Inborn errors in immunity: Unique natural models to dissect oral immunity

Journal of Dental Research

Volumn 94, Issue 6, 2015, Pages 753-758

  Moutsopoulos, N M ^a   Lionakis, M S ^b   Hajishengallis, G ^c  

^a NATIONAL INSTITUTE OF DENTAL AND CRANIOFACIAL RESEARCH   (United States)

^b NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

^c UNIVERSITY OF PENNSYLVANIA SCHOOL OF DENTAL MEDICINE   (United States)

Author keywords

human oral immunity; IL 17; monogenic immune defects; oral candidiasis susceptibility; periodontitis susceptibility; Th17

Indexed keywords

INTERLEUKIN 17;

DISEASE PREDISPOSITION; GENETIC DISORDER; GENETICS; HUMAN; IMMUNOLOGY; IMMUNOSURVEILLANCE; MOUTH DISEASE; MOUTH MUCOSA; MUCOSAL IMMUNITY;

DISEASE SUSCEPTIBILITY; GENETIC DISEASES, INBORN; HUMANS; IMMUNITY, MUCOSAL; IMMUNOLOGIC SURVEILLANCE; INTERLEUKIN-17; MOUTH DISEASES; MOUTH MUCOSA;

EID: 84930463570     PISSN: 00220345     EISSN: 15440591     Source Type: Journal    
DOI: 10.1177/0022034515583533     Document Type: Review

References (46)

1. Abdollahpour H, Appaswamy G, Kotlarz D, Diestelhorst J, Beier R, Schaffer AA, Gertz EM, Schambach A, Kreipe HH, Pfeifer D, et al. The phenotype of human STK4 deficiency. Blood. 2012 ; 119 (15). 3450-3457
2. Alaluusua S, Kivitie-Kallio S, Wolf J, Haavio ML, Asikainen S, Pirinen S. Periodontal findings in Cohen syndrome with chronic neutropenia. J Periodontol. 1997 ; 68 (5). 473-478
3. Allam JP, Duan Y, Heinemann F, Winter J, Gotz W, Deschner J, Wenghoefer M, Bieber T, Jepsen S, Novak N. IL-23-producing CD68(+) macrophage-like cells predominate within an IL-17-polarized infiltrate in chronic periodontitis lesions. J Clin Periodontol. 2011 ; 38 (10). 879-886
4. Arkwright PD, Abinun M, Cant AJ. Autoimmunity in human primary immunodeficiency diseases. Blood. 2002 ; 99 (8). 2694-2702
5. Atkinson JC MN, Pillemer SR, Imanguili MM., Challacombe S Burket's oral medicine. 2015. Immunologic diseases. In: M G, editor. Burket's oral medicine. 12th ed.Shelton (CT): People's Medical Publishing House. p. 489-520. Shelton (CT): People's Medical Publishing House ; 2015: 489-520.
6. Betts K, Abusleme L, Freeman AF, Sarmadi M, Fahle G, Pittaluga S, Cuellar-Rodriguez J, Hickstein D, Holland SM, Su H, et al. A 17-year old patient with DOCK8 deficiency, severe oral HSV-1 and aggressive periodontitis: a case of virally induced periodontitis?. J Clin Virol. 2015 ; 63: 46-50
7. Binder V, Albert MH, Kabus M, Bertone M, Meindl A, Belohradsky BH. The genotype of the original Wiskott phenotype. N Engl J Med. 2006 ; 355 (17). 1790-1793
8. Boisson B, Wang C, Pedergnana V, Wu L, Cypowyj S, Rybojad M, Belkadi A, Picard C, Abel L, Fieschi C, et al. An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis. Immunity. 2013 ; 39 (4). 676-686
9. Buckley RH. Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution. Annu Rev Immunol. 2004 ; 22: 625-655
10. Casanova JL, Abel L. Inborn errors of immunity to infection: the rule rather than the exception. J Exp Med. 2005 ; 202 (2). 197-201
11. Casanova JL, Abel L. Primary immunodeficiencies: a field in its infancy. Science. 2007 ; 317 (5838). 617-619
12. Casanova JL, Conley ME, Seligman SJ, Abel L, Notarangelo LD. Guidelines for genetic studies in single patients: lessons from primary immunodeficiencies. J Exp Med. 2014 ; 211 (11). 2137-2149
13. Cipriani NA, Blair E, Taxy JB. WHIM syndrome and oral squamous cell carcinoma. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2010 ; 109 (1). 105-108
14. Delcourt-Debruyne EM, Boutigny HR, Hildebrand HF. Features of severe periodontal disease in a teenager with Chediak-Higashi syndrome. J Periodontol. 2000 ; 71 (5). 816-824
15. Doffinger R, Smahi A, Bessia C, Geissmann F, Feinberg J, Durandy A, Bodemer C, Kenwrick S, Dupuis-Girod S, Blanche S, et al. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat Genet. 2001 ; 27 (3). 277-285
16. Fischer A. Human primary immunodeficiency diseases. Immunity. 2007 ; 27 (6). 835-845
17. Freeman AF, Holland SM. Clinical manifestations, etiology, and pathogenesis of the hyper-IgE syndromes. Pediatr Res. 65(5 Pt 2):. 2009 ;: 32R - 37R
18. Gaffen SL, Jain R, Garg AV, Cua DJ. The IL-23-IL-17 immune axis: from mechanisms to therapeutic testing. Nat Rev Immunol. 2014 ; 14 (9). 585-600
19. Glocker EO, Hennigs A, Nabavi M, Schaffer AA, Woellner C, Salzer U, Pfeifer D, Veelken H, Warnatz K, Tahami F, et al. A homozygous CARD9 mutation in a family with susceptibility to fungal infections. N Engl J Med. 2009a ; 361 (18). 1727-1735
20. Glocker EO, Kotlarz D, Boztug K, Gertz EM, Schaffer AA, Noyan F, Perro M, Diestelhorst J, Allroth A, Murugan D, et al. Inflammatory bowel disease and mutations affecting the interleukin-10 receptor. N Engl J Med. 2009b ; 361 (21). 2033-2045
21. Guirat-Dhouib N, Baccar Y, Mustapha IB, Ouederni M, Chouaibi S, El Fekih N, Barbouche MR, Fezaa B, Kouki R, Hmida S, et al. Oral HPV infection and MHC class II deficiency (a study of two cases with atypical outcome). Clin Mol Allergy. 2012 ; 10 (1). 6
22. Hajishengallis E, Hajishengallis G. Neutrophil homeostasis and periodontal health in children and adults. J Dent Res. 2014 ; 93 (3). 231-237
23. Hajishengallis G, Lamont RJ, Graves DT. The enduring importance of animal models in understanding periodontal disease. Virulence. 2015 ; 6 (3). 229-235
24. Hambleton S, Salem S, Bustamante J, Bigley V, Boisson-Dupuis S, Azevedo J, Fortin A, Haniffa M, Ceron-Gutierrez L, Bacon CM, et al. IRF8 mutations and human dendritic-cell immunodeficiency. N Engl J Med. 2011 ; 365 (2). 127-138
25. Hart TC, Atkinson JC. Mendelian forms of periodontitis. Periodontol 2000. 2007 ; 45: 95-112
26. Kuehn HS, Ouyang W, Lo B, Deenick EK, Niemela JE, Avery DT, Schickel JN, Tran DQ, Stoddard J, Zhang Y, et al. Immune dysregulation in human subjects with heterozygous germline mutations in CTLA4. Science. 2014 ; 345 (6204). 1623-1627
27. Langley RG, Elewski BE, Lebwohl M, Reich K, Griffiths CE, Papp K, Puig L, Nakagawa H, Spelman L, Sigurgeirsson B, et al. Secukinumab in plaque psoriasis - results of two phase 3 trials. N Engl J Med. 2014 ; 371 (4). 326-338
28. Lionakis MS, Netea MG, Holland SM. Mendelian genetics of human susceptibility to fungal infection. Cold Spring Harb Perspect Med. 2014 ; 4 (6). a019638
29. Liu L, Okada S, Kong XF, Kreins AY, Cypowyj S, Abhyankar A, Toubiana J, Itan Y, Audry M, Nitschke P, et al. Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis. J Exp Med. 2011 ; 208 (8). 1635-1648
30. Marciano BE, Rosenzweig SD, Kleiner DE, Anderson VL, Darnell DN, Anaya-O'Brien S, Hilligoss DM, Malech HL, Gallin JI, Holland SM. Gastrointestinal involvement in chronic granulomatous disease. Pediatrics. 2004 ; 114 (2). 462-468
31. Meloni A, Willcox N, Meager A, Atzeni M, Wolff AS, Husebye ES, Furcas M, Rosatelli MC, Cao A, Congia M. Autoimmune polyendocrine syndrome type 1: an extensive longitudinal study in Sardinian patients. J Clin Endocrinol Metab. 2012 ; 97 (4). 1114-1124
32. Milner JD, Holland SM. The cup runneth over: lessons from the ever-expanding pool of primary immunodeficiency diseases. Nat Rev Immunol. 2013 ; 13 (9). 635-648
33. Moran CJ, Walters TD, Guo CH, Kugathasan S, Klein C, Turner D, Wolters VM, Bandsma RH, Mouzaki M, Zachos M, et al. IL-10R polymorphisms are associated with very-early-onset ulcerative colitis. Inflamm Bowel Dis. 2013 ; 19 (1). 115-123
34. Moutsopoulos NM, Chalmers NI, Barb JJ, Abusleme L, Greenwell-Wild T, Dutzan N, Paster BJ, Munson PJ, Fine DH, Uzel G, et al. Subgingival microbial communities in leukocyte adhesion deficiency and their relationship with local immunopathology. PLoS Pathog. 2015 ; 11 (3). e1004698
35. Moutsopoulos NM, Kling HM, Angelov N, Jin W, Palmer RJ, Nares S, Osorio M, Wahl SM. P. gingivalis promotes Th17 inducing pathways in chronic periodontitis. J Autoimmune. 2012 ; 39 (4). 294-303
36. Moutsopoulos NM, Konkel J, Sarmadi M, Eskan MA, Wild T, Dutzan N, Abusleme L, Zenobia C, Hosur KB, Abe T, et al. Defective neutrophil recruitment in leukocyte adhesion deficiency type I disease causes local IL-17-driven inflammatory bone loss. Sci Transl Med. 2014 ; 6 ( 229 ):
37. Notarangelo LD. Primary immunodeficiencies. J Allergy Clin Immunol. 2010 ; 125 (2). S182 - S194
38. Peltonen L, Perola M, Naukkarinen J, Palotie A. Lessons from studying monogenic disease for common disease. Hum Mol Genet. 15 Spec No. 2006 ; 1: R67-74
39. Puel A, Cypowyj S, Bustamante J, Wright JF, Liu L, Lim HK, Migaud M, Israel L, Chrabieh M, Audry M, et al. Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. Science. 2011 ; 332 (6025). 65-68
40. Ryu OH, Choi SJ, Firatli E, Choi SW, Hart PS, Shen RF, Wang G, Wu WW, Hart TC. Proteolysis of macrophage inflammatory protein-1alpha isoforms LD78beta and LD78alpha by neutrophil-derived serine proteases. J Biol Chem. 2005 ; 280 (17). 17415-17421
41. Sorensen OE, Clemmensen SN, Dahl SL, Ostergaard O, Heegaard NH, Glenthoj A, Nielsen FC, Borregaard N. Papillon-Lefevre syndrome patient reveals species-dependent requirements for neutrophil defenses. J Clin Invest. 2014 ; 124 (10). 4539-4548
42. Stray-Pedersen A, Jouanguy E, Crequer A, Bertuch AA, Brown BS, Jhangiani SN, Muzny DM, Gambin T, Sorte H, Sasa G, et al. Compound heterozygous CORO1A mutations in siblings with a mucocutaneous-immunodeficiency syndrome of epidermodysplasia verruciformis-HPV, molluscum contagiosum and granulomatous tuberculoid leprosy. J Clin Immunol. 2014 ; 34 (7). 871-890
43. Van Dyke TE, Taubman MA, Ebersole JL, Haffajee AD, Socransky SS, Smith DJ, Genco RJ. The Papillon-Lefevre syndrome: neutrophil dysfunction with severe periodontal disease. Clin Immunol Immunopathol. 1984 ; 31 (3). 419-429
44. von Bernuth H, Picard C, Jin Z, Pankla R, Xiao H, Ku CL, Chrabieh M, Mustapha IB, Ghandil P, Camcioglu Y, et al. Pyogenic bacterial infections in humans with MyD88 deficiency. Science. 2008 ; 321 (5889). 691-696
45. Ye Y, Carlsson G, Wondimu B, Fahlen A, Karlsson-Sjoberg J, Andersson M, Engstrand L, Yucel-Lindberg T, Modeer T, Putsep K. Mutations in the ELANE gene are associated with development of periodontitis in patients with severe congenital neutropenia. J Clin Immunol. 2011 ; 31 (6). 936-945
46. Zhang Q, Davis JC, Lamborn IT, Freeman AF, Jing H, Favreau AJ, Matthews HF, Davis J, Turner ML, Uzel G, et al. Combined immunodeficiency associated with DOCK8 mutations. N Engl J Med. 2009 ; 361 (21). 2046-2055