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W4297016296 abstract "Upregulation of type I interferon (IFN) signaling has been increasingly detected in inflammatory diseases. Recently, upregulation of the IFN signature has been suggested as a potential biomarker of IFN-driven inflammatory diseases. Yet, it remains unclear to what extent type I IFN is involved in the pathogenesis of undifferentiated inflammatory diseases. This study aimed to quantify the type I IFN signature in clinically undiagnosed patients and assess clinical characteristics in those with a high IFN signature.The type I IFN signature was measured in patients' whole blood cells. Clinical and biological data were collected retrospectively, and an intensive genetic analysis was performed in undiagnosed patients with a high IFN signature.A total of 117 samples from 94 patients with inflammatory diseases, including 37 undiagnosed cases, were analyzed. Increased IFN signaling was observed in 19 undiagnosed patients, with 10 exhibiting clinical features commonly found in type I interferonopathies. Skin manifestations, observed in eight patients, were macroscopically and histologically similar to those found in proteasome-associated autoinflammatory syndrome. Genetic analysis identified novel mutations in the PSMB8 gene of one patient, and rare variants of unknown significance in genes linked to type I IFN signaling in four patients. A JAK inhibitor effectively treated the patient with the PSMB8 mutations. Patients with clinically quiescent idiopathic pulmonary hemosiderosis and A20 haploinsufficiency showed enhanced IFN signaling.Half of the patients examined in this study, with undifferentiated inflammatory diseases, clinically quiescent A20 haploinsufficiency, or idiopathic pulmonary hemosiderosis, had an elevated type I IFN signature." @default.
W4297016296 created "2022-09-25" @default.
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W4297016296 date "2022-09-23" @default.
W4297016296 modified "2023-10-09" @default.
W4297016296 title "Assessment of type I interferon signatures in undifferentiated inflammatory diseases: A Japanese multicenter experience" @default.
W4297016296 cites W1890297073 @default.
W4297016296 cites W1988458651 @default.
W4297016296 cites W2008880932 @default.
W4297016296 cites W2014577319 @default.
W4297016296 cites W2022126078 @default.
W4297016296 cites W2042312470 @default.
W4297016296 cites W2078540517 @default.
W4297016296 cites W2082698858 @default.
W4297016296 cites W2090848665 @default.
W4297016296 cites W2091129202 @default.
W4297016296 cites W2106273198 @default.
W4297016296 cites W2117159031 @default.
W4297016296 cites W2136590838 @default.
W4297016296 cites W2138282709 @default.
W4297016296 cites W2141521236 @default.
W4297016296 cites W2145978988 @default.
W4297016296 cites W2154500600 @default.
W4297016296 cites W2160849060 @default.
W4297016296 cites W2168888135 @default.
W4297016296 cites W2403065761 @default.
W4297016296 cites W2406926931 @default.
W4297016296 cites W2421907319 @default.
W4297016296 cites W2462644910 @default.
W4297016296 cites W2514488813 @default.
W4297016296 cites W2560204043 @default.
W4297016296 cites W2588284330 @default.
W4297016296 cites W2606492431 @default.
W4297016296 cites W2740576013 @default.
W4297016296 cites W2769096731 @default.
W4297016296 cites W2770281423 @default.
W4297016296 cites W2771216575 @default.
W4297016296 cites W2791732570 @default.
W4297016296 cites W2796581040 @default.
W4297016296 cites W2796690375 @default.
W4297016296 cites W2809074048 @default.
W4297016296 cites W2899944908 @default.
W4297016296 cites W2900066742 @default.
W4297016296 cites W2909164374 @default.
W4297016296 cites W2947150208 @default.
W4297016296 cites W2948992588 @default.
W4297016296 cites W2951901562 @default.
W4297016296 cites W2968883182 @default.
W4297016296 cites W2969592325 @default.
W4297016296 cites W2981967634 @default.
W4297016296 cites W2982129028 @default.
W4297016296 cites W2982474992 @default.
W4297016296 cites W2991139586 @default.
W4297016296 cites W2991331878 @default.
W4297016296 cites W2997784912 @default.