| 概要 |
Autoinflammation with arthritis and vasculitis (AIARV) is an early-onset chronic and systemic autoinflammation. It has been reported that mutations in TBK1 cause this syndrome. TBK1 encodes TANK binding kinase 1, that regulates IFN-I, NF-kappaB, and TNF-induced RIPK1-dependent cell death.
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| 著者 |
Taft J, Markson M, Legarda D, Patel R, Chan M, Malle L, Richardson A, Gruber C, Martin-Fernandez M, Mancini GMS, van Laar JAM, van Pelt P, Buta S, Wokke BHA, Sabli IKD, Sancho-Shimizu V, Chavan PP, Schnappauf O, Khubchandani R, Cuceoglu MK, Ozen S, Kastner DL, Ting AT, Aksentijevich I, Hollink IHIM, Bogunovic D |
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