KEGG   VARIANT: 22900v1
Entry
22900v1                      Variant                               
Name
CARD8 mutation
Type
Loss of function
Gene
CARD8  caspase recruitment domain family member 8 [KO:K12801]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 609051
Network
nt06521  NLR signaling
Disease
H01227  Inflammatory bowel disease (IBD)
Reference
PMID:30455704
  Authors
Mao L, Kitani A, Strober W, Fuss IJ
  Title
The Role of NLRP3 and IL-1beta in the Pathogenesis of Inflammatory Bowel Disease.
  Journal
Front Immunol 9:2566 (2018)
DOI:10.3389/fimmu.2018.02566
Reference
PMID:29408806
  Authors
Mao L, Kitani A, Similuk M, Oler AJ, Albenberg L, Kelsen J, Aktay A, Quezado M, Yao M, Montgomery-Recht K, Fuss IJ, Strober W
  Title
Loss-of-function CARD8 mutation causes NLRP3 inflammasome activation and Crohn's disease.
  Journal
J Clin Invest 128:1793-1806 (2018)
DOI:10.1172/JCI98642
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