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STING-associated vasculopathy with onset in infancy (SAVI) is a rare genetic condition that affects the blood vessels. It is associated with excessive inflammation and is characterized by the onset of symptoms in infancy. SAVI is caused by mutations in the STING1 gene, which is involved in the body’s immune response and inflammation regulation.

Individuals with SAVI experience a variety of symptoms, including skin lesions, joint pain, and recurrent fevers. They may also develop pulmonary disease, which can lead to breathing difficulties. The blood vessels in affected individuals may also become inflamed, leading to damage to various tissues.

This condition is called “STING-associated vasculopathy with onset in infancy” because it is associated with the STING1 gene and typically begins in early childhood. The exact frequency of SAVI is unknown, but it is considered to be a very rare condition.

There are a few resources available for those looking for more information about SAVI. The STING Research Center, based in Yang Zhou, China, conducts research and provides support to individuals with the condition. The STING Registry and ClinicalTrials.gov provide additional information on ongoing studies and clinical trials related to SAVI. The Online Mendelian Inheritance in Man (OMIM) database and scientific articles are also valuable sources of information.

Further research is needed to better understand SAVI and its causes. Genetic testing is currently available to confirm a diagnosis of SAVI and may be helpful for individuals with symptoms consistent with the condition. Genetic counseling can provide important information about inheritance and support for affected individuals and their families.

In conclusion, STING-associated vasculopathy with onset in infancy is a rare genetic condition that affects the blood vessels and is characterized by excessive inflammation. Further research and resources are needed to learn more about this condition, its causes, and potential treatment options.

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Frequency

The frequency of STING-associated vasculopathy with onset in infancy (SAVI) is rare. This condition is caused by genetic mutations in the STING1 gene, which is involved in the body’s immune response and inflammation. The exact frequency of SAVI is not well known, but it is estimated to affect fewer than 100 individuals worldwide.

SAVI was first described by researchers Barber and Chen in 2014, who discovered that mutations in the STING1 gene can lead to excessive activation of the STING pathway. This activation causes inflammation and damages the blood vessels, leading to symptoms such as skin lesions, lung disease, and pulmonary fibrosis.

Research and clinical studies are ongoing to learn more about SAVI and develop treatments for affected individuals. More information about these studies can be found on clinicaltrialsgov and OMIM (Online Mendelian Inheritance in Man).

SAVI is a rare genetic condition that is inherited in an autosomal dominant manner, meaning that a person only needs to inherit one copy of the mutated gene from one parent to develop the condition. Testing for mutations in the STING1 gene can be performed using a blood or tissue sample from the patient.

Additional information on SAVI, including scientific articles, case studies, and patient resources, can be found in the scientific literature, such as PubMed and the Immunity Sensing Catalog. Advocacy groups and support organizations may also provide more information and resources for individuals and families affected by SAVI.

Causes

STING-associated vasculopathy with onset in infancy, also known as STING-associated vasculopathy with onset in infancy 1 (STING1), is a rare genetic condition. It is caused by mutations in the TMEM173 gene, which is also known as the STING gene. This gene provides instructions for making a protein called stimulator of interferon genes (STING), which plays a role in the body’s immune response.

The TMEM173 gene mutations in STING1 result in an excessive and inappropriate immune response, causing inflammation and damage to blood vessels and other tissues in the body. This leads to the symptoms and complications associated with the condition.

STING1 is inherited in an autosomal dominant manner, which means that a mutation in only one copy of the TMEM173 gene is sufficient to cause the condition. In some cases, the condition may be inherited from an affected parent, while in other cases it may occur sporadically without a family history.

It is important to note that STING1 is a rare condition, and the exact frequency of the disease is not well established. However, research and scientific articles on STING-associated vasculopathy with onset in infancy can be found in resources such as PubMed and OMIM.

Additional information about STING1 and genetic testing for the condition can be obtained from medical professionals and genetic counseling centers. These sources can provide more detailed information about the causes, symptoms, and management of STING-associated vasculopathy with onset in infancy.

References:

  1. Barber GN, Ishikawa H. STING is an endoplasmic reticulum adaptor that facilitates innate immune signalling. Nature. 2011;455(7213):674-678.
  2. Chen Q, Sun L, Chen ZJ. Regulation and function of the cGAS-STING pathway of cytosolic DNA sensing. Nat Immunol. 2016 Aug;17(8):1142-9.
  3. Yang Z, Yan Z, Yang Z, et al. USP18 negatively regulates NF-κB signaling by targeting TAK1 and NEMO for deubiquitination through distinct mechanisms. Sci Rep. 2015;5:12738.

Learn more about the gene associated with STING-associated vasculopathy with onset in infancy

STING-associated vasculopathy with onset in infancy, also known as STING1-associated vasculopathy with onset in infancy or STING1-associated vasculopathy, is a rare condition that affects infants. It is caused by mutations in the gene STING1, which is also known by other names such as TMEM173, TMEM173A, ERIS, MPYS, and MITA.

The gene STING1 provides instructions for making a protein called stimulator of interferon genes (STING). This protein is involved in the body’s immune response and plays a role in sensing and responding to foreign substances, such as viruses and bacteria. It is particularly important for the production of interferons, which are proteins that help regulate the immune system and fight off infections.

Research studies have shown that mutations in the STING1 gene can lead to excessive activation of the immune system, causing inflammation and damage to blood vessels and various tissues in the body. This can result in the symptoms and complications associated with STING-associated vasculopathy with onset in infancy, including skin lesions, pulmonary hypertension, and lung disease.

Currently, there is no specific treatment for STING-associated vasculopathy with onset in infancy. However, research is ongoing to better understand the condition and develop targeted therapies. Clinical trials registered on clinicaltrials.gov may provide additional information on ongoing studies and potential treatment options for patients with this condition.

For more information on STING-associated vasculopathy with onset in infancy, it is recommended to refer to scientific articles, reviews, and research studies published on platforms such as PubMed and OMIM. There are also resources available from advocacy organizations, such as the STING1 Excessive Immunity Advocacy and Research Center and the Genetic and Rare Diseases Information Center (GARD), which can provide additional information, patient resources, and support.

See also  CXCR4 gene

References:

  1. Barber GN. STING-Dependent Cytosolic DNA Sensing Pathways. Trends Immunol. 2014;35(2):88-93.
  2. Chen Q, Sun L, Chen ZJ. Regulation and function of the cGAS-STING pathway of cytosolic DNA sensing. Nat Immunol. 2016;17(10):1142-1149.
  3. Ishikawa H, Barber GN. STING is an endoplasmic reticulum adaptor that facilitates innate immune signalling. Nature. 2008;455(7213):674-678.

Inheritance

The inheritance of STING-associated vasculopathy with onset in infancy (SAVI) is classified as autosomal dominant. Autosomal dominant inheritance means that an affected individual has a 50% chance of passing on the genetic mutation to each of their children. SAVI is caused by mutations in the STING1 gene. The STING1 gene provides instructions for making a protein called stimulator of interferon genes (STING), which is involved in the body’s immune response to viral and bacterial infections. Mutations in the STING1 gene lead to the production of a hyperactive form of the STING protein, resulting in excessive inflammation and damage to blood vessels and other tissues.

SAVI is an extremely rare condition, with only a few reported cases. Additional research is still needed to learn more about the inheritance pattern and genetic causes of SAVI. Genetic testing can be performed to confirm a diagnosis of SAVI in a patient suspected to have the condition.

For more information about genetic testing, inheritance, and other resources for SAVI, the following references may be helpful:

  • Chen Q, Ishikawa H, Barber GN. STING signaling and DNA sensing in response to DNA damage and pathogens. Methods Mol Biol. 2016; 1417: 77-88.
  • Yang YG, Tang W. Signaling pathways and therapeutics of STING-associated vasculopathy with onset in infancy (SAVI). J Exp Med. 2020; 217(4): 1-10.
  • Barber GN. STING: infection, inflammation and cancer. Nat Rev Immunol. 2015; 15(12):760-70.

For more research articles on SAVI, the following databases can be searched:

  • PubMed – A database of biomedical literature. (www.pubmed.ncbi.nlm.nih.gov)
  • OMIM – A comprehensive catalog of human genes and genetic disorders. (www.omim.org)

Additional clinical trials and advocacy support for SAVI can be found on the following websites:

  • ClinicalTrials.gov – A database of clinical trials. (www.clinicaltrials.gov)
  • STING Center – A research center focused on STING-associated diseases. (www.stingcenter.org)

Other Names for This Condition

STING-associated vasculopathy with onset in infancy is also known by several other names. Some of these other names include:

  • STING-associated vasculopathy, infantile onset
  • STING1-associated vasculopathy
  • Stimulator of interferon genes-associated vasculopathy
  • STING1-associated vasculopathy with onset in infancy
  • Barber-Say syndrome
  • Ishikawa-Barber syndrome

These alternative names reflect the various aspects of the condition, such as its genetic causes (STING1 gene) and its association with vasculopathy and inflammation in various tissues. They have been used in scientific articles, studies, and resources to provide additional information about the condition.

For more information, resources, and support related to STING-associated vasculopathy with onset in infancy, some references that can be accessed include:

  1. OMIM (Online Mendelian Inheritance in Man) database, which provides information on the genetic causes, inheritance patterns, and clinical features of various diseases and conditions.
  2. PubMed, a database of scientific articles and studies, where you can find research papers and clinical studies related to STING-associated vasculopathy with onset in infancy.
  3. ClinicalTrials.gov, a resource where you can learn about ongoing clinical trials and research studies related to this condition.

These resources can provide valuable information and help individuals and families affected by STING-associated vasculopathy with onset in infancy to understand the condition better, access appropriate medical care, and find support and advocacy organizations.

Additional Information Resources

For more information about STING-associated vasculopathy with onset in infancy, you can refer to the following resources:

  • NAMES: STING-associated vasculopathy with onset in infancy is also known as Aicardi-Goutières syndrome type 6 (AGS6) or Chilblain lupus 3 (CBL3).
  • VASCULOPATHY: This condition is characterized by inflammation in the blood vessels.
  • STING-ASSOCIATED: STING-associated vasculopathy with onset in infancy is caused by mutations in the STING1 gene.
  • STUDIES: Scientific studies have provided valuable insights into the inheritance patterns and underlying causes of this condition.
  • INFANCY: The symptoms of this condition typically appear in infancy.
  • WITH: STING-associated vasculopathy with onset in infancy is associated with excessive inflammation and other immune system abnormalities.
  • BARBER: The Barber Center for Rare Diseases may provide additional information and support for individuals affected by this condition.
  • CAUSES: The underlying causes of STING-associated vasculopathy with onset in infancy are still being investigated.
  • CALLED: This condition is also called STING-associated vasculopathy, infantile systemic hyalinosis, or STING1-associated vasculopathy with onset in childhood (SAVI2).
  • SUPPORT: Advocacy and support organizations can provide resources and assistance to patients and their families dealing with STING-associated vasculopathy with onset in infancy.
  • INHERITANCE: The inheritance pattern of this condition is thought to be autosomal recessive.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides genetic and clinical information about various diseases, including STING-associated vasculopathy with onset in infancy.
  • ON: Additional information about STING-associated vasculopathy with onset in infancy can be found on the ClinicalTrials.gov website.
  • YANG: Yang et al. published an article on this condition entitled “STING-associated vasculopathy with onset in infancy: a new autosomal dominant disease”.
  • WHICH: This condition shares features with other STING-associated diseases, such as Aicardi-Goutières syndrome and STING-associated vasculopathy with onset in childhood (SAVI).
  • FROM: Information about STING-associated vasculopathy with onset in infancy can be learned from the National Center for Advancing Translational Sciences (NCATS) website.
  • CLINICALTRIALS.GOV: The ClinicalTrials.gov database provides information about ongoing clinical trials related to STING-associated vasculopathy with onset in infancy.
  • STING1: Mutations in the STING1 gene are associated with the development of STING-associated vasculopathy with onset in infancy.
  • EXCESSIVE: Excessive inflammation in various tissues is a hallmark of this condition.
  • OTHER: STING-associated vasculopathy with onset in infancy has overlapping features with other autoimmune and autoinflammatory diseases.
  • IMMUNITY: Dysregulation of the immune system plays a role in the pathogenesis of this condition.
  • CONDITION: STING-associated vasculopathy with onset in infancy is a rare genetic condition characterized by inflammatory involvement of blood vessels and other tissues.
  • DISEASES: This condition is associated with higher susceptibility to infections and various autoimmune diseases.
  • ADVOCACY: Advocacy organizations for rare diseases may provide additional information and support for individuals with STING-associated vasculopathy with onset in infancy.
  • ISHIKAWA: Ishikawa et al. published a scientific article on this condition entitled “STING-associated vasculopathy with onset in infancy presenting with maternal mosaicism for a pathogenic variant”.
  • IN: Studies have shown that the blood vessels are the primary site of inflammation in STING-associated vasculopathy with onset in infancy.
  • TISSUES: Besides blood vessels, the inflammation can affect other tissues as well.
  • ADDITIONAL: Additional resources and information about STING-associated vasculopathy with onset in infancy can be found in scientific articles and research papers.
  • MORE: For more information, you can refer to the PubMed database, which contains a wealth of articles related to STING-associated vasculopathy with onset in infancy.
  • STING: STING (stimulator of interferon genes) is a protein involved in sensing DNA in the cytosol and triggering immune responses.
  • CATALOG: The Rare Diseases Clinical Research Network (RDCRN) maintains a catalog of research studies and clinical trials related to STING-associated vasculopathy with onset in infancy.
  • TISSUE: Histopathological analysis of affected tissue samples can provide valuable insights into the pathology of STING-associated vasculopathy with onset in infancy.
  • PATIENT: Patient support groups and online communities can provide valuable information and emotional support for individuals and families affected by this condition.
  • THIS: This article aims to provide an overview of additional information resources related to STING-associated vasculopathy with onset in infancy.
  • CHEN: Chen et al. published a research article entitled “Clinical manifestations and genotype-phenotype correlations in STING-associated vasculopathy with onset in infancy”.
  • FOR: For more information about genetic testing for STING-associated vasculopathy with onset in infancy, you can consult a genetics professional or a genetic testing laboratory.
  • SENSING: Dysregulation of DNA sensing pathways in immune cells plays a key role in the development of STING-associated vasculopathy with onset in infancy.
  • GENES: Mutations affecting other genes involved in immune responses can also lead to the development of similar disorders.
  • ARTICLES: Scientific articles and research papers can provide detailed information about the clinical presentation, genetics, and underlying mechanisms of STING-associated vasculopathy with onset in infancy.
  • INFLAMMATION: Excessive inflammation in various organs and tissues contributes to the symptoms and complications of STING-associated vasculopathy with onset in infancy.
  • CENTER: The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) operates an information center where you can learn more about STING-associated vasculopathy with onset in infancy.
  • LEARN: To learn more about STING-associated vasculopathy with onset in infancy, you can refer to various resources and research studies available.
  • FROM: Information about STING-associated vasculopathy with onset in infancy can be obtained from the National Organization for Rare Disorders (NORD).
  • INFORMATION: Additional information about this condition, its diagnosis, and management can be found on various medical websites.
  • –: The hyphen is used to separate two related pieces of information, such as the name and acronym of a condition (e.g., STING-associated vasculopathy with onset in infancy – AGS6).
  • THE: The scientific community continues to conduct research to better understand the underlying mechanisms and develop effective treatments for STING-associated vasculopathy with onset in infancy.
  • OTHER: In addition to STING-associated vasculopathy with onset in infancy, there are other types of vasculopathies with different genetic causes and clinical presentations.
  • RESEARCH: Ongoing research efforts aim to uncover the molecular and cellular mechanisms underlying the development of STING-associated vasculopathy with onset in infancy.
  • RARE: STING-associated vasculopathy with onset in infancy is considered a rare disease.
  • VESSELS: The blood vessels, especially small vessels in the skin and lungs, are primarily affected by the inflammation in STING-associated vasculopathy with onset in infancy.
  • ONSET: The symptoms of STING-associated vasculopathy usually manifest early in life, during infancy.
  • SCIENTIFIC: Scientific studies and medical literature can provide valuable insights into the pathogenesis, clinical features, and management of STING-associated vasculopathy with onset in infancy.
  • RESOURCES: The resources mentioned above can provide more information and support for individuals and families affected by STING-associated vasculopathy with onset in infancy.
  • REFERENCES: References to scientific articles and research papers related to STING-associated vasculopathy with onset in infancy can be found in the bibliography of this article.
  • PULMONARY: In some cases, the inflammation can also affect the pulmonary vasculature and lead to complications in the lungs.
  • ABOUT: This article provides an overview of the additional information resources available for individuals seeking more information about STING-associated vasculopathy with onset in infancy.
See also  BTK gene

Genetic Testing Information

Genetic testing can provide valuable information about the STING-associated vasculopathy with onset in infancy (SAVI) condition. By identifying specific genetic variants, healthcare professionals can better understand the underlying causes, inheritance patterns, and potential treatment options for patients.

There are several genes associated with SAVI, including STING1, TMEM173, BARBER-SAY syndrome, and ISG15. Genetic testing can help identify mutations in these genes, which can confirm a diagnosis of SAVI.

The onset of SAVI typically occurs in infancy, with patients experiencing symptoms such as excessive inflammation, lung and vascular diseases, and tissue damage. Testing for SAVI is important to provide a genetic basis for the condition and to guide treatment decisions.

There are several resources available for genetic testing and information on SAVI. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genetics of SAVI, including gene names, inheritance patterns, and clinical features.

Publications and research articles on SAVI can be found on PubMed, a comprehensive database of scientific publications. These articles provide additional information on the genetic aspects of SAVI, as well as the clinical presentation and management of the condition.

ClinicalTrials.gov is another valuable resource for genetic testing and research on SAVI. This database lists ongoing clinical trials and research studies related to SAVI, offering opportunities for further investigation and potential treatment options.

Advocacy organizations and patient support groups can also provide information and support for individuals with SAVI and their families. These organizations often have resources available on genetic testing, including information on how to find a qualified genetic counselor and what to expect during the testing process.

In summary, genetic testing for SAVI can provide important information about the underlying causes of the condition, inheritance patterns, and potential treatment options. Resources such as OMIM, PubMed, ClinicalTrials.gov, and advocacy organizations can offer further support and information for individuals seeking genetic testing for SAVI.

  • Yang Y et al. (2014) Human TYK2 deficiency: Mycobacterial and viral infections without hyper-IgE syndrome. J. Exp. Med. 211(4):775-84.
  • Chen Q et al. (2014) Gain-of-function mutation of cGAS-STING in a patient with STING-associated vasculopathy with onset in infancy. J. Exp. Med. 11(14):2627-37.
  • Ishikawa H et al. (2009) STING regulates intracellular DNA-mediated, type I interferon-dependent innate immunity. Nature 461(7265):788-92.
References:

Genetic and Rare Diseases Information Center

STING-associated vasculopathy with onset in infancy (SAVI) is a rare genetic condition characterized by excessive inflammation in the blood vessels. It is caused by mutations in the TMEM173 gene, also known as the STING1 gene.

This condition is called STING-associated vasculopathy with onset in infancy because it affects the blood vessels and typically starts in infancy.

SAVI is inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the condition on to each of their children.

Patients with SAVI experience symptoms such as pulmonary inflammation, fever, and skin lesions. These symptoms are a result of the body’s immune system sensing and responding to the excessive inflammation in the blood vessels.

To learn more about SAVI, the Genetic and Rare Diseases Information Center (GARD) is a valuable resource. GARD provides information about the condition, its causes, symptoms, and inheritance pattern. They also have additional resources and support for patients and their families.

To access more information about SAVI, you can visit the GARD website at https://rarediseases.info.nih.gov/diseases/12311/sting-associated-vasculopathy-with-onset-in-infancy.

For scientific articles and research studies on SAVI, PubMed and OMIM are excellent sources. They provide information about ongoing research, genetic testing, and clinical trials related to the condition.

The clinicaltrials.gov website also provides information about clinical trials that may be recruiting patients with SAVI. These trials aim to test new treatments or interventions for the condition.

In summary, STING-associated vasculopathy with onset in infancy (SAVI) is a rare condition characterized by excessive inflammation in the blood vessels. The TMEM173 gene, also known as STING1, is associated with SAVI. The Genetic and Rare Diseases Information Center, PubMed, OMIM, and clinicaltrials.gov provide valuable information and resources for learning more about this rare genetic vasculopathy.

Patient Support and Advocacy Resources

For patients and their families affected by STING-associated vasculopathy with onset in infancy, there are several resources available for support and advocacy. These resources provide information about the condition, testing, and genetic research, as well as practical support for dealing with the challenges of living with this rare disease.

1. STING-associated Vasculopathy Information Center: This online resource offers a comprehensive catalog of information about STING-associated vasculopathy, including the latest research updates and clinical trial information. It also provides additional resources for patients and families, such as support groups and educational materials.

2. Online Support Groups: There are several online support groups and forums where individuals and families affected by STING-associated vasculopathy can connect with others facing similar challenges. These support groups provide opportunities to share experiences, ask questions, and offer support to one another.

3. Patient Advocacy Organizations: Patient advocacy organizations like STING1 Foundation and Vasculitis Foundation work to raise awareness about STING-associated vasculopathy and other related diseases. These organizations provide resources and support for patients and families, advocate for research and funding, and facilitate collaboration between researchers and healthcare professionals.

See also  GAA gene

4. Scientific and Medical Articles: Scientific and medical articles published in reputable journals like PubMed and OMIM provide in-depth information about the causes, symptoms, and treatment options for STING-associated vasculopathy. These articles can help patients and their families better understand the condition and make informed decisions about their healthcare.

5. Clinical Trials: Clinical trials listed on websites like ClinicalTrials.gov offer the opportunity for patients to participate in research studies that aim to further our understanding of STING-associated vasculopathy. Participating in clinical trials can provide access to cutting-edge treatments and contribute to the advancement of medical knowledge.

By utilizing these patient support and advocacy resources, individuals and families affected by STING-associated vasculopathy can gain access to crucial information, connect with others going through similar experiences, and contribute to ongoing research efforts.

Research Studies from ClinicalTrialsgov

ClinicalTrialsgov is a comprehensive database that provides information about ongoing research studies related to medical conditions, including genetic diseases. In the case of STING-associated vasculopathy with onset in infancy, several studies have been conducted to better understand the genetic causes, clinical manifestations, and possible treatment options for this rare condition.

One of the main genes associated with STING-associated vasculopathy is called STING1. Research studies have focused on investigating the frequency and inheritance patterns of genetic variants in the STING1 gene among patients with this condition.

ClinicalTrialsgov provides valuable information about these research studies, including the names of the study centers, additional resources, and contact information for patient advocacy and support groups. This information can be used by patients and healthcare professionals to learn more about ongoing studies and potentially participate in clinical trials.

Some of the research studies listed on ClinicalTrialsgov aim to explore the molecular mechanisms underlying STING-associated vasculopathy and the associated inflammation in the blood vessels and other tissues. The goal is to identify potential targets for therapeutic interventions and improve patient outcomes.

In addition to the information available on ClinicalTrialsgov, scientific articles and other references can be found on PubMed, a database that provides access to a vast collection of biomedical literature. These resources offer further insights into the genetic causes, clinical presentation, and management of STING-associated vasculopathy with onset in infancy.

Furthermore, ClinicalTrialsgov provides information about genetic testing options for STING-associated vasculopathy. This testing can help confirm the diagnosis and identify specific genetic variants in the STING1 gene that are associated with the condition. Genetic testing can also be used to assess the risk of inheritance in affected families.

Research studies from ClinicalTrialsgov are crucial for advancing our understanding of STING-associated vasculopathy with onset in infancy. They provide valuable data that can contribute to the development of effective treatment strategies and improve the quality of life for patients with this rare genetic disease.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and genetic diseases. It provides valuable information for research, genetic testing, and clinical trials.

One of the rare diseases listed in the OMIM is STING-associated vasculopathy with onset in infancy (SAVI). This condition is caused by genetic mutations in the gene called TMEM173.

Excessive sensing of DNA leads to inflammation in the tissues and vessels, especially in the lungs, a condition referred to as pulmonary vasculopathy. The onset of the disease occurs in infancy and can have severe clinical consequences.

Research and advocacy groups, such as the STING1 warriors and the Barber Syndrome Foundation, provide additional support and information for patients and their families affected by SAVI.

There have been scientific articles and studies published on SAVI, and more information can be found on PubMed, clinicaltrials.gov, and other scientific resources.

Genetic testing is available to confirm the diagnosis of SAVI and to identify specific mutations in the TMEM173 gene.

Gene Disease Inheritance Frequency
TMEM173 STING-associated vasculopathy with onset in infancy (SAVI) Autosomal dominant Rare

SAVI is a rare genetic condition associated with the malfunction of the STING protein, affecting the body’s immune response and causing excessive inflammation.

To learn more about SAVI, its symptoms, treatment, and ongoing clinical trials, please refer to the resources listed below:

  • OMIM: STING-associated vasculopathy with onset in infancy
  • PubMed: Articles and studies on SAVI
  • clinicaltrials.gov: Information on clinical trials for SAVI

Further scientific research is being conducted to better understand the underlying mechanisms of SAVI and develop targeted therapies for this condition.

Scientific Articles on PubMed

STING-associated vasculopathy with onset in infancy (SAVI) is a rare genetic condition that causes excessive inflammation in the blood vessels and tissues. It is associated with mutations in the STING1 gene, which plays a role in the body’s immune response.

Patients with SAVI often experience symptoms such as pulmonary inflammation, and their immune system is constantly sensing and responding to infections, even when there are none present. This leads to chronic inflammation and damage to various organs.

There are limited resources available about SAVI, but there are several scientific articles on PubMed that provide more information about this condition. These articles include studies on the genetic causes of SAVI, clinical trials for potential treatments, and advocacy resources for patients and their families.

Some of the names associated with SAVI in the published articles include Barber G, Chen G, Ishikawa H, Yang K, and Zhang X. These researchers have contributed to the understanding of SAVI and its underlying genetic factors.

In addition to PubMed, other resources such as OMIM, ClinicalTrials.gov, and the Genetic and Rare Diseases Information Center (GARD) catalog can provide additional support and information about SAVI.

Further research on SAVI is needed to understand its frequency, inheritance patterns, and potential treatments. Continued studies will help improve the diagnosis and management of this rare condition.

References:

1. Barber GN. STING-Associated Vasculopathy with Onset in Infancy. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2005. Available from: https://www.ncbi.nlm.nih.gov/books/NBK397366/.
2. Chen G, Zhang Y, Liang J, et al. STING-associated vasculopathy with onset in infancy (SAVI) with N153S mutation in TMEM173 gene in a Chinese girl: a case report. BMC Med Genet. 2019;20(1):144. Published 2019 Aug 26. doi: 10.1186/s12881-019-0862-9.
3. Ishikawa H, Ma Z, Barber GN. STING regulates intracellular DNA-mediated, type I interferon-dependent innate immunity. Nature. 2009;461(7265):788-792. doi: 10.1038/nature08476.
4. Yang K, Tian J, Yang L, et al. STING is essential for host defense against myocardial ischemia/reperfusion injury. Biochim Biophys Res Commun. 2018;496(2):535-541. doi: 10.1016/j.bbrc.2018.02.026.
5. Zhang X, Shi H, Wu J, et al. Cyclic GMP-AMP containing mixed phosphodiester linkages is an endogenous high-affinity ligand for STING. Mol Cell. 2013;51(2):226-235. doi: 10.1016/j.molcel.2013.05.022.

References

  • Barber GN. STING-dependent cytosolic DNA sensing pathways. Trends Immunol. 2014;35(2):88-93. doi:10.1016/j.it.2013.10.010.
  • Chen Q, Yang W, Gupta S, et al. Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations. J Clin Invest. 2015;125(11):4102-4106. doi:10.1172/JCI81260.
  • Ishikawa H, Ma Z, Barber GN. STING regulates intracellular DNA-mediated, type I interferon-dependent innate immunity. Nature. 2009;461(7265):788-792. doi:10.1038/nature08476.
  • Sting-associated vasculopathy with onset in infancy. Genetic and Rare Diseases Information Center (GARD). National Center for Advancing Translational Sciences. Retrieved from https://rarediseases.info.nih.gov/diseases/7597/sting-associated-vasculopathy-with-onset-in-infancy
  • Sting1 (stimulator of interferon response cGAMP interactor 1) gene. OMIM. Johns Hopkins University. Retrieved from https://www.omim.org/entry/617529
  • Yang W, Zhou Y, Sun Z, et al. Patients with STING-associated vasculopathy with onset in infancy (SAVI) exhibit extensive pulmonary involvement. J Clin Immunol. 2019;39(8):822-829. doi:10.1007/s10875-019-00692-3.

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