Uma nova classe de doenças: doenças autoinflamatórias
A new class of diseases: autoinflammatory diseases
Leonardo Oliveira Mendonça; Ricardo Krieger Azzolini; João Paulo de Assis; André Franco; Jorge Kalil; Fabio Morato Castro; Alessandra Pontillo; Myrthes Toledo de Barros
Resumo
As doenças autoinflamatórias sistêmicas são um grupo de doenças raras recentemente descritas, mas que vêm ganhando espaço no cenário clínico. Caracterizam-se por alterações da imunidade inata, portanto sem a presença de linfócito T autorreator ou autoanticorpo, e que respondem ao bloqueio de uma única citocina. Esta revisão tem como objetivo analisar a base imunofisiológica destas doenças e descrever brevemente cada uma delas com suas características clínicas mais importantes.
Palavras-chave
Abstract
Systemic autoinflammatory diseases are a group of rare diseases only recently described but rapidly growing in importance in the clinical setting. They are characterized by innate immunity impairment, i.e., absence of autoreactive T lymphocytes or autoantibodies, and respond to individual cytokine blockade. The objective of this review was to analyze the immunophysiological basis of these diseases and to briefly describe each of them along with their most relevant clinical characteristics.
Keywords
Referências
1. Doria A, Dayer JM, Punzi L. Autoinflammatory diseases: How to put the fire inside the body out? Autoimmun Rev. 2012;12(1):1‑4.
2. Galeazzi M, Gasbarrini G, Ghirardello A, Grandemange S, Hoffman HM, Manna R, et al. Autoinflammatory syndromes. Clin Exp Rheumatol. 2006;24(1 Suppl 40):S79‑85.
3. Quintero-Ronderos P, Montoya-Ortiz G. Epigenetics and Autoimmune Diseases. Autoimmune Diseases. 2012;2012:593720.
4. Masters SL, Simon A, Aksentijevich I, Kastner DL. Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease. Annu Rev Immunol. 2009;27:621‑68.
5. Stojanov S, Kastner DL. Familial autoinflammatory diseases: genetics, pathogenesis and treatment. Curr Opin Rheumatol. 2005;17(5):586-99.
6. Aksentijevich I, Centola M, Deng Z, Sood R, Balow JEJ, Wood G, et al. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell. 1997;90(4):797-807.
7. Padeh S. Periodic fever syndromes. Pediatr Clin North Am. 2005;52:577-609.
8. Alghamdi M. Familial Mediterranean fever, review of the literature. Clin Rheumatol. 2017;36(8):1707-13.
9. Ozen S, Hoffman HM, Frenkel J, Kastner D. Familial Mediterranean fever (FMF) and beyond: a new horizon. Fourth International Congress on the Systemic Autoinflammatory Diseases held in Bethesda, USA, 6-10 November 2005. Ann Rheum Dis. 2006;65:961-4.
10. Galeazzi M, Gasbarrini G, Ghirardello A, Grandemange S, Hoffman HM, Manna R, et al. Autoinflammatory syndromes. Clin Exp Rheumatol. 2006;24(1 Suppl 40):S79-85.
11. Kiss MH, Magalhães CS. Autoinflammatory diseases: mimics of autoimmunity or part of its spectrum? Case presentation. J Clin Immunol. 2008;28(Suppl 1):S84-9.
12. Medzhitov R, Janeway C Jr. Innate immunity. N Engl J Med. 2000;343:338-44.
13. Janeway CA, Medzhitov R. Innate immunity recognition. Annu Rev Immunol. 2002;20:197-216.
14. Areschoug T, Gordon S 2009. Scavenger receptors: role in innate immunity and microbial pathogenesis. Cell Microbiol. 2009;11(8):1160-9.
15. Bakir HY, Tomiyama C, Abo T 2011. Cytokine profile of murine malaria: stage-related production of inflammatory and anti-inflammatory cytokines. Biomed Res. 2011;32(3):203-8.
16. Agnello D, Lankford CSR, Bream J, Morinobu A, Gadina M, Shea JJO, Frucht DM. Cytokines and transcription factors that regulate T helper cell differentiation: new players and new insights. J Clin Immunol. 2003;23(3):147-61.
17. Kobayashi K, Inohara N, Hernandez LD, Galán JE, Núñez G, Janeway CA, et al. RICK/Rip2/CARDIAK mediates signalling for receptors of the innate and adaptive immune systems. Nature. 2002;416:194-9.
18. Carpenter S, Ricci EP, Mercier BC, et al. Post-transcriptional regulation of gene expression in innate immunity. Nat Rev Immunol. 2014;14:361-76.
19. Barrington R, Zhang M, Fischer M, Carroll MC. The role of complement in inflammation and adaptive immunity. Immunol Rev. 2001;180:5-15.
20. O’Neill LA, Sheedy FJ, McCoy CE. MicroRNAs: the fine-tuners of Toll-like receptor signalling. Nat Rev Immunol. 2011;11:163-75.
21. Paro S, Imler J-L, Meignin C. Sensing viral RNAs by Dicer/RIG-I like ATPases across species. Current Opinion in Immunology. 2015;32:106-13.
22. Germain RN. MHC-dependent antigen processing and peptide presentation: providing ligands for T lymphocyte activation. Cell. 1994;76:287-99.
23. Kim YK, Shin J-S, Nahm MH. NOD-Like Receptors in Infection, Immunity, and Diseases. Yonsei Medical Journal. 2016;57(1):5‑14.
24. Leonard CA, Schoborg RV, Borel N. Damage/Danger Associated Molecular Patterns (DAMPs) Modulate Chlamydia pecorum and C. trachomatis Serovar E Inclusion Development In Vitro. Kaltenboeck B, ed. PLoS ONE. 2015;10(8):e0134943.
25. Santoni G, Cardinali C, Morelli MB, Santoni M, Nabissi M, Amantini C. Danger- and pathogen-associated molecular patterns recognition by pattern-recognition receptors and ion channels of the transient receptor potential family triggers the inflammasome activation in immune cells and sensory neurons. Journal of Neuroinflammation. 2015;12:21.
26. Franchi L, Eigenbrod T, Muñoz-Planillo R, Nuñez G. The inflammasome: a caspase-1-activation platform that regulates immune responses and disease pathogenesis. Nat Immunol. 2009;10(3):241-7.
27. Wang H, Liu S, Wang Y, Chang B, Wang B. Nod-like receptor protein 3 inflammasome activation by Escherichia coli RNA induces transforming growth factor beta 1 secretion in hepatic stellate cells. Bosn J Basic Med Sci. 2016;16(2):126-31.
28. Franchi L, Kanneganti TD, Dubyak GR, Núñez G. Differential requirement of P2X7 receptor and intracellular K+ for caspase-1 activation induced by intracellular and extracellular bacteria. J Biol Chem. 2007;282(26):18810-8.
29. Kanneganti TD, Ozören N, Body-Malapel M, Amer A, Park JH, Franchi L, et al. Bacterial RNA and small antiviral compounds activate caspase-1 through cryopyrin/Nalp3. Nature. 2006;440(7081):233-6.
30. Cassel SL, Joly S, Sutterwala FS. The NLRP3 inflammasome: a sensor of immune danger signals. Semin Immunol. 2009;21(4):194-8.
31. Abbas AK, Lichtman AH. Cellular and Molecular Immunology. 6th ed. Saunders; 2003.
32. Stych B, Dobrovolny D. Familial cold auto‐inflammatory syndrome (FCAS)characterization of symptomatology and impact on patients’ lives. Curr Med Res Opin. 2008;24(6):1577-82.
33. Gattorno M, Federici S, Pelagatti MA, Caorsi R, Brisca G, Malattia C, Martini A. Diagnosis and management of autoinflammatory diseases in childhood J Clin Immunol. 2008;28 (Suppl 1):S73-S8.
34. Johnstone RF, Dolen WK, Hoffman HM. A large kindred with familial cold autoinflammatory syndrome. Ann Allergy Asthma Immunol. 2003;90(2):233-7.
35. Wanderer AA, Hoffman HM. The spectrum of acquired and familial cold induced urticaria/urticaria like syndromes. Immunol Allergy Clin North Am. 2004;24(2):259-86.
36. Watts RA, Nicholls A, Scott DG. The arthropathy of the Muckle Wells syndrome. Br J Rheumatol. 1994;33(12):1184-7.
37. Hoffman HM, Mueller JL, Broide DH, Wanderer AA, Kolodner RD. Mutation of a new gene encoding a putative pyrin like protein causes familial cold autoinflammatory syndrome and Muckle Wells syndrome. Nat Genet. 2001;29(3):301-5.
38. Hentgen V, Despert V, Leprêtre AC, Cuisset L, Chevrant-Breton J, Jégo P, et al. Intrafamilial variable phenotypic expression of a CIAS1 mutation: from Muckle Wells to chronic infantile neurological cutaneous and articular syndrome. J Rheumatol. 2005;32(4):747‑51.
39. Simon A, Asli B, Braun-Falco M, De Koning H, Fermand JP, Grattan C, et al. Schnitzler’ssyndrome: diagnosis, treatment, and follow-up. Allergy. 2013;68:562-8.
40. Lipsker D, Veran Y, Grunenberger F, Cribier B, Heid E, Grosshans E. The Schnitzler syndrome. Four new cases and review of the literature. Medicine (Baltimore). 2001;80:37-44.
41. Goupille P, Pizzuti P, Diot E, Jattiot F, Guilmot JL, Valat JP. Schnitzler’s syndrome (urticaria and macroglobulinemia) dramatically improved with corticosteroids. Clin Exp Rheumatol. 1995;13:95-8.
42. Herráez Albendea MM, López Rodríguez M, López de la Guía A, Canales Albendea MA. Síndrome de Schnitzler. Reumatol Clin. 2013;9:383-5.
43. Nashan D, Sunderkotter C, Bonsmann G, Luger T, Goerdt S. Chronic urticaria, arthralgia, raised erythrocyte sedimentation rate and IgG paraproteinaemia: a variant of Schnitzler’s syndrome? Br J Dermatol.1995;133:132-4.
44. Akimoto R, Moshida M, Matsuda R, Miyasaka K, Itoh M. Schnitzler’s syndrome with IgG gammopathy. J Dermatol. 2002;29:735-8.
45. de Koning HD, Bodar EJ, van der Meer JW, Simon A; Schnitzler Syndrome Study Group. Schintzler’s syndrome: beyond the case reports: review and follow-up of 94 patients with an emphasis on prognosis and treatment. Semin Arthritis Rheum. 2007;37:137‑48.
46. Ben-Zvi I, Livneh A. Chronic inflammation in FMF: markers, risk factors, outcomes and therapy. Nat Rev Rheumatol. 2011;7(2):105‑12.
47. Onen F. Familial Mediterranean fever. Rheumatol Int. 2006;26(6):489‑96.
48. Ozkurede VU, Franchi L. Immunology in clinic review series; focus on autoinflammatory diseases: role of inflammasomes in autoinflammatory syndromes. Clinical and Experimental Immunology. 2012;167(3):382-90.
49. Jesus AA, Oliveira JB, Hilário Maria MOE, Terreri RA, Fujihira E, Watase M, et al . Síndromes autoinflamatórias hereditárias na faixa etária pediátrica. J Pediatr (Rio J). 2010;86(5):353-66.
50. Tunca M, Akar S, Onen F, Ozdogan H, Kasapcopur O, Yalcinkaya F, et al. Familial Mediterranean fever (FMF) in Turkey: results of a nation wide multicenter study. Medicine (Baltimore). 2005;84(1):1‑11.
51. The International FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell. 1997;90(4):797-807.
52. Tricarico PM, Marcuzzi A, Pisciana E, Monasta L, Crovella S, Kleiner G. Mevalonate Kinase Deficiency and Neuroinflammation: Balance between Apoptosis and Pyroptosis. International Journal of Molecular Sciences. 2013;14(12):23274-88.
53. Henneman L, Schneiders MS, Turkenburg M, Waterham HR. Compromized geranylgeranylation of RhoA and Rac1 in mevalonate kinase deficiency. Journal of Inherited Metabolic Disease. 2010;33(5):625-32.
54. Haas D, Hoffmann GF. Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome. Orphanet Journal of Rare Diseases. 2006;1:13.
55. Hinson DD, Ross RM, Krisans S, Shaw JL, Kozich V, Rolland MO, et al. Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry. Am J Hum Genet. 1999;65(2):327-35.
56. Mulders-Manders CM, Simon A. Hyper-IgD syndrome/mevalonate kinase deficiency: what is new? Seminars in Immunopathology. 2015;37(4):371-6.
57. Tricarico PM, Crovella S, Celsi F. Mevalonate pathway blockade, mitochondrial dysfunction and autophagy: a possible link. Int J Mol Sci. 2015;16(7):16067‑84.
58. De Jesus AA, Goldbach-Mansky R. Monogenic Autoinflammatory diseases: concept and clinical manifestations. Clinical immunology (Orlando, Fla). 2013;147(3):155-74.
59. Dieudé P, Goossens M, Cornélis F, Michou L, Bardin T. The TNFRSF1A R92Q mutation is frequent in rheumatoid arthritis but shows no evidence for association or linkage with the disease. Annals of the Rheumatic Diseases. 2007;66(8):1113-5.
60. Arkwright PD, McDermott MF, Houten SM, Frenkel J, Waterham HR, Aganna E, et al. Hyper IgD syndrome (HIDS) associated with in vitro evidence of defective monocyte TNFRSF1A shedding and partial response to TNF receptor blockade with etanercept. Clin Exp Immunol. 2002;130(3):484-8.
61. Fujikawa K, Migita K, Shigemitsu Y, Umeda M, Nonaka F, Tamai M, et al. MEFV gene polymorphisms and TNFRSF1A mutation in patients with inflammatory myopathy with abundant macrophages. Clin Exp Immunol. 2014;178(2):224-8.
62. Pelagatti MA, Meini A, Caorsi R, Cattalini M, Federici S, Zulian F, et al. Long-Term Clinical Profile of Children With the Low-Penetrance R92Q Mutation of the TNFRSF1A Gene. Arthritis and Rheumatism. 2011;63(4):1141-50.
63. Greco E, Aita A, Galozzi P, et al. The novel S59P mutation in the TNFRSF1A gene identified in an adult onset TNF receptor associated periodic syndrome (TRAPS) constitutively activates NF- B pathway. Arthritis Research & Therapy. 2015;17(1):93.
64. Jesus AA, Osman M, Silva CA, Kim PW, Pham TH, Gadina M, et al. A novel mutation of IL1RN in the deficiency of Interleukin-1 receptor antagonist Syndrome: Description of two unrelated cases from Brazil. Arthritis Rheum. 2011;63(12):4007-17.
65. Lukens JR, Gurung P, Vogel P, Johnson GR, Carter RA, McGoldrick DJ, et al. Dietary modulation of the microbiome affects autoinflammatory disease. Nature. 2014;516(7530):246-9.
66. Stern SM, Ferguson PJ. Autoinflammatory Bone Diseases. Rheumatic diseases clinics of North America. 2013;39(4):735‑49.
67. Wang D, Höing S, Patterson HC, Ahmad UM, Rathinam VA, Rajewsky K, et al. Inflammation in Mice Ectopically Expressing Human Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne (PAPA) Syndrome-associated PSTPIP1 A230T Mutant Proteins. J Biol Chem. 2013;288(7):4594-601.
68. Yu JW, Fernandes-Alnemri T, Datta P, Wu J, Juliana C, Solorzano L, et al. Pyrin activates the ASC pyroptosome in response to engagement by autoinflammatory PSTPIP1 mutants. Mol Cell. 2007;28(2):214-27.
69. Grosse J, Chitu V, Marquardt A, Hanke P, Schmittwolf C, Zeitlmann L, et al. Mutation of mouse Mayp/Pstpip2 causes a macrophage autoinflammatory disease. Blood. 2006;107(8):3350-8.
70. Wouters CH, Maes A, Foley KP, Bertin J, Rose CD. Blau Syndrome, the prototypic auto-inflammatory granulomatous disease. Pediatr Rheumatol Online J. 2014;12:33.
71. Dugan J, Griffiths E, Snow P, Rosenzweig H, Lee E, Brown B, et al. A Blau syndrome-associated Nod2 mutation alters expression of full length NOD2 and limits responses to muramyl dipeptide in knock-in mice. J Immunol. 2015;194(1):349-57.
72. Parkhouse R, Boyle JP, Monie TP. Blau syndrome polymorphisms in NOD2 identify nucleotide hydrolysis and helical domain 1 as signalling regulators. Febs Letters. 2014;588(18):3382-9.
73. Martin TM, Zhang Z, Kurz P, Rosé CD, Chen H, Lu H, et al. The NOD2 defect in Blau syndrome does not result in excess interleukin 1 activity. Arthritis Rheum. 2009;60(2):611-8.
74. Caso F, Galozzi P, Costa L, Sfriso P, Cantarini L, Punzi L. Autoinflammatory granulomatous diseases: from Blau syndrome and early-onset sarcoidosis to NOD2-mediated disease and Crohn’s disease. RMD Open. 2015;1(1):e000097.
75. Franchi L, Warner N, Viani K, Nuñez G. Function of nod-like receptors in microbial recognition and host defense. Immunological reviews. 2009;227(1):106-28.
76. Sutterwala FS, Flavell RA. NLRC4/IPAF: a CARD carrying member of the NLR family. Clinical immunology (Orlando, Fla). 2009;130(1):2-6.
77. Catalytic Receptors. Br J Pharmacol. 2011;164(Suppl 1):S189‑S212.
78. Sjakste T, Paramonova N, Wu LS, Zemeckiene Z, Sitkauskiene B, Sakalauskas R, et al. PSMA6 (rs2277460, rs1048990), PSMC6 (rs2295826, rs2295827) and PSMA3 (rs2348071) genetic diversity in Latvians, Lithuanians and Taiwanese. Meta Gene. 2014;2:283‑98.
79. Kitamura A, Maekawa Y, Uehara H, Izumi K, Kawachi I, Nishizawa M, et al. A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans. J Clin Invest. 2011;121(10):4150-60.
80. Gomes AV. Genetics of Proteasome Diseases. Scientifica. 2013;2013:637629.
81. Belcastro E, Franzini M, Cianchetti S, Lorenzini E, Masotti S, Fierabracci V, et al. Monocytes/macrophages activation contributes to b-gamma-glutamyltransferase accumulation inside atherosclerotic plaques. J Trans Med. 2015;13:325.
82. Loyo E, Jara LJ, López PD, Puig AC. Autoimmunity in connection with a metal implant: a case of autoimmune/autoinflammatory syndrome induced by adjuvants. Auto-Immunity Highlights. 2013;4(1):33-8.
83. Chae JJ, Park YH, Park C, Hwang IY, Hoffmann P, Kehrl JH, et al. Connecting Two Pathways through Ca2+ Signaling: NLRP3 Inflammasome Activation Induced by a Hypermorphic PLCG2 Mutation. Arthritis Rheumatol. 2015;67(2):563-7.
84. Zhou Q, Lee GS, Brady J, Datta S, Katan M, Sheikh A, et al. A Hypermorphic Missense Mutation in PLCG2, Encoding Phospholipase C 2, Causes a Dominantly Inherited Autoinflammatory Disease with Immunodeficiency. Am J Hum Genet. 2012;91(4):713-20.
85. Ombrello MJ, Remmers EF, Sun G, Freeman AF, Datta S, Torabi-Parizi P, et al. Cold Urticaria, Immunodeficiency, and Autoimmunity Related to PLCG2 Deletions. N Engl J Med. 2012 Jan 26;366(4):330-8.
86. Cliffe ST, Kramer JM, Hussain K, Robben JH, de Jong EK, de Brouwer AP, et al. SLC29A3 gene is mutated in pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome and interacts with the insulin signaling pathway. Hum Mol Genet. 2009;18(12):2257-65.
87. Morgan NV, Morris MR, Cangul H, Gleeson D, Straatman-Iwanowska A, Davies N, et al. Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease. PLoS Genet. 2010;6(2):e1000833.
88. Spiegel R, Cliffe ST, Buckley MF, Crow YJ, Urquhart J, Horovitz Y, et al. Expanding the clinical spectrum of SLC29A3 gene defects. Eur J Med Genet. 2010;53(5):309-13.
89. Tadashi A, Noriko O, Koji Y, Nobuaki K, Hideaki K, Shoichiro T, et al. T-cell lines from 2 patients with adenosine deaminase (ADA) deficiency showed the restoration of ADA activity resulted from the reversion of an inherited mutation. Blood May. 2001;97(9):2896‑29.
Submetido em:
09/06/2017
Aceito em:
03/07/2017
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