TICAM1 deficiency - HSE

Stable Identifier
R-HSA-5602566
Type
Pathway
Species
Homo sapiens
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Inborn errors of interferon immunity due to defects in toll like receptor 3 (TLR3)-mediated signaling underlie pathogenesis of herpes simplex virus type 1 (HSV1) encephalitis (HSE) in some children (Netea MG et al. 2012). Autosomal dominant (AD) and recessive (AR) deficiencies of (TIR) domain-containing adaptor inducing IFN-beta (TRIF or TICAM1) are also associated with impaired IFN production and predisposition to HSE in the course of primary infection by HSV1 (Sancho-Shimizu V et al. 2011).

Literature References
PubMed ID Title Journal Year
22105173 Herpes simplex encephalitis in children with autosomal recessive and dominant TRIF deficiency

Sancho-Shimizu, V, PĂ©rez de Diego, R, Lorenzo, L, Halwani, R, Alangari, A, Israelsson, E, Fabrega, S, Cardon, A, Maluenda, J, Tatematsu, M, Mahvelati, F, Herman, M, Ciancanelli, M, Guo, Y, AlSum, Z, Alkhamis, N, Al-Makadma, AS, Ghadiri, A, Boucherit, S, Plancoulaine, S, Picard, C, Rozenberg, F, Tardieu, M, Lebon, P, Jouanguy, E, Rezaei, N, Seya, T, Matsumoto, M, Chaussabel, D, Puel, A, Zhang, SY, Abel, L, Al-Muhsen, S, Casanova, JL

J. Clin. Invest. 2011
Participants
Participant Of
Disease
Name Identifier Synonyms
primary immunodeficiency disease 612 immune deficiency disorder, immunodeficiency syndrome, hypoimmunity
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