Type 1 interferonopathy, is a group of rare genetic disorders characterized by dysregulation of the type I interferon system. Interferons are proteins produced by the body’s immune cells in response to viral infections and other immune triggers. They play a crucial role in the innate immune response by activating various immune cells and inducing an antiviral state.
In type 1 interferonopathies, there is a defect in the regulation of the type I interferon pathway, leading to an overproduction or chronic activation of type I interferons. This dysregulation can cause inflammation and tissue damage throughout the body, resulting in a range of clinical manifestations.
There are several specific conditions classified as type 1 interferonopathies, including:
Aicardi-Goutières syndrome (AGS): AGS is an early-onset neurological disorder characterized by progressive brain dysfunction, intellectual disability, seizures, and other neurological abnormalities. It typically presents in infancy and mimics the effects of a congenital viral infection, although no infectious agent is actually present.
Singleton-Merten syndrome (SMS): SMS is a rare genetic disorder characterized by abnormalities in the teeth and blood vessels, as well as other systemic features. Patients with SMS may exhibit dental anomalies, skeletal abnormalities, calcification of the aorta, and other cardiovascular problems.
STING-associated vasculopathy with onset in infancy (SAVI): SAVI is a rare autoinflammatory disorder caused by mutations in the STING gene. It is characterized by recurrent episodes of severe inflammation in the blood vessels, leading to vasculopathy, skin lesions, and other systemic manifestations.
STING-associated lupus erythematosus (SALE): SALE is another condition associated with mutations in the STING gene. It can present with features similar to systemic lupus erythematosus (SLE), including rash, joint pain, organ involvement, and autoimmune phenomena.
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https://pubmed.ncbi.nlm.nih.gov/37161741/
https://www.frontiersin.org/articles/10.3389/fped.2021.631329/full
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