Concept

Significance

AGS is a debilitating inflammatory disease characterized by a high morbidity and mortality rate, warranting the immediate development of therapeutics and diagnostic tools to combat the disease. The results of this paper identify interferon scores as an acceptable biomarker that relates the expression of ISGs to interferon activity and AGS. Mendelian type I interferonpathies can be effectively diagnosed utilizing this signature and the mechanisms of the IFN signaling cascade should be investigated. Similar to autoinflammatory disorders and primary immunodeficiencies, type I interferonopathies may be attributed to errors in the immune system, specifically the stimulation of type I interferon pathways. Additionally, mutations in ISGs may produce defective regulatory proteins that lead to the accumulation of potent type I IFN. Other type I interferonopathies may exist and remain unidentified today. Researchers suggest screening patients with clinical phenotypes involving immunological and neurological characteristics for interferon signatures. Furthermore, whole exome sequencing can be used to isolate specific mutations in target genes and locate more ISGs.

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Updated 2021-07-02

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Biomedical Sciences