KEGG   VARIANT: 8737v2
Entry
8737v2                      Variant                                
Name
RIPK1 gain-of-function mutation
Type
Gain of function
Gene
RIPK1  receptor interacting serine/threonine kinase 1 [KO:K02861]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603453
Network
nt06516  TNF signaling
nt06527  Necroptosis
Disease
H02620  Autoinflammation with episodic fever and lymphadenopathy
Reference
  Authors
van Loo G, Bertrand MJM
  Title
Death by TNF: a road to inflammation.
  Journal
Nat Rev Immunol 1-15 (2022)
DOI:10.1038/s41577-022-00792-3
Reference
  Authors
Webster JD, Vucic D
  Title
The Balance of TNF Mediated Pathways Regulates Inflammatory Cell Death Signaling in Healthy and Diseased Tissues.
  Journal
Front Cell Dev Biol 8:365 (2020)
DOI:10.3389/fcell.2020.00365
Reference
  Authors
Tao P, Sun J, Wu Z, Wang S, Wang J, Li W, Pan H, Bai R, Zhang J, Wang Y, Lee PY, Ying W, Zhou Q, Hou J, Wang W, Sun B, Yang M, Liu D, Fang R, Han H, Yang Z, Huang X, Li H, Deuitch N, Zhang Y, Dissanayake D, Haude K, McWalter K, Roadhouse C, MacKenzie JJ, Laxer RM, Aksentijevich I, Yu X, Wang X, Yuan J, Zhou Q
  Title
A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1.
  Journal
Nature 577:109-114 (2020)
DOI:10.1038/s41586-019-1830-y
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