Defective TRAF3 does not transmit the signal

Stable Identifier
Reaction [transition]
Homo sapiens
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Autosomal dominant TRAF3 deficiency caused by heterozygous missense mutation (R118W) of one TRAF3 allele is associated with a loss-of-function, dominant-negative phenotype, resulting in a greatly reduced level of TRAF3 protein and impaired, but not abolished TRAF3-dependent responses (Perez de Diego R et al. 2010). Although various TRAF3-dependent pathways (such as TNFR, CD40, LT-bR, and BAFFR, TLRs and RIG1) were affected in the patient cells, most of them remained clinically silent. However, impairment of TLR3-mediated induction of IFN due to defective TRAF3 was associated with a clinical phenotype limited to herpes simplex virus type 1 (HSV1) encephalitis (HSE), a rare life-threatening complication during HSV-1 infection of the central nervous system (CNS) (Perez de Diego R et al. 2010).

One case with HSE-associated TRAF3 deficiency has been reported so far.

Literature References
PubMed ID Title Journal Year
20832341 Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis

Abel, L, Lebon, P, Bravo, J, Al-Muhsen, S, PĂ©rez de Diego, R, Herman, M, Chaix, Y, Lorenzo, L, Jouanguy, E, Warnatz, K, Plancoulaine, S, Vallabhapurapu, S, Puel, A, Picard, C, Bustamante, J, Zhang, SY, Cardon, A, Cascarrigny, F, Rozenberg, F, Durandy, A, Sancho-Shimizu, V, Casanova, JL, Karin, M, Tardieu, M

Immunity 2010
Normal reaction
Functional status

Loss of function of TRAF3 R118W [cytosol]

Name Identifier Synonyms
primary immunodeficiency disease DOID:612 immune deficiency disorder, immunodeficiency syndrome, hypoimmunity
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