Sting-associated Vasculopathy With Onset In Infancy

Description

STING-associated vasculopathy with onset in infancy (SAVI) is a rare, genetic autoinflammatory disorder, type I interferonopathy due to constitutive STING (STimulator of INterferon Genes) activation, characterized by neonatal or infantile onset systemic inflammation and small vessel vasculopathy resulting in severe skin, pulmonary and joint lesions. Patients present with intermittent low-grade fever, recurrent cough and failure to thrive, in association with progressive interstitial lung disease, polyarthritis and violaceous scaling lesions on fingers, toes, nose, cheeks, and ears (which are exacerbated by cold exposure) that often progress to chronic acral ulceration, necrosis and autoamputation.

Clinical Features

Top most frequent phenotypes and symptoms related to Sting-associated Vasculopathy With Onset In Infancy

  • Growth delay
  • Failure to thrive
  • Anemia
  • Fever
  • Recurrent respiratory infections
  • Arthralgia
  • Myalgia
  • Erythema
  • Joint stiffness
  • Scarring

And another 23 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Alternative names

Sting-associated Vasculopathy With Onset In Infancy Is also known as savi.

Researches and researchers

Doctors, researchs, and experts related to Sting-associated Vasculopathy With Onset In Infancy extracted from public data.

Sting-associated Vasculopathy With Onset In Infancy Experts map



Current Researchs and researchers

  • PARIS — Dr Mathieu RODERO

    Investigator of research project

    • Institution/s:
      — Institut Imagine - INSERM U1163, IMAGINE - Institut des Maladies Génétiques
    • Research area/topic::

      Identification of molecules able to control interferon beta transcription in patients with gain-of-function mutations in TMEM173



Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Sting-associated Vasculopathy With Onset In Infancy Recommended genes panels

Panel Name, Specifity and genes Tested/covered
TMEM173 Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

TMEM173
Specificity
100 %
Genes
100 %
TMEM173.

By Institute for Human Genetics University Clinic Freiburg (Germany).

TMEM173
Specificity
100 %
Genes
100 %
Vasculopathy, infantile-onset, TMEM173/STING related.

By Centogene AG - the Rare Disease Company (Germany).

TMEM173
Specificity
100 %
Genes
100 %
Invitae Monogenic Autoimmunity Panel.

By Invitae (United States).

RMRP, SH2D1A, SLC7A7, BTK, STAT1, STAT3, STAT5B, STIM1, STX11, STXBP2, TBX1, FAS, CD27, TNFSF12, CD40LG, FASLG, TPP2, TREX1, ACP5, UNG , (...)

View the complete list with 53 more genes
Specificity
2 %
Genes
100 %
Invitae Primary Immunodeficiency Panel.

By Invitae (United States).

RMRP, RORC, SEMA3E, SH2D1A, SH3BP2, SLC7A7, SMARCAL1, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TAZ, TBK1, TCN2 , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
100 %
TMEM173.

By Fulgent Genetics Fulgent Genetics (United States).

TMEM173
Specificity
100 %
Genes
100 %
Primary Immunodeficiency Panel.

By Blueprint Genetics (Finland).

RMRP, RORC, CFB, BLM, SH2D1A, SLC7A7, SMARCAL1, SMARCD2, SRP72, BTK, STAT1, STAT2, STAT3, STAT5B, STIM1, STK4, STX11, STXBP2, TAPBP, TBX1 , (...)

View the complete list with 253 more genes
Specificity
1 %
Genes
100 %
Autoinflammatory Syndrome Panel.

By Blueprint Genetics (Finland).

TNFAIP3, TNFRSF1A, TREX1, ACP5, NLRP1, LPIN2, IL36RN, SAMHD1, NLRP3, NLRC4, CARD14, TRNT1, RNASEH2A, IFIH1, DDX58, ADAR, NLRP12, SLC29A3, RNASEH2C, OTULIN , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
100 %

We have 1 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like VON WILLEBRAND DISEASE, TYPE 2; VWD2 TARP SYNDROME; TARPS PHOSPHOSERINE AMINOTRANSFERASE DEFICIENCY; PSATD HYPERMETHIONINEMIA DUE TO ADENOSINE KINASE DEFICIENCY FRONTOTEMPORAL DEMENTIA, CHROMOSOME 3-LINKED; FTD3

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more