Inborn errors of anti-viral interferon immunity in humans

Current Opinion in Virology

Volumn 1, Issue 6, 2011, Pages 487-496

  Sancho Shimizu, Vanessa ^a,b   Perez De Diego, Rebeca ^a,b   Jouanguy, Emmanuelle ^a,b,c   Zhang, Shen Ying ^a,b,c   Casanova, Jean Laurent ^a,b,c,d  

^a IMAGINE INSTITUTE   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c ROCKEFELLER UNIVERSITY   (United States)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

I KAPPA B KINASE GAMMA; INTERFERON; PROTEIN KINASE TYK2; STAT1 PROTEIN; TOLL LIKE RECEPTOR 3; TOLL LIKE RECEPTOR ADAPTOR MOLECULE 1; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED FACTOR 3;

ANTIVIRAL ACTIVITY; ARTICLE; HERPES SIMPLEX ENCEPHALITIS; HERPES SIMPLEX VIRUS 1; HUMAN; IMMUNOSTIMULATION; INTERFERON PRODUCTION; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; VIRUS IMMUNITY; VIRUS INFECTION;

EID: 82955167855     PISSN: 18796257     EISSN: 18796265     Source Type: Journal    
DOI: 10.1016/j.coviro.2011.10.016     Document Type: Review

References (128)

1. A. Isaacs, and J. Lindenmann Virus interference. I. The interferon Proc R Soc Lond B Biol Sci 147 927 1957 258 267
2. Y. Nagano, Y. Kojima, and Y. Sawai Immunity and interference in vaccinia; inhibition of skin infection by inactivated virus C R Seances Soc Biol Fil 148 7-8 1954 750 752
3. I. Gresser The antitumor effects of interferon: a personal history Biochimie 89 6-7 2007 723 728 (Pubitemid 47001638)
4. E. Jouanguy, S.Y. Zhang, A. Chapgier, V. Sancho-Shimizu, A. Puel, C. Picard, S. Boisson-Dupuis, L. Abel, and J.L. Casanova Human primary immunodeficiencies of type I interferons Biochimie 89 6-7 2007 878 883 (Pubitemid 47001646)
5. I. Gresser Wherefore interferon? J Leukoc Biol 61 5 1997 567 574 (Pubitemid 27234453)
6. S. Pestka, C.D. Krause, and M.R. Walter Interferons, interferon-like cytokines, and their receptors Immunol Rev 202 2004 8 32 (Pubitemid 39576902)
7. P. Genin, A. Vaccaro, and A. Civas The role of differential expression of human interferon - a genes in antiviral immunity Cytokine Growth Factor Rev 20 4 2009 283 295
8. C. Thomas Structural linkage between ligand discrimination and receptor activation by type I interferons Cell 146 4 2011 621 632
9. C. Bogdan The function of type I interferons in antimicrobial immunity Curr Opin Immunol 12 4 2000 419 424 (Pubitemid 30410347)
10. R. Deonarain, A. Alcami, M. Alexiou, M.J. Dallman, D.R. Gewert, and A.C Porter Impaired antiviral response and alpha/beta interferon induction in mice lacking beta interferon J Virol 74 7 2000 3404 3409 (Pubitemid 30143766)
11. G. Trinchieri, and Type I interferon: friend or foe? J Exp Med 207 10 2010 2053 2063
12. E.A. Bach, M. Aguet, and R.D. Schreiber The IFN gamma receptor: a paradigm for cytokine receptor signaling Annu Rev Immunol 15 1997 563 591 (Pubitemid 27169292)
13. J. Vilcek Fifty years of interferon research: aiming at a moving target Immunity 25 3 2006 343 348 (Pubitemid 44354219)
14. M.F. van den Broek, U. Muller, S. Huang, R.M. Zinkernagel, and M. Aguet Immune defence in mice lacking type I and/or type II interferon receptors Immunol Rev 148 1995 5 18 (Pubitemid 26010539)
15. C.F. Nathan, H.W. Murray, M.E. Wiebe, and B.Y. Rubin Identification of interferon-gamma as the lymphokine that activates human macrophage oxidative metabolism and antimicrobial activity J Exp Med 158 3 1983 670 689 (Pubitemid 13051337)
16. O. Filipe-Santos Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features Semin Immunol 18 6 2006 347 361 (Pubitemid 44540199)
17. S.Y. Zhang Inborn errors of interferon (IFN)-mediated immunity in humans: insights into the respective roles of IFN-alpha/beta, IFN-gamma, and IFN-lambda in host defense Immunol Rev 226 2008 29 40
18. P. Sheppard IL-28, IL-29 and their class II cytokine receptor IL-28R Nat Immunol 4 1 2003 63 68 (Pubitemid 36104710)
19. S.V. Kotenko IFN-lambdas mediate antiviral protection through a distinct class II cytokine receptor complex Nat Immunol 4 1 2003 69 77 (Pubitemid 36109115)
20. G. Uze, and D. Monneron IL-28 and IL-29: newcomers to the interferon family Biochimie 89 6-7 2007 729 734 (Pubitemid 47001631)
21. N. Ank, H. West, C. Bartholdy, K. Eriksson, A.R. Thomsen, and S.R. Paludan Lambda interferon (IFN-lambda), a type III IFN, is induced by viruses and IFNs and displays potent antiviral activity against select virus infections in vivo J Virol 80 9 2006 4501 4509
22. S.V. Kotenko IFN-lambdas Curr Opin Immunol 2011
23. Crow YJ: Type I interferonpathies: a novel set of inborn errors of immunity. Ann N Y Acad Sci, in press.
24. F. Najioullah, S. Bosshard, D. Thouvenot, A. Boibieux, B. Menager, F. Biron, M. Aymard, and B. Lina Diagnosis and surveillance of herpes simplex virus infection of the central nervous system J Med Virol 61 4 2000 468 473 (Pubitemid 30450688)
25. E. Puchhammer-Stockl, E. Presterl, C. Croy, S. Aberle, T. Popow-Kraupp, M. Kundi, H. Hofmann, U. Wenninger, and I. Godl Screening for possible failure of herpes simplex virus PCR in cerebrospinal fluid for the diagnosis of herpes simplex encephalitis J Med Virol 64 4 2001 531 536 (Pubitemid 32613742)
26. R.J. Whitley Herpes simplex virus in children Curr Treat Options Neurol 4 3 2002 231 237
27. R.J. Whitley, and F. Lakeman Herpes simplex virus infections of the central nervous system: therapeutic and diagnostic considerations Clin Infect Dis 20 2 1995 414 420
28. V. Sancho-Shimizu, S.Y. Zhang, L. Abel, M. Tardieu, F. Rozenberg, E. Jouanguy, and J.L Casanova Genetic susceptibility to herpes simplex virus 1 encephalitis in mice and humans Curr Opin Allergy Clin Immunol 7 6 2007 495 505 (Pubitemid 350076444)
29. L. Abel Age-dependent Mendelian predisposition to herpes simplex virus type 1 encephalitis in childhood J Pediatr 157 4 2010 p. 623-9, 629e1
30. M. Studahl, and B. Skoldenberg Herpes simplex encephalitis and other neurological syndromes caused by herpes simplex virus-1 M. Studahl, P. Cinque, T. Bergstrom, Herpes simplex viruses 2006 Taylot & Francis New York 275 316
31. P. Norberg, T. Bergstrom, E. Rekabdar, M. Lindh, and J.A. Liljeqvist Phylogenetic analysis of clinical herpes simplex virus type 1 isolates identified three genetic groups and recombinant viruses J Virol 78 19 2004 10755 10764 (Pubitemid 39268907)
32. T. Bergstrom Pathogenesis M. Sudahl, P. Cinque, T. Bergstrom, Herpes Simplex Viruses 2006 Taylor & Francis New York 99 117
33. K. Schroder, P.J. Hertzog, T. Ravasi, and D.A. Hume Interferon-gamma: an overview of signals, mechanisms and functions J Leukoc Biol 75 2 2004 163 189 (Pubitemid 38174573)
34. A.H. van Boxel-Dezaire, M.R. Rani, and G.R. Stark Complex modulation of cell type-specific signaling in response to type I interferons Immunity 25 3 2006 361 372 (Pubitemid 44354225)
35. S. Dupuis, C. Dargemont, C. Fieschi, N. Thomassin, S. Rosenzweig, J. Harris, S.M. Holland, R.D. Schreiber, and J.L. Casanova Impairment of mycobacterial but not viral immunity by a germline human STAT1 mutation Science 293 5528 2001 300 303 (Pubitemid 32694746)
36. A. Chapgier Novel STAT1 alleles in otherwise healthy patients with mycobacterial disease PLoS Genet 2 8 2006 e131
37. I.A. Kristensen, J.E. Veirum, B.K. Moller, and M. Christiansen Novel STAT1 alleles in a patient with impaired resistance to mycobacteria J Clin Immunol 31 2 2011 265 271
38. A. Chapgier, R.F. Wynn, E. Jouanguy, O. Filipe-Santos, S. Zhang, J. Feinberg, K. Hawkins, J.L. Casanova, and P.D. Arkwright 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 176 8 2006 5078 5083
39. S. Dupuis Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency Nat Genet 33 3 2003 388 391 (Pubitemid 36278855)
40. D. Vairo Severe impairment of IFN-{gamma} and IFN-{alpha} responses in cells of a patient with a novel STAT1 splicing mutation Blood 118 7 2011 1806 1817
41. D. Averbuch, A. Chapgier, S. Boisson-Dupuis, J.L. Casanova, and D. Engelhard The clinical spectrum of patients with deficiency of signal transducer and activator of transcription-1 Pediatr Infect Dis J 30 4 2011 352 355
42. X.F. Kong A novel form of human STAT1 deficiency impairing early but not late responses to interferons Blood 116 26 2010 5895 5906
43. A. Chapgier A partial form of recessive STAT1 deficiency in humans J Clin Invest 119 6 2009 1502 1514
44. L. Liu Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis J Exp Med 208 8 2011 1635 1648
45. F.L. van de Veerdonk STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis N Engl J Med 365 1 2011 54 61
46. A. Puel Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity Science 332 6025 2011 65 68
47. G.R. Stark, I.M. Kerr, B.R. Williams, R.H. Silverman, and R.D. Schreiber How cells respond to interferons Annu Rev Biochem 67 1998 227 264 (Pubitemid 28411130)
48. L. Velazquez, M. Fellous, G.R. Stark, and S. Pellegrini A protein tyrosine kinase in the interferon alpha/beta signaling pathway Cell 70 2 1992 313 322
49. G. Uze, G. Schreiber, J. Piehler, and S. Pellegrini The receptor of the type I interferon family Curr Top Microbiol Immunol 316 2007 71 95
50. C.M. Bacon, D.W. McVicar, J.R. Ortaldo, R.C. Rees, J.J. O'Shea, and J.A. Johnston Interleukin 12 (IL-12) induces tyrosine phosphorylation of JAK2 and TYK2: differential use of Janus family tyrosine kinases by IL-2 and IL-12 J Exp Med 181 1 1995 399 404
51. N. Stahl Association and activation of Jak-Tyk kinases by CNTF-LIF-OSM-IL-6 beta receptor components Science 263 5143 1994 92 95 (Pubitemid 24076263)
52. Y. Minegishi Human tyrosine kinase 2 deficiency reveals its requisite roles in multiple cytokine signals involved in innate and acquired immunity Immunity 25 5 2006 745 755 (Pubitemid 46131400)
53. A. Puel Recurrent staphylococcal cellulitis and subcutaneous abscesses in a child with autoantibodies against IL-6 J Immunol 180 1 2008 647 654
54. J. Heimall, A. Freeman, and S.M. Holland Pathogenesis of hyper IgE syndrome Clin Rev Allergy Immunol 38 1 2010 32 38
55. A. Puel, C. Picard, C.L. Ku, A. Smahi, and J.L. Casanova Inherited disorders of NF-kappaB-mediated immunity in man Curr Opin Immunol 16 1 2004 34 41 (Pubitemid 38198115)
56. T. Zhao, L. Yang, Q. Sun, M. Arguello, D.W. Ballard, J. Hiscott, and R. Lin The NEMO adaptor bridges the nuclear factor-kappaB and interferon regulatory factor signaling pathways Nat Immunol 8 6 2007 592 600 (Pubitemid 46785123)
57. A. Smahi, G. Courtois, S.H. Rabia, R. Doffinger, C. Bodemer, A. Munnich, J.L. Casanova, and A. Israel The NF-kappaB signalling pathway in human diseases: from incontinentia pigmenti to ectodermal dysplasias and immune-deficiency syndromes Hum Mol Genet 11 20 2002 2371 2375 (Pubitemid 35174700)
58. C.L. Ku Inherited disorders of human Toll-like receptor signaling: immunological implications Immunol Rev 203 2005 10 20
59. H. von Bernuth Pyogenic bacterial infections in humans with MyD88 deficiency Science 321 5889 2008 691 696
60. C. Picard Pyogenic bacterial infections in humans with IRAK-4 deficiency Science 299 5615 2003 2076 2079 (Pubitemid 36383736)
61. J.L. Casanova, L. Abel, and L. Quintana-Murci Human TLRs and IL-1Rs in host defense: natural insights from evolutionary, epidemiological, and clinical genetics Annu Rev Immunol 29 2011 447 491
62. O. Filipe-Santos X-linked susceptibility to mycobacteria is caused by mutations in NEMO impairing CD40-dependent IL-12 production J Exp Med 203 7 2006 1745 1759 (Pubitemid 44036280)
63. A. Puel The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation Am J Hum Genet 78 4 2006 691 701
64. J.S. Orange, O. Levy, S.R. Brodeur, K. Krzewski, R.M. Roy, J.E. Niemela, T.A. Fleisher, F.A. Bonilla, and R.S. Geha Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia J Allergy Clin Immunol 114 3 2004 650 656 (Pubitemid 39194943)
65. T. Niehues Nuclear factor kappaB essential modulator-deficient child with immunodeficiency yet without anhidrotic ectodermal dysplasia J Allergy Clin Immunol 114 6 2004 1456 1462 (Pubitemid 39575905)
66. J. Hiscott, D. Alper, L. Cohen, J.F. Leblanc, L. Sportza, A. Wong, and S. Xanthoudakis Induction of human interferon gene expression is associated with a nuclear factor that interacts with the NF-kappa B site of the human immunodeficiency virus enhancer J Virol 63 6 1989 2557 2566 (Pubitemid 19137531)
67. S.J. Thomson, F.G. Goh, H. Banks, T. Krausgruber, S.V. Kotenko, B.M. Foxwell, and I.A. Udalova The role of transposable elements in the regulation of IFN-lambda1 gene expression Proc Natl Acad Sci USA 106 28 2009 11564 11569
68. K.V. Visvanathan, and S. Goodbourn Double-stranded RNA activates binding of NF-kappa B to an inducible element in the human beta-interferon promoter Embo J 8 4 1989 1129 1138 (Pubitemid 19273280)
69. D. Thanos, and T. Maniatis The high mobility group protein HMG I(Y) is required for NF-kappa B-dependent virus induction of the human IFN-beta gene Cell 71 5 1992 777 789
70. M. Audry NEMO is a key component of NF-kappaB- and IRF-3-dependent TLR3-mediated immunity to herpes simplex virus J Allergy Clin Immunol 2011
71. S. Akira, S. Uematsu, and O. Takeuchi Pathogen recognition and innate immunity Cell 124 4 2006 783 801 (Pubitemid 43261452)
72. T. Kawai, and S. Akira Toll-like receptors and their crosstalk with other innate receptors in infection and immunity Immunity 34 5 2011 637 650
73. S.Y. Zhang, E. Jouanguy, V. Sancho-Shimizu, H. von Bernuth, K. Yang, L. Abel, C. Picard, A. Puel, and J.L. Casanova Human Toll-like receptor-dependent induction of interferons in protective immunity to viruses Immunol Rev 220 2007 225 236 (Pubitemid 350045567)
74. K. Onoguchi, M. Yoneyama, and T. Fujita Retinoic acid-inducible gene-I-like receptors J Interferon Cytokine Res 31 1 2011 27 31
75. T. Matsumiya, T. Imaizumi, H. Yoshida, and K. Satoh Antiviral signaling through retinoic acid-inducible gene-I-like receptors Arch Immunol Ther Exp (Warsz) 59 1 2011 41 48
76. M.K. Choi A selective contribution of the RIG-I-like receptor pathway to type I interferon responses activated by cytosolic DNA Proc Natl Acad Sci USA 106 42 2009 17870 17875
77. J. Rehwinkel RIG-I detects viral genomic RNA during negative-strand RNA virus infection Cell 140 3 2010 397 408
78. A. Sabbah, T.H. Chang, R. Harnack, V. Frohlich, K. Tominaga, P.H. Dube, Y. Xiang, and S. Bose Activation of innate immune antiviral responses by Nod2 Nat Immunol 10 10 2009 1073 1080
79. Z. Zhang, T. Kim, M. Bao, V. Facchinetti, S.Y. Jung, A.A. Ghaffari, J. Qin, G. Cheng, and Y.J. Liu DDX1, DDX21, and DHX36 helicases form a complex with the adaptor molecule TRIF to sense dsRNA in dendritic cells Immunity 34 6 2011 866 878
80. M. Miyashita, H. Oshiumi, M. Matsumoto, and T. Seya DDX60, a DEXD/H box helicase, is a novel antiviral factor promoting RIG-I-Like receptor-mediated signaling Mol Cell Biol 31 18 2011 3802 3819
81. Z. Zhang, B. Yuan, N. Lu, V. Facchinetti, and Y.J. Liu DHX9 pairs with IPS-1 to sense double-stranded RNA in myeloid dendritic cells J Immunol 2011
82. A. Ablasser, F. Bauernfeind, G. Hartmann, E. Latz, K.A. Fitzgerald, and V. Hornung RIG-I-dependent sensing of poly(dA:dT) through the induction of an RNA polymerase III-transcribed RNA intermediate Nat Immunol 10 10 2009 1065 1072
83. Y.H. Chiu, J.B. Macmillan, and Z.J. Chen RNA polymerase III detects cytosolic DNA and induces type I interferons through the RIG-I pathway Cell 138 3 2009 576 591
84. Z. Zhang, B. Yuan, M. Bao, N. Lu, T. Kim, and Y.J. Liu The helicase DDX41 senses intracellular DNA mediated by the adaptor STING in dendritic cells Nat Immunol 2011
85. L. Unterholzner IFI16 is an innate immune sensor for intracellular DNA Nat Immunol 11 11 2010 997 1004
86. K.J. Ishii TANK-binding kinase-1 delineates innate and adaptive immune responses to DNA vaccines Nature 451 7179 2008 725 729 (Pubitemid 351220566)
87. A. Takaoka DAI (DLM-1/ZBP1) is a cytosolic DNA sensor and an activator of innate immune response Nature 448 7152 2007 501 505 (Pubitemid 47123520)
88. H. Ishikawa, and G.N. Barber STING is an endoplasmic reticulum adaptor that facilitates innate immune signalling Nature 455 7213 2008 674 678
89. B. Zhong The adaptor protein MITA links virus-sensing receptors to IRF3 transcription factor activation Immunity 29 4 2008 538 550
90. W. Sun ERIS, an endoplasmic reticulum IFN stimulator, activates innate immune signaling through dimerization Proc Natl Acad Sci USA 106 21 2009 8653 8658
91. D.L. Burdette, K.M. Monroe, K. Sotelo-Troha, J.S. Iwig, B. Eckert, M. Hyodo, Y. Hayakawa, and R.E. Vance STING is a direct innate immune sensor of cyclic di-GMP Nature 2011
92. H.S. Suh, C.F. Brosnan, and S.C. Lee Toll-like receptors in CNS viral infections Curr Top Microbiol Immunol 336 2009 63 81
93. S. Saitoh, and K. Miyake Regulatory molecules required for nucleotide-sensing Toll-like receptors Immunol Rev 227 1 2009 32 43
94. A. Casrouge Herpes simplex virus encephalitis in human UNC-93B deficiency Science 314 5797 2006 308 312 (Pubitemid 44571977)
95. M.M. Brinkmann, E. Spooner, K. Hoebe, B. Beutler, H.L. Ploegh, and Y.M. Kim The interaction between the ER membrane protein UNC93B and TLR3, 7, and 9 is crucial for TLR signaling J Cell Biol 177 2 2007 265 275 (Pubitemid 46658638)
96. Y.M. Kim, M.M. Brinkmann, M.E. Paquet, and H.L. Ploegh UNC93B1 delivers nucleotide-sensing toll-like receptors to endolysosomes Nature 452 7184 2008 234 238 (Pubitemid 351380247)
97. L.B. Barreiro Evolutionary dynamics of human Toll-like receptors and their different contributions to host defense PLoS Genet 5 7 2009 e1000562
98. A.L. Blasius, and B. Beutler Intracellular toll-like receptors Immunity 32 3 2010 305 315
99. K. Tabeta The Unc93b1 mutation 3d disrupts exogenous antigen presentation and signaling via Toll-like receptors 3, 7 and 9 Nat Immunol 7 2 2006 156 164 (Pubitemid 43135881)
100. K. Yang 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 23 5 2005 465 478 (Pubitemid 41587887)
101. C.L. Ku IRAK4 and NEMO mutations in otherwise healthy children with recurrent invasive pneumococcal disease J Med Genet 44 1 2007 16 23
102. C. Picard Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency Medicine (Baltimore) 89 6 2011 403 425
103. S.Y. Zhang TLR3 deficiency in patients with herpes simplex encephalitis Science 317 5844 2007 1522 1527
104. C. Gorbea A role for Toll-like receptor 3 variants in host susceptibility to enteroviral myocarditis and dilated cardiomyopathy J Biol Chem 285 30 2010 23208 23223
105. Y. Guo Herpes simplex virus encephalitis in a patient with complete TLR3 deficiency: TLR3 is otherwise redundant in protective immunity J Exp Med 208 10 2011 2083 2098
106. Sancho-Shimizu, V., et al., Herpes simplex encephalitis in patients with autosomal recessive and dominant TRIF deficiency. J Clin Invest, in press
107. M. Yamamoto Role of adaptor TRIF in the MyD88-independent toll-like receptor signaling pathway Science 301 5633 2003 640 643 (Pubitemid 36927946)
108. K. Hoebe Identification of Lps2 as a key transducer of MyD88-independent TIR signalling Nature 424 6950 2003 743 748 (Pubitemid 37021696)
109. K. Funami, M. Sasai, Y. Ohba, H. Oshiumi, T. Seya, and M. Matsumoto Spatiotemporal mobilization of Toll/IL-1 receptor domain-containing adaptor molecule-1 in response to dsRNA J Immunol 179 10 2007 6867 6872
110. K. Funami, M. Sasai, H. Oshiumi, T. Seya, and M. Matsumoto Homo-oligomerization is essential for Toll/interleukin-1 receptor domain-containing adaptor molecule-1-mediated NF-kappaB and interferon regulatory factor-3 activation J Biol Chem 283 26 2008 18283 18291
111. M. Karin, and E. Gallagher TNFR signaling: ubiquitin-conjugated TRAFfic signals control stop-and-go for MAPK signaling complexes Immunol Rev 228 1 2009 225 240
112. H. Hacker, P.H. Tseng, and M. Karin Expanding TRAF function: TRAF3 as a tri-faced immune regulator Nat Rev Immunol 11 7 2011 457 468
113. E.M. Pietras, S.K. Saha, and G. Cheng The interferon response to bacterial and viral infections J Endotoxin Res 12 4 2006 246 250 (Pubitemid 47470168)
114. R. Perez de Diego Human TRAF3 adaptor molecule deficiency leads to impaired Toll-like receptor 3 response and susceptibility to herpes simplex encephalitis Immunity 33 3 2010 400 411
115. C. Prehaud, F. Megret, M. Lafage, and M. Lafon Virus infection switches TLR-3-positive human neurons to become strong producers of beta interferon J Virol 79 20 2005 12893 12904 (Pubitemid 41433208)
116. M. Bsibsi, R. Ravid, D. Gveric, and J.M. van Noort Broad expression of Toll-like receptors in the human central nervous system J Neuropathol Exp Neurol 61 11 2002 1013 1021 (Pubitemid 35278723)
117. S. Fornarino, G. Laval, L.B. Barreiro, J. Manry, E. Vasseur, and L. Quintana-Murci Evolution of the TIR domain-containing adaptors in humans: swinging between constraint and adaptation Mol Biol Evol 2011
118. T. Shigemoto, M. Kageyama, R. Hirai, J. Zheng, M. Yoneyama, and T. Fujita Identification of loss of function mutations in human genes encoding RIG-I and MDA5: implications for resistance to type I diabetes J Biol Chem 284 20 2009 13348 13354
119. J. Pothlichet Study of human RIG-I polymorphisms identifies two variants with an opposite impact on the antiviral immune response PLoS One 4 10 2009 e7582
120. L. Quintana-Murci, and L.B. Barreiro The role played by natural selection on Mendelian traits in humans Ann N Y Acad Sci 1214 2010 1 17
121. A. Alcais, L. Quintana-Murci, D.S. Thaler, E. Schurr, L. Abel, and J.L. Casanova Life-threatening infectious diseases of childhood: single-gene inborn errors of immunity? Ann N Y Acad Sci 1214 2010 18 33
122. J.L. Casanova, and L. Abel Primary immunodeficiencies: a field in its infancy Science 317 5838 2007 617 619 (Pubitemid 47229951)
123. V. Suppiah IL28B is associated with response to chronic hepatitis C interferon-alpha and ribavirin therapy Nat Genet 41 10 2009 1100 1104
124. D. Ge Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance Nature 461 7262 2009 399 401
125. Y. Tanaka Genome-wide association of IL28B with response to pegylated interferon-alpha and ribavirin therapy for chronic hepatitis C Nat Genet 41 10 2009 1105 1109
126. D.L. Thomas Genetic variation in IL28B and spontaneous clearance of hepatitis C virus Nature 461 7265 2009 798 801
127. E.O. Glocker, D. Kotlarz, and K. Boztug Inflammatory bowel disease and mutations affecting the interleukin-10 receptor N Engl J Med 361 21 2009 2033 2045
128. E.O. Glocker, N. Frede, and M. Perro Infant colitis-it's in the genes Lancet 376 9748 2010 1272