KEGG   VARIANT: 7098v1
Entry
7098v1                      Variant                                
Name
TLR3 mutation
Type
Loss of function
Gene
TLR3  toll like receptor 3 [KO:K05401]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 603029
Network
nt06517  TLR signaling
nt06527  Necroptosis
Disease
H02536  Infection-induced acute encephalopathy
Reference
  Authors
Zhang SY, Jouanguy E, Ugolini S, Smahi A, Elain G, Romero P, Segal D, Sancho-Shimizu V, Lorenzo L, Puel A, Picard C, Chapgier A, Plancoulaine S, Titeux M, Cognet C, von Bernuth H, Ku CL, Casrouge A, Zhang XX, Barreiro L, Leonard J, Hamilton C, Lebon P, Heron B, Vallee L, Quintana-Murci L, Hovnanian A, Rozenberg F, Vivier E, Geissmann F, Tardieu M, Abel L, Casanova JL
  Title
TLR3 deficiency in patients with herpes simplex encephalitis.
  Journal
Science 317:1522-7 (2007)
DOI:10.1126/science.1139522
Reference
  Authors
Sironi M, Peri AM, Cagliani R, Forni D, Riva S, Biasin M, Clerici M, Gori A
  Title
TLR3 Mutations in Adult Patients With Herpes Simplex Virus and Varicella-Zoster Virus Encephalitis.
  Journal
J Infect Dis 215:1430-1434 (2017)
DOI:10.1093/infdis/jix166
LinkDB

DBGET integrated database retrieval system