KEGG   VARIANT: 7187v1
Entry
7187v1                      Variant                                
Name
TRAF3 mutation
Type
Loss of function
Gene
TRAF3  TNF receptor associated factor 3 [KO:K03174]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 601896
Network
nt06516  TNF signaling
nt06517  TLR signaling
nt06519  RLR signaling
Disease
H01725  Primary immunodeficiency disease
H02536  Infection-induced acute encephalopathy
Reference
  Authors
Perez de Diego R, Sancho-Shimizu V, Lorenzo L, Puel A, Plancoulaine S, Picard C, Herman M, Cardon A, Durandy A, Bustamante J, Vallabhapurapu S, Bravo J, Warnatz K, Chaix Y, Cascarrigny F, Lebon P, Rozenberg F, Karin M, Tardieu M, Al-Muhsen S, Jouanguy E, Zhang SY, Abel L, Casanova JL
  Title
Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis.
  Journal
Immunity 33:400-11 (2010)
DOI:10.1016/j.immuni.2010.08.014
Reference
  Authors
Rae W, Sowerby JM, Verhoeven D, Youssef M, Kotagiri P, Savinykh N, Coomber EL, Boneparth A, Chan A, Gong C, Jansen MH, du Long R, Santilli G, Simeoni I, Stephens J, Wu K, Zinicola M, Allen HL, Baxendale H, Kumararatne D, Gkrania-Klotsas E, Scheffler Mendoza SC, Yamazaki-Nakashimada MA, Ruiz LB, Rojas-Maruri CM, Lugo Reyes SO, Lyons PA, Williams AP, Hodson DJ, Bishop GA, Thrasher AJ, Thomas DC, Murphy MP, Vyse TJ, Milner JD, Kuijpers TW, Smith KGC
  Title
Immunodeficiency, autoimmunity, and increased risk of B cell malignancy in humans with TRAF3 mutations.
  Journal
Sci Immunol 7:eabn3800 (2022)
DOI:10.1126/sciimmunol.abn3800
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