KEGG   VARIANT: 331v1
Entry
331v1                      Variant                                 
Name
XIAP mutation
Type
Loss of function
Gene
XIAP  X-linked inhibitor of apoptosis [KO:K04725]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 300079
Network
nt06516  TNF signaling
nt06527  Necroptosis
Disease
H01969  X-linked lymphoproliferative syndrome
Reference
PMID:36380021
  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
PMID:28723569
  Authors
Lawlor KE, Feltham R, Yabal M, Conos SA, Chen KW, Ziehe S, Grass C, Zhan Y, Nguyen TA, Hall C, Vince AJ, Chatfield SM, D'Silva DB, Pang KC, Schroder K, Silke J, Vaux DL, Jost PJ, Vince JE
  Title
XIAP Loss Triggers RIPK3- and Caspase-8-Driven IL-1beta Activation and Cell Death as a Consequence of TLR-MyD88-Induced cIAP1-TRAF2 Degradation.
  Journal
Cell Rep 20:668-682 (2017)
DOI:10.1016/j.celrep.2017.06.073
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