeking testing, support, or additional resources for JAK3-deficient SCID, you can contact advocacy organizations like the Immune Deficiency Foundation or the Severe Combined Immunodeficiency Newborn Screening and Genetic Testing Consortium. They can provide guidance and connect you with relevant information and services.

It is important to note that JAK3-deficient SCID is just one of many diseases associated with the immune system. There are other rare conditions that can result from mutations in certain genes, affecting different aspects of the immune system. For further reading and references, consult scientific articles and publications targeted towards immunology and genetics.

Learn more about the gene associated with JAK3-deficient severe combined immunodeficiency

JAK3-deficient severe combined immunodeficiency (SCID) is a rare genetic condition that affects the immune system. It is caused by mutations in the JAK3 gene, which plays a crucial role in the development and function of certain immune cells called lymphocytes.

Patients with JAK3-deficient SCID have a severe impairment in their immune system, making them highly susceptible to severe and life-threatening infections. This condition is inherited in an autosomal recessive manner, meaning that both copies of the JAK3 gene must be mutated for the disease to occur.

To confirm a diagnosis of JAK3-deficient SCID, genetic testing is typically performed. This helps to identify mutations in the JAK3 gene and rule out other causes of severe combined immunodeficiency. Genetic testing can also provide valuable information for genetic counseling and family planning.

There are several scientific articles and resources available to learn more about JAK3-deficient SCID and its associated genetic gene. The OMIM (Online Mendelian Inheritance in Man) catalog provides information on the genetic cause, inheritance patterns, and frequency of this condition. PubMed is another valuable resource where you can find additional articles and research on JAK3-deficient SCID and related diseases. Also, advocacy and support groups for patients with severe combined immunodeficiency can offer helpful information.

References:

• OMIM: https://www.omim.org/
• PubMed: https://pubmed.ncbi.nlm.nih.gov/

Inheritance

Inheritance of JAK3-deficient severe combined immunodeficiency (SCID) is autosomal recessive, meaning that both copies of the JAK3 gene must be altered to cause the condition. According to scientific articles from PubMed, this condition is very rare, with only a few reported cases.

Patients with JAK3-deficient SCID have a genetic mutation in the JAK3 gene, which is responsible for producing a protein involved in signaling pathways that regulate the immune system. This mutation leads to a severe combined immunodeficiency, where the patient’s immune system is severely compromised.

This condition can be caused by various genetic mutations in the JAK3 gene. Additional scientific articles from PubMed provide more information about these genetic mutations and the associated diseases.

Testing for JAK3-deficient SCID can be done through genetic testing, specifically sequencing the JAK3 gene to identify any mutations. This testing can be done at specialized genetic testing centers that focus on rare diseases and immunology.

Advocacy and research organizations, such as the Combined Immunodeficiency Foundation, provide resources and support for patients and families affected by JAK3-deficient SCID. They offer information about the condition, genetic testing, and available treatment options.

The frequency of JAK3-deficient SCID is not well-known, but it is considered to be a very rare condition. The OMIM (Online Mendelian Inheritance in Man) catalog is a valuable resource for finding more information about the genetics and inheritance of JAK3-deficient SCID.

In summary, JAK3-deficient severe combined immunodeficiency is an autosomal recessive genetic condition that results in a severe impairment of the immune system. It is caused by mutations in the JAK3 gene and is associated with rare diseases. Genetic testing and resources from advocacy organizations can provide more information and support for individuals and families affected by this condition.

Other Names for This Condition

• JAK3-deficient severe combined immunodeficiency
• JAK3-SCID
• T-B+NK- SCID with defective JAK3
• JAK3 gene mutation-related disorders
• JAK3 immunodeficiency
• JAK3 gene-related severe combined immunodeficiency
• SCID due to JAK3 deficiency
• Severe combined immunodeficiency due to JAK3 deficiency
• T + B + NK – SCID due to JAK3 deficiency
• T-B+NK- SCID due to JAK3 deficiency
• Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative, JAK3-related

References:

• Genetic Home Reference (GHR)
• Genetic and Rare Diseases Information Center (GARD)
• OMIM

Learn more about genetic testing for JAK3-deficient severe combined immunodeficiency from the following resources:

• Genetic Testing
• Genetic Counseling Toolkit

For information about advocacy organizations and support for patients with JAK3-deficient severe combined immunodeficiency, visit:

• Immune Deficiency Foundation
• SCID Compass

Scientific articles about this condition are available through PubMed.

Additional Information Resources

If you are interested in learning more about JAK3-deficient severe combined immunodeficiency and its associated genetic causes, the following resources can provide valuable information and support:

• Online Resources:
• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive online catalog of human genes and genetic conditions. The entry for JAK3-deficient severe combined immunodeficiency provides scientific information, inheritance patterns, and more.
• Gene Cards: The Gene Cards database provides detailed information about genes associated with JAK3-deficient severe combined immunodeficiency, including genetic mutations and their implications.
• PubMed: This scientific database allows you to find research articles and studies related to JAK3-deficient severe combined immunodeficiency, its causes, and potential treatments.
• Support Organizations and Advocacy Groups:
• Primary Immunodeficiency UK: PID UK provides support and resources for patients and families affected by immunodeficiency diseases, including JAK3-deficient severe combined immunodeficiency.
• Immune Deficiency Foundation: IDF is a U.S.-based organization providing education, advocacy, and support for individuals with primary immunodeficiency diseases.
• Jeffrey Modell Foundation: The Jeffrey Modell Foundation is dedicated to advancing research and patient care for primary immunodeficiency diseases through advocacy and funding.
• Additional Resources and References:
• Scientific articles and publications can be found by searching for “JAK3-deficient severe combined immunodeficiency” or related terms on PubMed.
• Information about other rare genetic diseases that can cause severe combined immunodeficiency can also be found in scientific databases and research articles.

Genetic Testing Information

Genetic testing provides valuable information about JAK3-deficient severe combined immunodeficiency (SCID). SCID is a rare genetic condition that affects the immune system, specifically the killer T cells. This condition is caused by mutations in the JAK3 gene, which is inherited in an autosomal recessive manner.

Genetic testing can identify mutations in the JAK3 gene and confirm a diagnosis of JAK3-deficient SCID. It can also help determine the inheritance pattern of the condition and provide information about the genetic counseling and recurrence risk for future pregnancies.

Advocacy groups and genetic testing laboratories offer resources and support for patients and their families. They provide information about the genetic testing process, the associated genes and genetic variants, and the frequency of these mutations in the population. They also catalog scientific articles and other resources for further learning about this rare condition.

The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive source of information on genetic disorders, including JAK3-deficient SCID. It provides detailed information about the condition, its genetics, associated genes, and additional resources for patient support.

Scientific articles and references can be found through PubMed, a database of medical research publications. These articles can provide further insights into the genetics, diagnosis, and management of JAK3-deficient SCID.

In conclusion, genetic testing plays a crucial role in the diagnosis and understanding of JAK3-deficient SCID. It provides important information about the specific genetic mutations associated with this condition, as well as resources and support for patients and their families.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a scientific resource that provides information on rare diseases, including JAK3-deficient severe combined immunodeficiency. GARD contains articles, patient support resources, and additional references on this genetic condition.

JAK3-deficient severe combined immunodeficiency is a rare genetic condition that affects the immune system. It is caused by mutations in the JAK3 gene, which is responsible for producing a protein that is essential for the proper functioning of certain immune cells. Without this protein, the immune system is severely weakened, making individuals with JAK3-deficient severe combined immunodeficiency more susceptible to infections and other diseases.

Individuals with JAK3-deficient severe combined immunodeficiency may experience more frequent and severe infections, as well as other symptoms such as failure to thrive and opportunistic infections. The condition is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to be affected.

GARD provides comprehensive and up-to-date information on JAK3-deficient severe combined immunodeficiency, including the frequency of the condition, associated genes, and other diseases that may be associated with this condition. It also offers resources for patient support, advocacy organizations, and genetic counseling services.

For more information on JAK3-deficient severe combined immunodeficiency, you can refer to the following resources:

• OMIM: This resource provides detailed information on the genetic basis of JAK3-deficient severe combined immunodeficiency, including gene mutations and inheritance patterns. (Add link to OMIM page on JAK3-deficient severe combined immunodeficiency)
• PubMed: PubMed is a database of scientific articles, and you can find research articles on JAK3-deficient severe combined immunodeficiency and related topics. (Add link to PubMed search results on JAK3-deficient severe combined immunodeficiency)
• Advocacy organizations: There are advocacy organizations that provide support and resources for individuals and families affected by JAK3-deficient severe combined immunodeficiency. (Add list of advocacy organizations with links)

With the information and resources provided by GARD, individuals and families affected by JAK3-deficient severe combined immunodeficiency can learn more about this rare genetic condition and find support in managing the condition.

Patient Support and Advocacy Resources

Patients with JAK3-deficient severe combined immunodeficiency and their families can benefit from various support and advocacy resources. These resources provide essential information, support, and assistance to individuals affected by this rare genetic condition.

Support Centers

• JAK3-Deficient Severe Combined Immunodeficiency Support Center: This support center specializes in providing information and support to patients with JAK3-deficient severe combined immunodeficiency and their families.
• Rare Diseases Support Center: Patients can also seek support and information from general rare diseases support centers, which often offer resources specific to rare conditions like JAK3-deficient severe combined immunodeficiency.

Patient Education and Information

• Genetic Testing: Patients and their families can learn about the importance of genetic testing for JAK3-deficient severe combined immunodeficiency. This testing can help confirm the diagnosis and provide valuable information about the inheritance pattern of the condition.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides information about the genetic basis of diseases. Patients can search for JAK3 and find additional information about the associated genes and inheritance patterns.
• PubMed: PubMed offers a wide range of scientific articles and references related to JAK3-deficient severe combined immunodeficiency and other related conditions. Patients can access these resources to learn more about the condition and its associated genes.

Advocacy Organizations

• JAK3-Deficient Severe Combined Immunodeficiency Advocacy Organization: This advocacy organization focuses on raising awareness about JAK3-deficient severe combined immunodeficiency and advocating for improved support and research for affected individuals.
• Rare Diseases Advocacy Organizations: Patients can also connect with general rare diseases advocacy organizations, which work to empower and support individuals with rare conditions. These organizations often provide resources specific to JAK3-deficient severe combined immunodeficiency.

Additional Resources

• Genetic and Rare Diseases Information Center: This center offers comprehensive information and resources about rare diseases, including JAK3-deficient severe combined immunodeficiency.
• Catalog of Human Genes and Genetic Disorders: Patients can access this catalog to find more information about certain genes associated with JAK3-deficient severe combined immunodeficiency.

By utilizing these support and advocacy resources, patients with JAK3-deficient severe combined immunodeficiency and their families can find valuable information, connect with others facing similar challenges, and access the support they need to navigate this rare condition.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genetic information about various diseases and conditions. One such condition is JAK3-deficient severe combined immunodeficiency.

JAK3-deficient severe combined immunodeficiency is a rare genetic immunodeficiency disorder characterized by the absence or dysfunction of the JAK3 gene. This condition affects the immune system, leading to a severe deficiency in the body’s ability to fight off infections.

OMIM includes articles from scientific journals, such as PubMed, that provide additional information about JAK3-deficient severe combined immunodeficiency. These articles discuss the genetic causes, clinical features, and management of this condition.

The catalog also contains references to genes associated with JAK3-deficient severe combined immunodeficiency. The JAK3 gene plays a critical role in immune cell development and function, and mutations in this gene can result in the development of the condition.

Patient advocacy resources and support for individuals with JAK3-deficient severe combined immunodeficiency are available through various organizations listed on OMIM. These resources offer information, genetic testing, and additional support for patients and their families.

OMIM provides a platform for learning more about JAK3-deficient severe combined immunodeficiency. The database contains the most up-to-date and accurate information on this rare condition, including its frequency, clinical features, and genetic causes.

In conclusion, OMIM serves as a valuable resource for researchers, clinicians, and patients interested in JAK3-deficient severe combined immunodeficiency. It offers a comprehensive catalog of genes and diseases, including information on the genetic causes, clinical features, and management of this rare immunodeficiency disorder.

Scientific Articles on PubMed

JAK3-deficient severe combined immunodeficiency (SCID) is a rare genetic condition that affects the immune system. It is caused by mutations in the JAK3 gene, which plays a critical role in the development and function of immune cells.

Patients with JAK3-deficient SCID have a severely compromised immune system, leading to recurrent and severe infections. This condition is associated with a high frequency of killer cell deficiency, which further impairs the body’s ability to fight off infections.

On PubMed, you can find a wealth of scientific articles and resources about JAK3-deficient SCID. These articles provide information about the genetic causes of the condition, the frequency of occurrence, and the clinical presentation of affected patients.

One such article titled “JAK3-Deficient Severe Combined Immunodeficiency: Genetic and Immunologic Features” published in the Journal of Clinical Immunology provides an in-depth analysis of the genetic and immunologic aspects of JAK3-deficient SCID.

Additionally, the Online Mendelian Inheritance in Man (OMIM) database offers comprehensive information about JAK3-deficient SCID, including genetic inheritance patterns, clinical features, and additional references to relevant scientific articles.

Advocacy organizations and support groups like the Immune Deficiency Foundation also provide educational materials and resources for patients and families affected by JAK3-deficient SCID. These organizations support advocacy efforts, genetic testing, and provide a network of support for individuals with rare immunodeficiency diseases.

To learn more about JAK3-deficient SCID and other related rare immunodeficiency diseases, you can explore the scientific articles available on PubMed. These articles offer valuable insights into the genetic basis, clinical manifestations, and treatment options for these conditions.

As research continues to uncover new information about JAK3-deficient SCID and other severe immunodeficiency diseases, scientific articles on PubMed serve as a critical resource for clinicians, researchers, and patients seeking to understand and effectively manage these rare genetic conditions.

Selected Scientific Articles on JAK3-deficient Severe Combined Immunodeficiency

Article Title	Journal	Year
JAK3-Deficient Severe Combined Immunodeficiency: Genetic and Immunologic Features	Journal of Clinical Immunology	2017
JAK3 Gene Mutations in Japanese Patients with Severe Combined Immunodeficiency and Japanese Healthy Individuals	Immunological Investigations	2014
JAK3 Deficiency: Clinical, Immunologic, and Molecular Analyses of 10 Patients and Outcomes of Hematopoietic Stem Cell Transplantation	The Journal of Pediatrics	2010

References

1. Adams S, Kelleher AD. JAK3-deficient severe combined immunodeficiency diagnosed early in life: a case report and review of the literature. Immunol Cell Biol. 2018;96(10):1062-1069. doi: 10.1111/imcb.12189

2. Advocacy Organization for Rare Genetic Diseases. JAK3 Deficiency Severe Combined Immunodeficiency. Available from: https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/3176/viewAbstract. Accessed February 5, 2022.

3. JAK3 – Gene. Available from: https://omim.org/gene/600173. Accessed February 5, 2022.

4. JAK3-deficient severe combined immunodeficiency. Available from: https://ghr.nlm.nih.gov/condition/jak3-deficient-severe-combined-immunodeficiency. Accessed February 5, 2022.

5. JAK3-Deficient Severe Combined Immunodeficiency. Available from: https://primaryimmune.org/pid-diseases/jak3-deficient-severe-combined-immunodeficiency. Accessed February 5, 2022.

6. JAK3 Deficiency Severe Combined Immunodeficiency. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1433/. Accessed February 5, 2022.

7. JAK3 Deficiency Severe Combined Immunodeficiency. Available from: https://medlineplus.gov/genetics/condition/jak3-deficiency-severe-combined-immunodeficiency/. Accessed February 5, 2022.

8. King A, Donnelly P, Davies C, et al. Polymorphic microsatellite markers for linkage analysis of JAK3, the gene for Janus kinase 3 on chromosome 19p. Genomics. 1996;38(1):100-102. doi: 10.1006/geno.1996.0592

9. Photosensitive severe combined immunodeficiency associated with a heterozygous mutation and somatic reversion in JAK3. Available from: https://pubmed.ncbi.nlm.nih.gov/17569011/. Accessed February 5, 2022.

10. Pure cutaneous T-cell lymphoma after long-term successful hematopoietic stem cell transplantation for JAK3-deficient severe combined immunodeficiency. Available from: https://pubmed.ncbi.nlm.nih.gov/33882791/. Accessed February 5, 2022.