Human TRAF3 Adaptor Molecule Deficiency Leads to Impaired Toll-like Receptor 3 Response and Susceptibility to Herpes Simplex Encephalitis

Immunity

Volumn 33, Issue 3, 2010, Pages 400-411

  Pérez de Diego, Rebeca ^a,b,c   Sancho Shimizu, Vanessa ^a,b,c   Lorenzo, Lazaro ^a,b,c   Puel, Anne ^a,b,c   Plancoulaine, Sabine ^a,b,c   Picard, Capucine ^a,b,d   Herman, Melina ^a,b,c   Cardon, Annabelle ^a,b,c   Durandy, Anne ^d   Bustamante, Jacinta ^a,b,c   Vallabhapurapu, Sivakumar ^e   Bravo, Jerónimo ^f   Warnatz, Klaus ^g   Chaix, Yves ^h   Cascarrigny, Françoise ⁱ   Lebon, Pierre ^j   Rozenberg, Flore ^j   Karin, Michael ^e   Tardieu, Marc ^k   Al Muhsen, Saleh ^l   Jouanguy, Emmanuelle ^a,b,c   Zhang, Shen Ying ^a,b,c   Abel, Laurent ^a,b,c   Casanova, Jean Laurent ^a,b,c,d,l   more..

^a IMAGINE INSTITUTE   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c ROCKEFELLER UNIVERSITY   (United States)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f INSTITUTO DE BIOMEDICINA DE VALENCIA   (Spain)

^g UNIVERSITY OF FREIBURG   (Germany)

^h Children Hospital of Toulouse   (France)

ⁱ Hospital of Montauban   (France)

^j University Paris René Descartes ^*  (France)

^k BICÊTRE HOSPITAL   (France)

^l KING SAUD UNIVERSITY   (Saudi Arabia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA INTERFERON; BETA INTERFERON; GAMMA INTERFERON; INTERLEUKIN 6; LIPOFECTAMINE; TOLL LIKE RECEPTOR 3; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED FACTOR 3; INTERFERON; TLR3 PROTEIN, HUMAN; TRAF3 PROTEIN, HUMAN; TUMOR NECROSIS FACTOR RECEPTOR;

ADULT; ANIMAL CELL; ARTICLE; CELL SURVIVAL; FIBROBLAST; GENETIC TRANSFECTION; HERPES SIMPLEX ENCEPHALITIS; HERPES SIMPLEX VIRUS 1; HETEROZYGOSITY; HUMAN; HUMAN CELL; IMMUNE RESPONSE; IMMUNOBLOTTING; MACROPHAGE; MOUSE; NONHUMAN; PRIORITY JOURNAL; VIRUS IMMUNITY; CELL CULTURE; DISEASE PREDISPOSITION; GENETICS; IMMUNOLOGY; MUTATION; PHYSIOLOGY;

CELLS, CULTURED; DISEASE SUSCEPTIBILITY; ENCEPHALITIS, HERPES SIMPLEX; HUMANS; INTERFERONS; MUTATION; RECEPTORS, TUMOR NECROSIS FACTOR; TNF RECEPTOR-ASSOCIATED FACTOR 3; TOLL-LIKE RECEPTOR 3;

EID: 77957018085     PISSN: 10747613     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.immuni.2010.08.014     Document Type: Article

References (41)

1. Abel L., Plancoulaine S., Jouanguy E., Zhang S.Y., Mahfoufi N., Nicolas N., Sancho-Shimizu V., Alcais A., Guo Y., Cardon A., et al. Age-dependent Mendelian predisposition to herpes simplex virus type 1 encephalitis in childhood. J. Pediatr. 2010, in press. Published online May 27, 2010. 10.1016/j.jpeds.2010.04.020.
2. Alcais A., Abel L., Casanova J.L. Human genetics of infectious diseases: between proof of principle and paradigm. J. Clin. Invest. 2009, 119:2506-2514.
3. Alcais A., Quintana-Murci L., S.Thaler D., Schurr E., Abel L., Casanova J.L. Life-threatening infectious diseases of childhood: single-gene inborn errors of immunity?. Ann. NY Acad. Sci. 2010, in press.
4. Annunziata C.M., Davis R.E., Demchenko Y., Bellamy W., Gabrea A., Zhan F., Lenz G., Hanamura I., Wright G., Xiao W., et al. Frequent engagement of the classical and alternative NF-kappaB pathways by diverse genetic abnormalities in multiple myeloma. Cancer Cell 2007, 12:115-130.
5. Bishop G.A., Xie P. Multiple roles of TRAF3 signaling in lymphocyte function. Immunol. Res. 2007, 39:22-32.
6. Casanova J.L., Abel L. Primary immunodeficiencies: a field in its infancy. Science 2007, 317:617-619.
7. Casrouge A., Zhang S.Y., Eidenschenk C., Jouanguy E., Puel A., Yang K., Alcais A., Picard C., Mahfoufi N., Nicolas N., et al. Herpes simplex virus encephalitis in human UNC-93B deficiency. Science 2006, 314:308-312.
8. Chapgier A., Wynn R.F., Jouanguy E., Filipe-Santos O., Zhang S., Feinberg J., Hawkins K., Casanova J.L., Arkwright P.D. Human complete Stat-1 deficiency is associated with defective type I and II IFN responses in vitro but immunity to some low virulence viruses in vivo. J. Immunol. 2006, 176:5078-5083.
9. Chapgier A., Kong X.F., Boisson-Dupuis S., Jouanguy E., Averbuch D., Feinberg J., Zhang S.Y., Bustamante J., Vogt G., Lejeune J., et al. A partial form of recessive STAT1 deficiency in humans. J. Clin. Invest. 2009, 119:1502-1514.
10. Chen M.C., Hwang M.J., Chou Y.C., Chen W.H., Cheng G., Nakano H., Luh T.Y., Mai S.C., Hsieh S.L. The role of apoptosis signal-regulating kinase 1 in lymphotoxin-beta receptor-mediated cell death. J. Biol. Chem. 2003, 278:16073-16081.
11. Cheng G., Cleary A.M., Ye Z.S., Hong D.I., Lederman S., Baltimore D. Involvement of CRAF1, a relative of TRAF, in CD40 signaling. Science 1995, 267:1494-1498.
12. Conley M.E., Dobbs A.K., Farmer D.M., Kilic S., Paris K., Grigoriadou S., Coustan-Smith E., Howard V., Campana D. Primary B cell immunodeficiencies: comparisons and contrasts. Annu. Rev. Immunol. 2009, 27:199-227.
13. De Tiege X., Rozenberg F., Heron B. The spectrum of herpes simplex encephalitis in children. Eur. J. Paediatr. Neurol. 2008, 12:72-81.
14. Dupuis S., Jouanguy E., Al-Hajjar S., Fieschi C., Al-Mohsen I.Z., Al-Jumaah S., Yang K., Chapgier A., Eidenschenk C., Eid P., et al. Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency. Nat. Genet. 2003, 33:388-391.
15. Filipe-Santos O., Bustamante J., Haverkamp M.H., Vinolo E., Ku C.L., Puel A., Frucht D.M., Christel K., von Bernuth H., Jouanguy E., et al. X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production. J. Exp. Med. 2006, 203:1745-1759.
16. Gardam S., Sierro F., Basten A., Mackay F., Brink R. TRAF2 and TRAF3 signal adapters act cooperatively to control the maturation and survival signals delivered to B cells by the BAFF receptor. Immunity 2008, 28:391-401.
17. Giraffa G., Rossetti L., Neviani E. An evaluation of chelex-based DNA purification protocols for the typing of lactic acid bacteria. J. Microbiol. Methods 2000, 42:175-184.
18. Graham J.P., Moore C.R., Bishop G.A. Roles of the TRAF2/3 binding site in differential B cell signaling by CD40 and its viral oncogenic mimic, LMP1. J. Immunol. 2009, 183:2966-2973.
19. Hacker H., Redecke V., Blagoev B., Kratchmarova I., Hsu L.C., Wang G.G., Kamps M.P., Raz E., Wagner H., Hacker G., et al. Specificity in Toll-like receptor signalling through distinct effector functions of TRAF3 and TRAF6. Nature 2006, 439:204-207.
20. He J.Q., Zarnegar B., Oganesyan G., Saha S.K., Yamazaki S., Doyle S.E., Dempsey P.W., Cheng G. Rescue of TRAF3-null mice by p100 NF-kappa B deficiency. J. Exp. Med. 2006, 203:2413-2418.
21. He J.Q., Oganesyan G., Saha S.K., Zarnegar B., Cheng G. TRAF3 and its biological function. Adv. Exp. Med. Biol. 2007, 597:48-59.
22. Hoebe K., Beutler B. TRAF3: a new component of the TLR-signaling apparatus. Trends Mol. Med. 2006, 12:187-189.
23. Keats J.J., Fonseca R., Chesi M., Schop R., Baker A., Chng W.J., Van Wier S., Tiedemann R., Shi C.X., Sebag M., et al. Promiscuous mutations activate the noncanonical NF-kappaB pathway in multiple myeloma. Cancer Cell 2007, 12:131-144.
24. Kuai J., Nickbarg E., Wooters J., Qiu Y., Wang J., Lin L.L. Endogenous association of TRAF2, TRAF3, cIAP1, and Smac with lymphotoxin beta receptor reveals a novel mechanism of apoptosis. J. Biol. Chem. 2003, 278:14363-14369.
25. Michallet M.C., Meylan E., Ermolaeva M.A., Vazquez J., Rebsamen M., Curran J., Poeck H., Bscheider M., Hartmann G., Konig M., et al. TRADD protein is an essential component of the RIG-like helicase antiviral pathway. Immunity 2008, 28:651-661.
26. Oganesyan G., Saha S.K., Guo B., He J.Q., Shahangian A., Zarnegar B., Perry A., Cheng G. Critical role of TRAF3 in the Toll-like receptor-dependent and -independent antiviral response. Nature 2006, 439:208-211.
27. Pellat-Deceunynck C., Jego G., Harousseau J.L., Vie H., Bataille R. Isolation of human lymphocyte antigens class I-restricted cytotoxic T lymphocytes against autologous myeloma cells. Clin. Cancer Res. 1999, 5:705-709.
28. Picard C., Puel A., Bonnet M., Ku C.L., Bustamante J., Yang K., Soudais C., Dupuis S., Feinberg J., Fieschi C., et al. Pyogenic bacterial infections in humans with IRAK-4 deficiency. Science 2003, 299:2076-2079.
29. Pichlmair A., Schulz O., Tan C.P., Naslund T.I., Liljestrom P., Weber F., Reis e Sousa C. RIG-I-mediated antiviral responses to single-stranded RNA bearing 5'-phosphates. Science 2006, 314:997-1001.
30. Pullen S.S., Labadia M.E., Ingraham R.H., McWhirter S.M., Everdeen D.S., Alber T., Crute J.J., Kehry M.R. High-affinity interactions of tumor necrosis factor receptor-associated factors (TRAFs) and CD40 require TRAF trimerization and CD40 multimerization. Biochemistry 1999, 38:10168-10177.
31. Sasaki Y., Calado D.P., Derudder E., Zhang B., Shimizu Y., Mackay F., Nishikawa S., Rajewsky K., Schmidt-Supprian M. NIK overexpression amplifies, whereas ablation of its TRAF3-binding domain replaces BAFF:BAFF-R-mediated survival signals in B cells. Proc. Natl. Acad. Sci. USA 2008, 105:10883-10888.
32. Tseng P.H., Matsuzawa A., Zhang W., Mino T., Vignali D.A., Karin M. Different modes of ubiquitination of the adaptor TRAF3 selectively activate the expression of type I interferons and proinflammatory cytokines. Nat. Immunol. 2010, 11:70-75.
33. Vallabhapurapu S., Matsuzawa A., Zhang W., Tseng P.H., Keats J.J., Wang H., Vignali D.A., Bergsagel P.L., Karin M. Nonredundant and complementary functions of TRAF2 and TRAF3 in a ubiquitination cascade that activates NIK-dependent alternative NF-kappaB signaling. Nat. Immunol. 2008, 9:1364-1370.
34. von Bernuth H., Picard C., Jin Z., Pankla R., Xiao H., Ku C.L., Chrabieh M., Mustapha I.B., Ghandil P., Camcioglu Y., et al. Pyogenic bacterial infections in humans with MyD88 deficiency. Science 2008, 321:691-696.
35. Warnatz K., Salzer U., Rizzi M., Fischer B., Gutenberger S., Bohm J., Kienzler A.K., Pan-Hammarstrom Q., Hammarstrom L., Rakhmanov M., et al. B-cell activating factor receptor deficiency is associated with an adult-onset antibody deficiency syndrome in humans. Proc. Natl. Acad. Sci. USA 2009, 106:13945-13950.
36. Whitley R.J. Herpes simplex encephalitis: adolescents and adults. Antiviral Res. 2006, 71:141-148.
37. Xu L.G., Shu H.B. TNFR-associated factor-3 is associated with BAFF-R and negatively regulates BAFF-R-mediated NF-kappa B activation and IL-10 production. J. Immunol. 2002, 169:6883-6889.
38. Xu Y., Cheng G., Baltimore D. Targeted disruption of TRAF3 leads to postnatal lethality and defective T-dependent immune responses. Immunity 1996, 5:407-415.
39. Yang K., Puel A., Zhang S., Eidenschenk C., Ku C.L., Casrouge A., Picard C., von Bernuth H., Senechal B., Plancoulaine S., et al. Human TLR-7-, -8-, and -9-mediated induction of IFN-alpha/beta and -lambda Is IRAK-4 dependent and redundant for protective immunity to viruses. Immunity 2005, 23:465-478.
40. Zarnegar B.J., Wang Y., Mahoney D.J., Dempsey P.W., Cheung H.H., He J., Shiba T., Yang X., Yeh W.C., Mak T.W., et al. Noncanonical NF-kappaB activation requires coordinated assembly of a regulatory complex of the adaptors cIAP1, cIAP2, TRAF2 and TRAF3 and the kinase NIK. Nat. Immunol. 2008, 9:1371-1378.
41. Zhang S.Y., Jouanguy E., Ugolini S., Smahi A., Elain G., Romero P., Segal D., Sancho-Shimizu V., Lorenzo L., Puel A., et al. TLR3 deficiency in patients with herpes simplex encephalitis. Science 2007, 317:1522-1527.