Pattern recognitions receptors in immunodeficiency disorders

European Journal of Pharmacology

Volumn 808, Issue , 2017, Pages 49-56

  Mortaz, Esameil ^a,b   Adcock, Ian M ^c   Tabarsi, Payam ^b   Darazam, Ilad Alavi ^d   Movassaghi, Masoud ^e   Garssen, Johan ^f,g   Jamaati, Hamidreza ^h   Velayati, Aliakbar ⁱ  

^a SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^b SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^c NATIONAL HEART AND LUNG INSTITUTE   (United Kingdom)

^d SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

^e UNIVERSITY OF CALIFORNIA   (United States)

^f UTRECHT UNIVERSITY   (Netherlands)

^g DANONE NUTRICIA RESEARCH   (Netherlands)

^h SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

ⁱ SHAHID BEHESHTI UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

Chronic granulomatous disease; IgE syndrome; Primary immune deficiencies; TLRs

Indexed keywords

INTERLEUKIN 17; PATTERN RECOGNITION RECEPTOR; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE PHOSPHATE OXIDASE; STAT1 PROTEIN; STAT3 PROTEIN; TOLL LIKE RECEPTOR 5;

ARTICLE; CANDIDA; CHRONIC GRANULOMATOUS DISEASE; COMMON VARIABLE IMMUNODEFICIENCY; HERPES SIMPLEX ENCEPHALITIS; HUMAN; HYPER IMMUNOGLOBULIN E SYNDROME; IMMUNE DEFICIENCY; INNATE IMMUNITY; LEGIONELLA PNEUMOPHILA; LEGIONNAIRE DISEASE; MENDELIAN SUSCEPTIBILITY TO MYCOBACTERIAL DISEASE; MYCOBACTERIOSIS; NONHUMAN; PRIMARY IMMUNODEFICIENCY DISORDER; PRIORITY JOURNAL; PROTEIN FUNCTION; SIGNAL TRANSDUCTION; TH17 CELL; ANIMAL; BACTERIAL INFECTION; IMMUNOPATHOLOGY; METABOLISM;

ANIMALS; BACTERIAL INFECTIONS; HUMANS; IMMUNE SYSTEM DISEASES; RECEPTORS, PATTERN RECOGNITION;

EID: 85010933965     PISSN: 00142999     EISSN: 18790712     Source Type: Journal    
DOI: 10.1016/j.ejphar.2017.01.014     Document Type: Article

References (127)

1. Alexopoulou, L., Recognition of double-stranded RNA and activation of NF-kappaB by Toll-like receptor 3. Nature 413 (2001), 732–738.
2. Al-Herz, W., Bousfiha, A., Casanova, J.L., et al. Primary immunodeficiency diseases: an update on the classification from the international union of immunological societies expert committee for primary immunodeficiency. Front Immunol., 5, 2014, 162.
3. Alimchandani, M., Lai, J.P., Aung, P.P., et al. Gastrointestinal histopathology in chronic granulomatous disease: a study of 87 patients. Am. J. Surg. Pathol. 37:9 (2013), 1365–1372.
4. Alinejad Dizaj, M., Mahdaviani, S.A., Tabarsi, P., et al. Association of Mycobacterium infections in patients with Mendelian susceptibility to mycobacterial disease with venous thromboembolism. Microbiol Immunol. 60:10 (2016), 678–686.
5. Al-Muhsen, S., Casanova, J.L., The genetic heterogeneity of mendelian susceptibility to mycobacterial diseases. J. Allergy Clin. Immunol. 2008:122 (2008), 1043–1051.
6. Antachopoulos, C., Walsh, T.J., Roilides, E., Fungal infections in primary immunodeficiencies. Eur. J. Pedia. 166 (2007), 1099–1117.
7. Barbosa, R.R., Silva, S.P., Silva, S.L., et al. Monocyte activation is a feature of common variable immunodeficiency irrespective of plasma lipopolysaccharide levels. Clin. Exp. Immunol. 169:3 (2012), 263–272.
8. Beaut´e, J., Obenga, G., Le Mignot, L., French PID study Group CEREDIH. Epidemiology and outcome of invasive fungal diseases in patients with chronic granulomatous disease: a multicenter study in France. Pedia. Infect. Dis. J. 30 (2011), 57–62.
9. van den Berg, J.M., van Koppen, E., Ahlin, A., Chronic granulomatous disease: the European experience. Plos One, 4, 2009 (52-34).
10. Bieback, K., Hemagglutinin protein of wild-type measles virus activates toll-like receptor 2 signaling. J. Virol. 76 (2002), 8729–8736.
11. Bogunovic, D., Byun, M., Durfee, L.A., et al. Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency. Science 337:6102 (2012), 1684–1688.
12. Botto, M., Kirschfink, M., Macor, P., et al. Complement in human diseases: lessons from complement deficiencies. Mol. Immunol. 46 (2009), 2774–2783.
13. Brown, K.L., Bylund, J., MacDonald, K.L., et al. ROS-deficient monocytes have aberrant gene expression that correlates with inflammatory disorders of chronic granulomatous disease. Clin. Immunol. 129:1 (2008), 90–102.
14. Broz, P., Monack, D.M., Newly described pattern recognition receptors team up against intracellular pathogens. Nat. Rev. Immunol. 13 (2013), 551–565.
15. Buckley, R.H., Primary immunodeficiency diseases due to defects in lymphocytes. N. Engl. J. Med. 343 (2000), 1313–1324.
16. Bulut, Y., Chlamydial heat shock protein 60 activates macrophages and endothelial cells through Toll like receptor 4 and MD2 in a MyD88-dependent pathway. J. Immunol. 168 (2002), 1435–1440.
17. Bustamante, J., Picard, C., Fieschi, C., et al. A novel X-linked recessive form of Mendelian susceptibility to mycobaterial disease. J. Med Genet, 44, 2007, e65.
18. Bustamante, J., Boisson-Dupuis, S., Jouanguy, E., et al. Novel primary immunodeficiencies revealed by the investigation of paediatric infectious diseases. Curr. Opin. Immunol. 20 (2008), 39–48.
19. Bustamante, J., Arias, A.A., Vogt, G., et al. Germline CYBB mutations that selectively affect macrophages in kindreds with X-linked predisposition to tuberculous mycobacterial disease. Nat. Immunol., 12, 2011, 213e21.
20. Bylund, J., Goldblatt, D., Speert, D.P., Chronic granulomatous disease: from genetic defect to clinical presentation. Adv. Exp. Med Biol. 568 (2005), 67–87.
21. Bylund, J., MacDonald, K.L., Brown, K.L., et al. Enhanced inflammatory responses of chronic granulomatous disease leukocytes involve ROS-independent activation of NF-kappa B. Eur. J. Immunol. 37:4 (2007), 1087–1096.
22. Casanova, J.L., Abel, L., Genetic dissection of immunity to mycobacteria: the human model. Annu Rev. Immunol., 20, 2002, 581e620.
23. Casanova, J.L., Abel, L., Inborn errors of immunity to infection: the rule rather than the exception. J. Exp. Med. 202 (2005), 197–201.
24. Casanova, J.L., Jouanguy, E., Lamhamedi, S., et al. Immunological conditions of children with BCG disseminated infection. Lancet, 346, 1995, 581.
25. Casanova, J.L., Fieschi, C., Zhang, S.Y., Abel, L., Revisiting human primary immunodeficiencies. J. Intern Med 264 (2008), 115–127 (6).
26. Casrouge, A., Zhang, S.Y., Eidenschenk, C., et al. Herpes simplex virus encephalitis in human UNC-93B deficiency. Science 314:5797 (2006), 308–312.
27. Chapel, H., Cunningham-Rundles, C., Update in understanding common variable immunodeficiency disorders (CVIDs) and the management of patients with these conditions. Br. J. Haematol. 145:6 (2009), 709–727.
28. Chapgier, A., 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 (2006), 5078–5083.
29. Chapgier, A., A partial form of recessive STAT1 deficiency in humans. J. Clin. Invest. 119 (2009), 1502–1514.
30. Conti, H.R., Gaffen, S.L., Host responses to Candida albicans: th17 cells and mucosal candidiasis. Microbes Infect. 12 (2010), 518–527.
31. Conti, H.R., Baker, O., Freeman, A.F., et al. New mechanism of oral immunity to mucosal candidiasis in hyper-IgE syndrome. Mucosal Immunol. 5 (2011), 448–455.
32. Courtois, G., Smahi, A., Reichenbach, J., et al. A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency. J. Clin. Invest. 112:7 (2003), 1108–1115.
33. Cua, D.J., Tato, C.M., Innate IL-17-producing cells: the sentinels of the immune system. Nat. Rev. Immunol. 10:7 (2010), 479–489.
34. Cunningham-Rundles, C., Bodian, C., Common variable immunodeficiency: clinical and immunological features of 248 patients. Clin. Immunol. 92 (1999), 34–48.
35. Cunningham-Rundles, C., Sidi, P., Estrella, L., Doucette, J., Identifying undiagnosed primary immunodeficiency diseases in minority subjects by using computer sorting of diagnosis codes. J. Allergy Clin. Immunol. 113 (2004), 747–755.
36. Diebold, S.S., Innate antiviral responses by means of TLR7-mediated recognition of single-stranded RNA. Science 303 (2004), 1529–1531.
37. Doffinger, R., X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat. Genet. 27 (2001), 277–285.
38. Döffinger, R., Smahi, A., Bessia, C., et al. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat. Genet. 27:3 (2001), 277–285.
39. Dorman, S.E., Holland, S.M., Interferon-gamma and interleukin-12 pathway defects and human disease. Cytokine Growth Factor Rev., 11, 2000, 321e33.
40. Drage, M.G., TLR2 and its co-receptors determine responses of macrophages and dendritic cells to lipoproteins of Mycobacterium tuberculosis. Cell. Immunol. 258 (2009), 29–37.
41. Dropulic, L.K., Cohen, J.I., Severe viral infections and primary immunodeficiencies. Clin. Infect. Dis. 53:9 (2011), 897–909.
42. Dupuis, S., Impaired response to interferon-alpha/beta and lethal viral disease in human STAT1 deficiency. Nat. Genet. 33 (2003), 388–391.
43. Farrell, P.J., Broeze, R.J., Lengyel, P., et al. Accumulation of an mRNA and protein in interferon-treated Ehrlich ascites tumour cells. Nature 279 (1979), 523–525.
44. Fields, B.S., Benson, R.F., Besser, R.E., Legionella and Legionnaires' disease: 25 Years of investigation. Clin. Microbiol Rev. 15 (2002), 506–526.
45. Filipe-Santos, O., Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features. Semin Immunol. 18 (2006), 347–361.
46. Freeman, A.F., Holland, S.M., Clinical manifestations of hyper IgE syndromes. Dis. Markers 29:3–4 (2010), 123–130.
47. Gardiner, G.J., Deffit, S.N., McLetchie, S., et al. A role for NADPH oxidase in antigen presentation. Front Immunol. 4 (2013), 1–6.
48. Geijtenbeek, T.B., Gringhuis, S.I., Signalling through C-type lectin receptors: shaping immune responses. Nat. Rev. Immunol. 9:7 (2009), 465–479.
49. Giovannetti, A., Pierdominici, M., Mazzetta, F., et al. Unravelling the complexity of T cell abnormalities in common variable immunodeficiency. J. Immunol. 178:6 (2007), 3932–3943.
50. Griggs, B.L., Ladd, S., Saul, R.A., et al. Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities. Genomics 5 (2008), 195–202.
51. Hamosh, A., Online Mendelian inheritance in man (OMIM), a knowledgebase of human genes and genetic disorders. Nucleic Acids Res. 33 (2005), 514–517.
52. Hampson, F.A., Chandra, A., Screaton, N.J., et al. Respiratory disease in common variable immunodeficiency and other primary immunodeficiency disorders. Clin. Radiol. 67 (2012), 558–595.
53. Hartl, D., Lehmann, N., Hoffmann, F., et al. Dysregulation of innate immune receptors on neutrophils in chronic granulomatous disease. J. Allergy Clin. Immunol. 121:2 (2008), 375–382 (e9).
54. Hatanaka, E., Carvalho, B.T., Condino-Neto, A., Campa, A., Hyperresponsiveness of neutrophils from gp 91phox deficient patients to lipopolysaccharide and serum amyloid A. Immunol. Lett. 94:1–2 (2004), 43–46.
55. Hawn, T.R., Verbon, A., Lettinga, K.D., A common dominant TLR5 stop codon polymorphism abolishes flagellin signaling and is associated with susceptibility to legionnaires' disease. J. Exp. Med. 198 (2003), 1563–1572.
56. Hawn, T.R., Dunstan, S.J., Thwaites, G.E., et al. A polymorphism in Toll-interleukin 1 receptor domain containing adaptor protein is associated with susceptibility to meningeal tuberculosis. J. Infect. Dis. 194:8 (2006), 1127–1134.
57. Hawn, T.R., Berrington, W.R., Smith, I.A., et al. Altered inflammatory responses in TLR5-deficient mice infected with Legionella pneumophila1. J. Immunol. 179 (2007), 6981–6987.
58. Hayashi, F., Smith, K.D., Ozinsky, A., The innate immune response to bacterial flagellin is mediated by Toll‐like receptor 5. Nature 410 (2001), 1099–1103.
59. Heil, F., Species-specific recognition of single stranded RNA via toll-like receptor 7 and 8. Science 303 (2004), 1526–1529.
60. Hemmi, H., A Toll-like receptor recognizes bacterial DNA. Nature 408 (2000), 740–745.
61. Holland, S.M., DeLeo, F.R., Elloumi, H.Z., et al. STAT3 mutations in the hyper-IgE syndrome. N. Engl. J. Med. 357:16 (2007), 1608–1619.
62. Jacobs, B.L., Langland, J.O., When two strands are better than one: the mediators and modulators of the cellular responses to double-stranded RNA. Virology 219 (1996), 339–349.
63. Jain, A., Specific missense mutations in NEMO result in hyper-IgM syndrome with hypohydrotic ectodermal dysplasia. Nat. Immunol. 2 (2001), 223–228.
64. Jin, M.S., Crystal structure of the TLR1 TLR2 heterodimer induced by binding of a tri-acylated lipopeptide. Cell 130 (2007), 1071–1082.
65. Jouanguy, E., Human primary immunodeficiencies of type I interferons. Biochimie 89 (2007), 878–883.
66. Kawai, T., Akira, S., Innate immune recognition of viral infection. Nat. Immunol. 7 (2006), 131–137.
67. Kawai, T., Akira, S., The role of pattern-recognition receptors in innate immunity: update on Toll-like receptors. Nat. Immunol. 11 (2010), 373–384.
68. Kenny, E.F., O'Neill, L.A., Signalling adaptors used by Toll-like receptors: an update. Cytokine 43 (2008), 342–349.
69. Kong, X.F., A novel form of human STAT1 deficiency impairing early but not late responses to interferons. Blood 116 (2010), 5895–5906.
70. Kono, H., Rock, K.L., How dying cells alert the immune system to danger. Nat. Rev. Immunol. 8 (2008), 279–289.
71. Kuhns, D.B., Alvord, W.G., Heller, T., Residual NADPH oxidase and survival in chronic granulomatous disease. N. Engl. J. Med. 363 (2010), 2600–2610.
72. Kurt-Jones, E.A., Pattern recognition receptors TLR4 and CD14 mediate response to respiratory syncytial virus. Nat. Immunol. 1 (2000), 398–401.
73. Lafaille, F.G., Pessach, I.M., Zhang, S.Y., Impaired intrin- sic immunity to HSV-1 in human iPSC-derived TLR3- deficient CNS cells. Nature 491 (2012), 769–773.
74. Laroux, F.S., Romero, X., Wetzler, L., Engel, P., Terhorst, C., Cutting edge: MyD88 controls phagocyte NADPH oxidase function and killing of gram-negative bacteria. J. Immunol. 175 (2005), 5596–5600.
75. Lee, S.M., Toll-like receptor 10 is involved in induction of innate immune responses to influenza virus infection. Proc. Nat. Acad. Sci. 111 (2014), 3793–3798.
76. Lien, E., Toll-like receptor 2 functions as a pattern recognition receptor for diverse bacterial products. J. Biol. Chem. 274 (1999), 33419–33425.
77. de Lollo, C., de Moraes Vasconcelos, D., da Silva, Oliveira, L.M., et al. Impaired CD8(+) T cell responses upon Toll-like receptor activation in common variable immunodeficiency. J. Transl. Med, 14(1), 2016, 138.
78. McLetchie, S., Volpp, B.D., Dinauer, M.C., Blum, J.S., Hyper-responsive Toll-like receptor 7 and 9 activation in NADPH oxidase-deficient B lymphoblasts. Immunology 146:4 (2015), 595–606.
79. Medzhitov, R., Damage control in host-pathogen interactions. Proc. Natl. Acad. Sci. 106 (2009), 15525–15526.
80. Medzhitov, R., Preston-Hurlburt, P., Janeway, C.A. Jr., A human homologue of the Drosophila Toll protein signals activation of adaptive immunity. Nature 388:6640 (1997), 394–397.
81. Medzhitov, R.P., Kawai, T., Akira, S., The role of pattern-recognition receptors in innate immunity: update on Toll-like receptors. Nat. Immunol. 11 (2010), 373–384.
82. Minegishi, Y., Saito, M., Morio, T., et al. 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.
83. Minegishi, Y., Saito, M., Tsuchiya, S., et al. Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. Nature 448:7157 (2007), 1058–1062.
84. Minegishi, Y., Saito, M., Nagasawa, M., et al. Molecular explanation for the contradiction between systemic Th17 defect and localized bacterial infection in hyper-IgE syndrome. J. Exp. Med. 5 (2009), 1291–1301.
85. Mortaz, E., Adcock, I.M., Tabarsi, P., et al. Interaction of pattern recognition receptors with mycobacterium tuberculosis. J. Clin. Immunol. 2015:35 (2015), 1–10.
86. Mortaz, E., Tabarsi, P., Mansouri, D., et al. Cancers Related to Immunodeficiencies: update and perspectives. Front Immunol., 7, 2016, 365.
87. Mutoh, N., Watabe, H., Chieda, K., Tani-Ishii, N., Expression of Toll-like receptor 2 and 4 in inflamed pulp in severe combined immunodeficiency mice. J. Endod. 35:7 (2009), 975–980.
88. Netea, M.G., van der Meer, J.W., Immunodeficiency and genetic defects of pattern-recognition receptors. N. Engl. J. Med. 364 (2011), 60–70.
89. Notarangelo, L.D., Fischer, A., Geha, R.S., et al. Primary immunodeficiencies: 2009 update. J. Allergy Clin. Immunol. 124 (2009), 1161–1178.
90. O'Neill, L.A., Bowie, A.G., The family of five: TIR-domain-containing adaptors in Toll-like receptor signalling. Nat. Rev. Immunol. 7 (2007), 353–364.
91. Oosting, M., Human TLR10 is an anti-inflammatory pattern-recognition receptor. Proc. Nat. Acad. Sci. 111 (2014), 4478–4484.
92. Ouyang, W., Koli, J.K., Zheng, Y., The biological functions of T helper 17 cell effector cytokines in inflammation. Immunity 28 (2008), 454–467.
93. Ozinsky, A., The repertoire for pattern recognition of pathogens by the innate immune system is defined by cooperation between toll-like receptors. Proc. Nat. Acad. Sci. 97 (2000), 13766–13771.
94. Pappas, P.G., Kauffman, C.A., Andes, D., et al. Clinical practice guidelines for the management of candidiasis: 2009 update by the Infectious Diseases Society of America. Clin. Infect. Dis. 48 (2009), 503–535.
95. Pegu, A., Human lymphatic endothelial cells express multiple functional TLRs. J. Immunol. 180 (2008), 3399–3405.
96. Pelletier, M., Maggi, L., Micheletti, A., et al. Evidence for a cross-talk between human neutrophils and Th17 cells. Blood 115 (2010), 335–343.
97. Pérez de Diego, R., Sancho-Shimizu, V., Lorenzo, L., et al. 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.
98. Picard, C., Puel, A., Bonnet, M., et al. Pyogenic bacterial infections in humans with IRAK-4 deficiency. Science 299:5615 (2003), 2076–2079.
99. Picard, C., Casanova, J.L., Puel, A., Infectious diseases in patients with IRAK-4, MyD88, NEMO, or IκBα deficiency. Clin. Microbiol Rev. 24:3 (2011), 490–497.
100. Qasim, W., Gaspar, H.B., Thrasher, A.J., Progress and prospects: gene therapy for inherited immunodeficiencies. Gene Ther. 16 (2009), 1285–1291.
101. Rael, E.L., Marshall, R.T., McClain, J.J., The hyper-IgE syndromes: Lessons in nature, from bench to bedside. World Allergy Organ J. 5:7 (2012), 79–87.
102. Rahman, F.Z., Hayee, B., Chee, R., et al. Impaired macrophage function following bacterial stimulation in chronic granulomatous disease. Immunology 128:2 (2009), 253–259.
103. Rezaei, N., Farhoudi, A., Ramyar, A., et al. Congenital neutropenia and primary immunodeficiency disorders: a survey of 26 Iranian patients. J. Pedia. Hematol. Oncol. 27 (2005), 351–693.
104. Rezaei, N., Moin, M., Pourpak, Z., et al. The clinical, immunohematological, and molecular study of Iranian patients with severe congenital neutropenia. J. Clin. Immunol. 27 (2007), 525–533.
105. Rosen, F.S., Cooper, M.D., Wedgwood, R.J., The primary immunodeficiencies. N. Engl. J. Med. 333 (1995), 431–440.
106. Rosenzweig, S.D., Inflammatory manifestations in chronic granulomatous disease (CGD). J. Clin. Immunol. 28 (2008), 67–72.
107. Safdar, A., Hanna, H.A., Boktour, M., Impact of high-dose granulocyte transfusions in patients with cancer with candidemia: retrospective case control analysis of 491 episodes of Candida species bloodstream infections. Cancer 101 (2004), 2859–2865.
108. Sancho-Shimizu, V., de Diego, R.P., Jouanguy, E., et al. Inborn errors of anti-viral interferon immunity in humans. Curr. Opin. Virol. 2011:1 (2011), 487–496.
109. Schenten, D., Medzhitov, R., The control of adaptive immune responses by the innate immune system. Adv. Immunol. 109 (2011), 87–124.
110. Scully, C., el-Kabir, M., Samaranayake, L.P., Candida and oral candidosis: a review. Crit. Rev. Oral. Biol. Med 5 (1994), 125–157.
111. Segal, B.H., Leto, T.L., Gallin, J.I., Malech, H.L., Holland, S.M., Genetic, biochemical, and clinical features of chronic granulomatous disease. Med. (Baltim.). 79 (2000), 170–200.
112. Shimizu, T., Kida, Y., Kuwano, K., A dipalmitoylated lipoprotein from Mycoplasma pneumoniae activates NFkappa B through TLR1, TLR2, and TLR6. J. Immunol. 175 (2005), 4641–4646.
113. Tada, H., Saccharomyces cerevisiae- and Candidaalbicans-derived mannan induced production of tumor necrosis factor alpha by human monocytes in a CD14- and Toll-like receptor 4-dependent manner. Microbiol. Immunol. 46 (2002), 503–512.
114. Taraldsrud, E., Fevang, B., Aukrust, P., et al. Common variable immunodeficiency revisited: normal generation of naturally occurring dendritic cells that respond to Toll-like receptors 7 and 9. Clin. Exp. Immunol. 175:3 (2014), 439–448.
115. Uehara, A., Various human epithelial cells express functional Toll-like receptors, NOD1 and NOD2 to produce anti-microbial peptides, but not proinflammatory cytokines. Mol. Immunol. 44 (2007), 3100–3111.
116. van de Vosse, E., van Dissel, J.T., Ottenhoff, T.H., Genetic deficiencies of innate immune signalling in human infectious disease. Lancet Infect. Dis. 9 (2009), 688–698.
117. Viallard, J.F., Camou, F., André, M., et al. Altered dendritic cell distribution in patients with common variable immunodeficiency. Arthritis Res Ther. 7:5 (2005), R1052–R1055.
118. von Bernuth, H., Picard, C., Jin, Z., et al. Pyogenic bacterial infections in humans with MyD88 deficiency. Science 321:5889 (2008), 691–696.
119. Vulcano, M., Dusi, S., Lissandrini, D., et al. Toll receptor-mediated regulation of NADPH oxidase in human dendritic cells. J. Immunol. 173:9 (2004), 5749–5756.
120. Woellner, C., Gertz, E.M., Schaffer, A.A., et al. Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. J. Allergy Clin. Immunol. 5 (2010), 424–432.
121. Yu, J.E., Knight, A.K., Radigan, L., et al. Toll-like receptor 7 and 9 defects in common variable immunodeficiency. J. Allergy Clin. Immunol. 124:2 (2009), 349–356 (356.e1-3).
122. Zhang, Q., Davis, J.C., Lamborn, I.T., et al. Combined immunodeficiency associated with DOCK8 mutations. N. Engl. J. Med. 361:21 (2009), 2046–2055.
123. Zhang, S.Y., 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.
124. Zhang, S.Y., Jouanguy, E., Sancho-Shimizu, V., et al. Human Toll-like receptor-dependent induction of interferons in protective immunity to viruses. Immunol. Rev. 220 (2007), 225–236.
125. Zhang, S.Y., Jouanguy, E., Ugolini, S., et al. TLR3 deficiency in patients with herpes simplex encephalitis. Science 317:5844 (2007), 1522–1527.
126. Zhang, S.Y., Herman, M., Ciancanelli, M.J., TLR3 immunity to infection in mice and humans. Curr. Opin. Immunol. 25 (2013), 19–33.
127. Zonana, J., A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO). Am. J. Hum. Genet. 67 (2000), 1555–1562.