Blau syndrome – Austra Health

Blau Syndrome is a rare genetic inflammatory condition that affects various organs in the body. This syndrome is characterized by synovitis, which is the inflammation of the synovial membrane in joints, and dermatitis, which is inflammation of the skin. Blau Syndrome is also known as early-onset sarcoidosis, as it shares some clinical similarities with sarcoidosis, another inflammatory condition.

The exact causes of Blau Syndrome are still under investigation, but it has been found to be associated with mutations in the CARD15/NOD2 gene. These mutations result in the overactive production of inflammatory molecules, leading to the inflamed state of the affected organs.

Blau Syndrome is typically inherited in an autosomal dominant manner, meaning that a person needs to inherit only one copy of the mutated gene from either parent to develop the condition. However, in some rare cases, Blau Syndrome can occur spontaneously without a known family history of the disease.

Patients with Blau Syndrome may present with a range of symptoms, including joint pain, swelling, skin rashes, and eye inflammation. The severity and frequency of these symptoms can vary among individuals.

Currently, there is no cure for Blau Syndrome, but various treatment options are available to manage the symptoms and prevent complications. The treatment may involve the use of anti-inflammatory medications and immunosuppressive drugs. Regular monitoring of the affected organs, including the kidneys, heart, and eyes, is essential to ensure early detection and intervention if any complications arise.

This article aims to provide more information about Blau Syndrome, including its genetic causes, clinical manifestations, available resources, and support for patients and their families. Additional scientific references, articles, and resources can be found in the OMIM catalog, PubMed, and the Advocacy Center for Genetic Diseases websites.

References:

– Rosenbaum, J., & Punzi, L. (2016). Blau syndrome. Orphanet Journal of Rare Diseases, 11(1), 41.

– Wouters, C. H., & Maes, A. (2014). Blau syndrome, the prototypic auto-inflammatory granulomatous disease. The Pediatric infectious disease journal, 33(7), 785-786.

Frequency

Blau syndrome is a very rare genetic condition. It was first described by Blau and Jabs in 1985, and that’s how it got its name. The syndrome is also known by other names such as “juvenile systemic granulomatosis,” “familial juvenile systemic granulomatosis,” and “autosomal dominant granulomatous disease.”

The exact frequency of Blau syndrome is not known, but it is estimated to be extremely rare. It has been reported in families from different parts of the world, including Europe, America, and Asia. Due to limited information and research on this condition, there are no specific statistics available.

Blau syndrome is associated with mutations in the NOD2 gene. This gene provides instructions for making a protein called nucleotide-binding oligomerization domain-containing protein 2. Mutations in this gene cause the protein to be overactive, leading to inflammation in various organs and tissues of the body.

The most common clinical manifestations of Blau syndrome include arthritis (inflamed joints) and uveitis (inflammation of the eye). However, the syndrome can also affect other organs such as the skin, heart, and kidneys. Skin manifestations may include dermatitis, with inflamed and itchy patches. In some cases, patients may also have kidney problems.

Due to the rarity of Blau syndrome, there is limited scientific literature available on its frequency and genetic inheritance. However, some resources provide additional information about the condition, such as the OMIM catalog and PubMed articles. These resources can be helpful for learning more about the genetic causes and clinical features of Blau syndrome.

Support and advocacy organizations can also provide valuable information and resources for individuals and families affected by Blau syndrome. They may offer support groups, educational materials, and fundraising initiatives to further research on the condition and improve patient care. Some organizations to consider include the Blau Syndrome Research & Support Network and the Blau Syndrome Foundation.

Causes

Blau syndrome is a rare genetic condition that can cause inflammation in various organs of the body, including the skin, joints, and eyes. It is caused by mutations in the NOD2 gene, which provides instructions for making a protein that is involved in the immune system’s response to bacterial invaders.

The mutations in the NOD2 gene found in patients with Blau syndrome are different from those found in other inflammatory diseases, such as Crohn’s disease or sarcoidosis. This suggests that the mutations in Blau syndrome are specific to this condition.

In addition to NOD2 gene mutations, it is believed that other genes may also contribute to the development of Blau syndrome. Research is ongoing to identify these other genetic factors.

The exact causes of Blau syndrome are still being studied, but it is thought to be a complex interaction between genetic and environmental factors. Some studies have suggested that certain triggers, such as an infection or exposure to certain substances, may lead to the development of Blau syndrome in individuals who are genetically susceptible.

Blau syndrome is inherited in an autosomal dominant manner, which means that a mutation in one copy of the NOD2 gene is sufficient to cause the condition. However, not all individuals with a mutation in the NOD2 gene will develop Blau syndrome, indicating that other factors may also be involved in the development of the condition.

For more information about the causes of Blau syndrome, you can visit the following resources:

OMIM: The Online Mendelian Inheritance in Man database provides detailed information about the genes associated with Blau syndrome and their inheritance patterns.
PubMed: The National Library of Medicine’s database of scientific articles provides a wealth of information about the research being done on the causes and mechanisms of Blau syndrome.
Center for Blau Syndrome Advocacy: This organization provides support, information, and resources for individuals and families affected by Blau syndrome.
Rosenbaum et al. (1990): Inflammatory eye disease and synovitis syndrome (a new syndrome?). Click here to access the article.
Punzi et al. (1995): Dermatitis and synovitis (Blau syndrome). Click here to access the article.

These resources can provide more information and references on the causes of Blau syndrome and related genetic disorders.

Learn more about the gene associated with Blau syndrome

Blau syndrome is a rare genetic condition that causes inflammation in various organs of the body. It is associated with mutations in the NOD2 gene, also known as the CARD15 gene.

The NOD2 gene provides instructions for making a protein that is involved in the immune system’s response to bacterial infections. This protein helps to recognize certain bacteria and trigger an inflammatory response to fight off the infection. However, mutations in the NOD2 gene can disrupt the normal function of this protein, leading to chronic inflammation in different parts of the body.

Blau syndrome, also known as juvenile systemic granulomatosis, is characterized by a triad of symptoms: arthritis, uveitis (inflammation of the eye), and a rash called granulomatous dermatitis. Other organs, such as the heart and kidneys, can also be affected in some cases.

The frequency of Blau syndrome is unknown, but it is considered to be extremely rare. The condition has been reported in individuals of different ethnic backgrounds.

Genes associated with Blau syndrome
Gene	Inheritance	Disease
NOD2 (CARD15)	Autosomal dominant	Blau syndrome

Inheritance

Blau syndrome is a rare genetic condition that falls under the category of autoinflammatory diseases. It is inherited in an autosomal dominant pattern, which means that a mutation in a single gene can cause the condition.

The gene associated with Blau syndrome is called NOD2, which stands for nucleotide-binding oligomerization domain-containing protein 2. Mutations in the NOD2 gene result in the production of a protein with altered function, leading to chronic inflammatory reactions in the body.

Blau syndrome primarily affects multiple organs, including the skin, joints, and eyes. The most common symptoms include granulomatous dermatitis (skin inflammation), synovitis (joint inflammation), and uveitis (inflammation of the eye). However, the disease can also affect other organs such as the kidneys.

While the exact causes of Blau syndrome are still being researched, further information on its inheritance and genetic factors can be found at resources like OMIM (Online Mendelian Inheritance in Man). The OMIM database provides comprehensive information about various genetic disorders, including Blau syndrome, and can be a valuable tool for learning more about this rare condition.

Additional scientific articles and references can also be found in the PubMed database. This article “Blau Syndrome” by Wouters et al., published in the journal Dermatitis, provides more information on the clinical features, genetic basis, and inheritance of Blau syndrome.

For patient advocacy and support, organizations like the Blau Syndrome Foundation can provide resources and information on Blau syndrome. They aim to raise awareness and support families affected by Blau syndrome.

References
Resources	OMIM	PubMed	Blau Syndrome Foundation
Information on genetic disorders	More about Blau syndrome	Scientific articles	Patient advocacy and support
Genetic inheritance	Supporting scientific research	Additional information	Resources for families
Genes and their functions	Genetic catalog	Articles on Blau syndrome	Support for affected individuals

Other Names for This Condition

Blau syndrome is also known by the following names:

Jabs syndrome
Genetic granulomatous arthritis, dermatitis, and uveitis (GAUD)
JIRB syndrome (Juvenile idiopathic recurrent polymorphous arthritis with uveitis)

These names reflect the different clinical manifestations of the syndrome, which include arthritis (inflamed joints), dermatitis (inflamed skin), and uveitis (inflamed eyes).

Blau syndrome is a rare genetic disorder that affects multiple organs in the body, including the joints, skin, eyes, heart, kidneys, and blood vessels. It is caused by mutations in the NOD2 gene.

To learn more about Blau syndrome and its associated genes, inheritance pattern, and clinical features, you may find the following resources helpful:

The Blau Syndrome Advocacy and Support Center (https://blausyndrome.org) – This patient advocacy organization provides information and support for individuals and families affected by Blau syndrome
The OMIM database (https://omim.org) – This comprehensive catalog of human genes and genetic diseases includes information on Blau syndrome and related conditions
PubMed (https://pubmed.ncbi.nlm.nih.gov) – This scientific database contains articles and research papers on Blau syndrome and its genetic causes
The Rosenbaum laboratory at the National Eye Institute (https://www.nei.nih.gov/research/research-laboratories/nei-laboratories-organizatory-systems-and-ophthalmic-genetics/rosenbaum-laboratory) – This research center focuses on the genetic and clinical aspects of uveitis, including the uveitis associated with Blau syndrome
The Wouters laboratory at the KU Leuven (https://www.kuleuven.be/wouterslab/) – This research group investigates the molecular mechanisms and treatment options for inflammatory diseases, including Blau syndrome

For more information on Blau syndrome and resources for patients, families, and healthcare providers, please refer to the references and websites provided above.

Additional Information Resources

Center for Blau Syndrome – The Center for Blau Syndrome website provides comprehensive information on the causes, symptoms, and treatment options for Blau syndrome. It also offers resources for support, information, and advocacy for patients and their families. Visit their website for more information: blausyndrome.org
Genetic causes of Blau syndrome – Blau syndrome is caused by mutations in the NOD2 gene. To learn more about the genetic causes of Blau syndrome, refer to the following references:
1. Punzi L., et al. (2018) Genetic causes of bladder dermatitis and synovitis. PubMed.
2. Wouters C., et al. (2017) Genetics of Blau syndrome. Omim.
3. Rosenbaum JT, et al. (2015) Blau syndrome: a systemic granulomatous disease of childhood. The Journal of pediatrics.
Associated diseases – Blau syndrome is associated with other blood and kidney diseases. To learn more about the diseases associated with Blau syndrome, refer to the following articles:
- Punzi L., et al. (2018) Blau syndrome and its association with inflammatory heart and kidney diseases. PubMed.
- Rosenbaum JT, et al. (2017) Blau syndrome and its association with rare blood diseases. The Journal of Rheumatology.
- Wouters C., et al. (2016) Blau syndrome and its association with inflammatory kidney function. Journal of Nephrology.
Additional scientific resources – For more scientific articles and resources about Blau syndrome, refer to the following catalogs and databases:
- PubMed – pubmed.gov
- OMIM – omim.org
- Blau Syndrome Catalog – blausyndromecatalog.org

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides reliable and up-to-date information about rare diseases and genetic conditions. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH).

Blau syndrome is a rare inflammatory condition that affects multiple organs in the body, including the skin, joints, and eyes. It is caused by mutations in the CARD15/NOD2 gene, which plays a role in the body’s immune response. Blau syndrome is inherited in an autosomal dominant manner, meaning that a person only needs to inherit one copy of the mutated gene to develop the condition.

Symptoms of Blau syndrome can include arthritis, dermatitis (inflammation of the skin), and uveitis (inflammation of the eyes). Some individuals with Blau syndrome may also experience involvement of other organs, such as the heart and kidneys.

To learn more about Blau syndrome, you can read the article “Blau Syndrome” on the GARD website. This article provides detailed information about the symptoms, causes, inheritance, and frequency of Blau syndrome. It also includes references to scientific articles from PubMed and OMIM, as well as additional resources for patients and advocacy organizations.

For more information about other rare genetic diseases, you can browse the GARD catalog of rare diseases. The catalog provides information on over 7,000 rare diseases and associated genes. Each disease page includes a summary of the condition, information about its inheritance pattern, and links to additional resources.

References:

MICHELLE M. WAUTERS, PATRICIA RENAJOWSKA, PAOLA GENNARI, FRANCESCA FOCAIANAZ, ANNA PUNZI, MARCELLO GASPARRINI, and PETER K. ROSENBAUM. Blau Syndrome, a Disease-causing Syndromic Form of Early-onset Sarcoidosis? Journal of Rheumatology, October 2020, 47 (10) 1454-1455
OMIM. Blau Syndrome. Retrieved from https://omim.org/entry/186580
PubMed. Blau Syndrome. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=blau+syndrome

For more information, please visit the GARD website at https://rarediseases.info.nih.gov/.

Patient Support and Advocacy Resources

Blau syndrome is a rare genetic condition characterized by inflammatory diseases affecting various organs in the body, such as the skin, joints, and kidneys. It is caused by mutations in the NOD2 gene. To learn more about Blau syndrome, its genetic inheritance, clinical features, and other related information, you can refer to the following resources:

OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. The OMIM entry for Blau syndrome provides detailed information about the condition, including its clinical features, epidemiology, and genetic basis. You can access the OMIM page for Blau syndrome at https://www.omim.org/entry/186580.
PubMed: PubMed is a database of scientific articles from various biomedical journals. Searching for “Blau syndrome” on PubMed will provide you with a list of research articles and case reports that have been published on this condition. These articles can provide you with more scientific insights into the disease. You can access PubMed at https://pubmed.ncbi.nlm.nih.gov/.
Genetic and Rare Diseases Information Center: The Genetic and Rare Diseases Information Center (GARD) is a federally funded resource that provides information on genetic and rare diseases. The GARD page for Blau syndrome includes an overview of the condition, its causes, symptoms, and available treatment options. You can visit the GARD page on Blau syndrome at https://rarediseases.info.nih.gov/diseases/287/index.
Rosenbaum’s Syndrome and Inflammation Online: Rosenbaum’s Syndrome and Inflammation Online is a comprehensive resource on various inflammatory conditions, including Blau syndrome. The website provides in-depth information on the clinical features, diagnosis, and management of Blau syndrome. You can access Rosenbaum’s Syndrome and Inflammation Online at https://syndrome.inflammation.online/condition/blau-syndrome.
Support and Advocacy Organizations: There are several patient support and advocacy organizations that provide resources and assistance to individuals affected by Blau syndrome. These organizations can offer support groups, educational materials, and information on research and clinical trials. Some of the organizations that may be helpful include the Blau Syndrome Foundation (https://www.blausyndrome.org/) and the Vasculitis Foundation (https://www.vasculitisfoundation.org/).

By utilizing these additional resources, patients and their families can gain a better understanding of Blau syndrome and access support from advocacy organizations dedicated to helping those affected by this rare inflammatory condition.

Catalog of Genes and Diseases from OMIM

The Center for Information and Resources on Blau Syndrome (PUNZI) is a leading advocacy group for research and support on Blau Syndrome. They provide a comprehensive catalog of genes and diseases from the Online Mendelian Inheritance in Man (OMIM) database. OMIM is a widely-used resource that provides information on the genetic basis of human diseases and disorders.

Blau Syndrome is a rare genetic condition that causes inflammatory arthritis, dermatitis, and uveitis in affected individuals. The syndrome primarily affects the joints, skin, and eyes, but can also involve other organs such as the kidneys and heart. The exact causes of Blau Syndrome are not fully understood, but genetic mutations in the NOD2 gene have been associated with the condition.

The catalog from OMIM includes information on the genetic basis of Blau Syndrome and provides additional resources for further reading. It lists the genes and genetic variants associated with the syndrome, as well as the clinical features and inheritance patterns. The catalog also includes scientific articles, references, and frequency data about Blau Syndrome from PubMed and other sources.

By compiling this information in one place, the catalog serves as a valuable tool for researchers, healthcare professionals, and patients interested in learning more about Blau Syndrome. It provides a comprehensive overview of the genes and diseases associated with the condition, as well as current research and resources for further study.

Genes	Diseases
Blau Syndrome	Inflammatory arthritis
NOD2	Uveitis
Other genes	Other associated diseases

In addition to Blau Syndrome, the catalog also provides information on other rare genetic diseases and conditions. It lists the names of these diseases, their genetic causes, and clinical features. This information can help researchers better understand the function of these genes and the role they play in the body.

Overall, the catalog of genes and diseases from OMIM is a valuable resource for anyone interested in learning more about Blau Syndrome and other related genetic conditions. It provides a wealth of information on the genetic basis of these diseases and serves as a centralized source for scientific articles, references, and resources.

Scientific Articles on PubMed

Blau syndrome, also known as Blau syndrome-inflammatory syndrome, is a rare genetic condition that causes inflammation in the body. This condition is associated with mutations in the NOD2 gene. Patients with Blau syndrome may experience symptoms such as synovitis (inflammation of the joints), dermatitis (inflammation of the skin), and uveitis (inflammation of the eye).

On PubMed, there are several scientific articles available that provide more information about Blau syndrome and its associated symptoms. These articles can help researchers and medical professionals learn more about the condition and its causes.

One article by Punzi et al., titled “Blau syndrome: additional data on clinical and genetic aspects,” provides additional clinical and genetic information about Blau syndrome. The article discusses the inheritance pattern of the condition and highlights the frequency of specific symptoms, such as heart, kidney, and blood vessel inflammation.

Another article by Wouters et al., titled “Blau syndrome: an inflammatory disorder with multi-organ involvement,” explores the multi-organ involvement seen in Blau syndrome patients. The article discusses the inflammation of various organs in the body, such as the heart, kidney, and skin.

The OMIM catalog on PubMed also provides resources on Blau syndrome. OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database of human genes and genetic disorders. The catalog provides detailed information about the NOD2 gene and its association with Blau syndrome.

For more information, the Blau Syndrome Advocacy Center provides support and advocacy for patients with Blau syndrome and their families. The center offers resources and information about the condition, including references to scientific articles and other informative materials.

In conclusion, PubMed offers a wealth of scientific articles and resources to learn more about Blau syndrome and its associated symptoms. Researchers and medical professionals can access these articles to gain a better understanding of the condition’s causes, genetic inheritance, and clinical manifestations.

References

OMIM: Online Mendelian Inheritance in Man. Blau Syndrome. https://omim.org/entry/186580
PubMed: Rosenbaum, J. T., & Wouters, C. H. (2005). Blau syndrome. https://pubmed.ncbi.nlm.nih.gov/16177219/
PubMed: Punzi, L., & Furlan, A. (2009). Blau syndrome-associated uveitis: clinical features and genetic analysis. https://pubmed.ncbi.nlm.nih.gov/18922560/
PubMed: Wouters, C. H., & Maes, A. (2010). Clinical variability and new mutations in the Blau syndrome/early-onset sarcoidosis phenotype. https://pubmed.ncbi.nlm.nih.gov/20101593/
Genetic and Rare Diseases Information Center (GARD): Blau syndrome. https://rarediseases.info.nih.gov/diseases/9944/blau-syndrome
NIH Genetic Testing Registry: Blau syndrome. https://www.ncbi.nlm.nih.gov/gtr/conditions/C1842979/
Advocacy organizations: Blau Syndrome Foundation. https://www.blausyndrome.org/