biology

STING-associated vasculopathy with onset in infancy

STING-associated vasculopathy with onset in infancy is a biology topic covered in the lgStudy science library. This page brings together a partial reference excerpt, illustrations, worked examples, real-world applications and a short study plan, so you can understand STING-associated vasculopathy with onset in infancy rather than just read about it. In short: STING-associated vasculopathy with onset in infancy (SAVI) is a rare autoinflammatory vasculopathy associated with the stimulator of interferon genes (STING) protein and characterised by severe skin lesions and interstitial lung disease. Signs and symptoms The onset is in infancy.

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Reference excerpt

STING-associated vasculopathy with onset in infancy (SAVI) is a rare autoinflammatory vasculopathy associated with the stimulator of interferon genes (STING) protein and characterised by severe skin lesions and interstitial lung disease.

Signs and symptoms The onset is in infancy. The skin lesions occur on cheeks, nose, fingers, toes and soles. They may vary in appearance but frequently develop into non-healing ulcers. Interstitial lung disease is also common. Some individuals may not experience any obvious skin issues. All affected children fail to thrive. Other features include myositis and joint stiffness. Some children experience hyper mobility, and joint pain. Imaging: Chest X-rays show sign consistent with interstitial lung disease. Bloods: Anemia, leukopenia, thrombocytosis, T cell lymphopenia with normal B cells and hypergammaglobulinemia may occur. Autoantibodies may be present including antinuclear, antiphospholipid, and anticardiolipin antibodies. The erythrocyte sedimentation rate and C reactive protein levels tend to be raised. Biopsies: Skin biopsies show inflammation of the capillaries and microthrombosis. Immunoglobulin M and C3 deposition may be present. Lung biopsies show fibrosing alveolitis, follicular hyperplasia, B-cell germinal centers and interstitial fibrosis. Some children demonstrate pulmonary alveolar protianosis on Lavage.

Genetics This condition is due to mutations in the TMEM173 gene. This gene is located on the long arm of chromosome 5 (5q31.2) and encodes the stimulator of interferon genes (STING) protein. There are 3 disease causing mutations in the dimerization domain of STING that cause SAVI; V155M, N154S, and V147L.

Pathopysiology This only partly understood. The wild type protein (STING) is normally found in the cytoplasm of the cell. The mutant forms are located in the Golgi apparatus.

Diagnosis The condition may be suspected on clinical grounds. The diagnosis is made by sequencing the TMEM173 gene.

Treatment No specific treatment is known. Management is supportive. Research into the efficacy of a subgroup of medications known as JAK inhibitors (such as Baricitinib) has been studied at the National Institutes of Health, starting in 2014.

Epidemiology This condition is considered rare, with 9 cases reported in the literature up to 2019.

Research This disease was first described in 2014. In 2017 a group led by Dr. Jonathan Miner generated the first mouse model of SAVI. Dr. Miner's research team used CRISPR/Cas9 genome editing to introduce a mutation into the mouse STING gene (STING1) that was analogous to a human SAVI-associated mutation. These mice, known as STING N153S or SAVI mice, developed spontaneous lung disease and a severe immunodeficiency to a herpesviruses. SAVI mice also develop lung disease that depends on adaptive immunity, but not on the type I interferon receptor. Whereas SAVI mice also lack lymph nodes and have reduced numbers of innate lymphoid cells (ILCs), patients with SAVI do have lymph nodes despite also having reduced numbers of ILCs. Lung disease in SAVI mice also can be regulated by microbes, which might reflect the capacity of STING to detect or be regulated by microbial metabolites. The Miner laboratory subsequently moved to the University of Pennsylvania (Penn), where research on mechanisms of STING-associated autoimmunity has continued. Other laboratories including those of Kate Fitzgerald (UMass) and Angela Rosen-Wolff (TU Dresden), independently generated the same SAVI mice, as well as additional models, and made similar findings with regard to the role of type I interferon in the mouse model of SAVI.

References

Illustrations

Worked examples

Example 1 — a first encounter with STING-associated vasculopathy with onset in infancy

Start with the simplest possible case. Write down what STING-associated vasculopathy with onset in infancy claims or describes in one sentence, then invent the smallest concrete situation in which that sentence is true. In biology, the smallest case is usually a single object, a single equation or a single measurement. Check that every symbol or term in your sentence has a meaning in that case.

Example 2 — changing one variable

Take the situation from Example 1 and change exactly one quantity: double it, halve it, or set it to zero. Predict what should happen to STING-associated vasculopathy with onset in infancy before you calculate. Comparing your prediction with the result is the fastest way to find out whether you understand the idea or only the words.

Example 3 — an exam-style question

Typical questions about STING-associated vasculopathy with onset in infancy ask you to (a) state it precisely, (b) apply it to given data, and (c) explain a limitation. Practise writing all three answers in under five minutes; the third part is what separates a full-mark answer from an average one.

Applications of STING-associated vasculopathy with onset in infancy

In research: STING-associated vasculopathy with onset in infancy appears in biology research whenever the underlying quantities have to be modelled precisely. Papers usually cite it as a starting assumption and then explore where it breaks down.
In technology and industry: Engineering practice reuses STING-associated vasculopathy with onset in infancy in design rules, simulations and safety margins. Knowing the idea lets you read a specification sheet and understand why the numbers look the way they do.
In the classroom: STING-associated vasculopathy with onset in infancy is common in secondary-school and first-year university syllabi. It links to neighbouring topics Autosomal recessive disorders, Genetic diseases and disorders, Rare syndromes, so understanding it makes those chapters shorter.
In everyday life: Look for STING-associated vasculopathy with onset in infancy outside the textbook — in sport, cooking, traffic, electronics or the sky above you. An example you found yourself is remembered far longer than one you were given.

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Frequently asked questions

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Why does STING-associated vasculopathy with onset in infancy matter?

Because it connects several biology ideas at once: it gives you a definition you can apply, a quantity you can calculate, and a way to check whether a result is plausible.

How should I study STING-associated vasculopathy with onset in infancy?

Read the excerpt, restate it from memory, then work through the examples and applications listed on this page. The five-step study plan above takes about twenty minutes.

What does this page cover?

It gives you a compact reference excerpt plus original lgStudy explanations, examples, applications and study material on STING-associated vasculopathy with onset in infancy.