KEGG   DISEASE: Autoinflammation with arthritis and vasculitis
Entry
H02829                      Disease                                
Name
Autoinflammation with arthritis and vasculitis
Description
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.
Category
Immune system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 04 Diseases of the immune system
  Autoinflammatory disorders
   4A6Y  Other specified autoinflammatory disorders
    H02829  Autoinflammation with arthritis and vasculitis
Gene
TBK1 [HSA:29110] [KO:K05410]
Other DBs
ICD-11: 4A6Y
OMIM: 620880
Reference
  Authors
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
  Title
Human TBK1 deficiency leads to autoinflammation driven by TNF-induced cell death.
  Journal
Cell 184:4447-4463.e20 (2021)
DOI:10.1016/j.cell.2021.07.026
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