KEGG   VARIANT: 90268v1
Entry
90268v1                      Variant                               
Name
OTULIN mutation
Type
Loss of function
Gene
OTULIN  ubiquitin thioesterase otulin [KO:K18343]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 615712
Network
nt06516  TNF signaling
Disease
H02414  Autoinflammation, panniculitis, and dermatosis syndrome
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
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
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