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KMID : 1161220230660100432
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Clinical and Experimental Pediatrics
2023 Volume.66 No. 10 p.432 ~ p.438
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Systemic autoinflammatory disorders
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Jeong Dae-Chul
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Abstract
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Inflammation is a physiologic defense mechanism against anout-side attack. Usually, it resolves after the removal of noxiouscauses, but systemic autoinflammatory disorders (SAIDs) haverecurrent or repeated acute inflammation through uncontrolledgene function, which can present as gain-of-function or loss-offunction of a gene during inflammation. Most SAIDs are hereditary autoinflammatory diseases and develop by dysregulationof innate immunity through various pathways including inflammasomes, endoplasmic reticulum stress, nuclear factor-κBdysregulation, and interferon production. The clinical manifestations include periodic fever with various skin findings suchas neutrophilic urticarial dermatosis, or vasculitic lesions. SomeSAID cases stem from immunodeficiency or allergic reactionsrelated to monogenic mutation. The diagnosis of SAIDs isbased on clinical findings of systemic inflammation and geneticconfirmation, and have to exclude infections or malignancies.
Moreover, a genetic study is essential for clinical features tobe suspect SAID with or without a family history. Treatment isbased on understanding the immunopathology of SAID, andtargeted therapy to control disease flares, reduce recurrentacute phases and prevent serious complications. Diagnosingand treating SAID requires understanding its comprehensiveclinical features and pathogenesis related to genetic mutation.
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KEYWORD
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Inflammation, Hereditary autoinflammatory diseases, Innate immunity
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