KEGG   VARIANT: 7128v1
Entry
7128v1                      Variant                                
Name
TNFAIP3 mutation
Type
Loss of function
Gene
TNFAIP3  TNF alpha induced protein 3 [KO:K11859]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 191163
Network
nt06516  TNF signaling
Disease
H02592  Familial Behcet-like autoinflammatory syndrome
Reference
PMID:28469620
  Authors
Aksentijevich I, Zhou Q
  Title
NF-kappaB Pathway in Autoinflammatory Diseases: Dysregulation of Protein Modifications by Ubiquitin Defines a New Category of Autoinflammatory Diseases.
  Journal
Front Immunol 8:399 (2017)
DOI:10.3389/fimmu.2017.00399
Reference
PMID:34635190
  Authors
Masumoto J, Zhou W, Morikawa S, Hosokawa S, Taguchi H, Yamamoto T, Kurata M, Kaneko N
  Title
Molecular biology of autoinflammatory diseases.
  Journal
Inflamm Regen 41:33 (2021)
DOI:10.1186/s41232-021-00181-8
Reference
PMID:28722725
  Authors
Manthiram K, Zhou Q, Aksentijevich I, Kastner DL
  Title
The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation.
  Journal
Nat Immunol 18:832-842 (2017)
DOI:10.1038/ni.3777
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