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Mukhin N.A.

GBOU VPO «Pervyj Moskovskij gosudarstvennyj meditsinskij universitet im. I.M. Sechenova», Moskva

Bogdanova M.V.

Pervyĭ MGMU im. I.M. Sechenova

Rameev V.V.

Kafedra terapii i profzabolevaniĭ MPF, Pervyĭ MGMU im. I.M. Sechenova Minzdrava Rossii

Kozlovskaia L.V.

Pervyĭ Moskovskiĭ gosudarstvennyĭ meditsinskiĭ universitet im. I.M. Sechenova

Autoinflammatory diseases and kidney involvement

Authors:

Mukhin N.A., Bogdanova M.V., Rameev V.V., Kozlovskaia L.V.

More about the authors

Journal: Therapeutic Archive. 2017;89(6): 4‑20

DOI: 10.17116/terarkh20178964-20

Read: 8329 times

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Table of contents

AUTOINFLAMMATORY DISEASES AND KIDNEY INVOLVEMENT
AUTOINFLAMMATORY DISEASES AND KIDNEY INVOLVEMENT

To cite this article:

Mukhin NA, Bogdanova MV, Rameev VV, Kozlovskaia LV. Autoinflammatory diseases and kidney involvement. Therapeutic Archive. 2017;89(6):4‑20. (In Russ.)
https://doi.org/10.17116/terarkh20178964-20

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Abstract:

Autoinflammatory disease (AID) is a new concept formulated from the results of studying the pathogenesis of familial periodic fevers, a heterogeneous group of genetically determined diseases characterized by causelessly recurrent exacerbations of the inflammatory process due to genetically determined disorders of innate immunity and accompanied by uncontrolled hypersecretion of interleukin-1 (IL-1). These mechanisms were a basic model for understanding a wide range of rheumatologic and other inflammatory diseases of the internal organs. The late diagnosis of AIDs and their ineffective treatment increase the risk for the development and progression of secondary AA amyloidosis. Elaboration of both clinical and effective laboratory criteria for diagnosing autoinflammation is of great importance for determining the tactics of anti-inflammatory therapy and prevention of complications.

Keywords:

autoinflammation
periodic disease
cryopyrinopathies
Muckle-Wells syndrome
neonatal-onset multisystem inflammatory disease (NOMID)
tumor necrosis factor receptor associated periodic syndrome (TRAPS)
inflammation activity
AA amyloidosis
serum amyloid A (SAA)
calgranulin C (S100A12)

Authors:

Mukhin N.A.

GBOU VPO «Pervyj Moskovskij gosudarstvennyj meditsinskij universitet im. I.M. Sechenova», Moskva

Bogdanova M.V.

Pervyĭ MGMU im. I.M. Sechenova

Rameev V.V.

Kafedra terapii i profzabolevaniĭ MPF, Pervyĭ MGMU im. I.M. Sechenova Minzdrava Rossii

Kozlovskaia L.V.

Pervyĭ Moskovskiĭ gosudarstvennyĭ meditsinskiĭ universitet im. I.M. Sechenova

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References:

  1. Mechnikov II. Izbrannye biologicheskie proizvedenija. Izdatel’stvo Akademii nauk SSSR. Moskva; 1950. (In Russ.)
  2. Serov VV, Paukov VS. Vospalenie. Rukovodstvo dlja vrachej. Moskva: Medicina; 1995. (In Russ.)
  3. French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet. 1997;17(1):25-31. doi:10.1038/ng0997-25.
  4. McDermott MF, Aksentijevich I, Galon J, et al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell. 1999;97(1):133-144. doi: http://dx.doi.org/10.1016/S0092-8674(00)80721-7
  5. Ombrello MJ, Kastner DL. Autoinflammation in 2010: expanding clinical spectrum and broadening therapeutic horizons. Nat Rev Rheumatol. 2011;7(2):82-84. doi:10.1038/nrrheum.2010.229
  6. Mayadas TN, Cullere X, Lowell CA. The multifaceted functions of neutrophils. Annu Rev Pathol. 2014;9:181-218. doi:10.1146/annurev-pathol-020712-164023
  7. Mantovani A, Cassatella MA, Costantini C, Jaillon S. Neutrophils in the activation and regulation of innate and adaptive immunity. Nat Rev Immunol. 2011;11(8):519-531. doi:10.1038/nri3024
  8. Kolaczkowska E, Kubes P. Neutrophil recruitment and function in health and inflammation. Nat Rev Immunol. 2013;13(3):159-175. doi:10.1038/nri3399
  9. Amulic B, Cazalet C, Hayes GL, Metzler KD, Zychlinsky A. Neutrophil function: from mechanisms to disease. Annu Rev Immunol. 2012;30:459-489. doi:10.1146/annurev-immunol-020711-074942
  10. Parker LC, Whyte MKB, Dower SK, Sabroe I. The expression and roles of Toll-like receptors in the biology of the human neutrophil. J Leukoc Biol. 2005;77(6):886-892. doi:10.1189/jlb.1104636
  11. Rabiet M-J, Huet E, Boulay F. The N-formyl peptide receptors and the anaphylatoxin C5a receptors: an overview. Biochimie. 2007;89(9):1089-1106. doi:10.1016/j.biochi.2007.02.015
  12. Nordenfelt P, Tapper H. Phagosome dynamics during phagocytosis by neutrophils. J Leukoc Biol. 2011;90(2):271-284. doi:10.1189/jlb.0810457
  13. Chan JK, Roth J, Oppenheim JJ, et al. Alarmins: awaiting a clinical response. J Clin Invest. 2012;122(8):2711-2719. doi:10.1172/JCI62423
  14. Brinkmann V, Reichard U, Goosmann C, et al. Neutrophil extracellular traps kill bacteria. Science. 2004;303(5663):1532-1535. doi:10.1126/science.1092385
  15. Papayannopoulos V, Zychlinsky A. NETs: a new strategy for using old weapons. Trends Immunol. 2009;30(11):513-521. doi:10.1016/j.it.2009.07.011
  16. Fuchs TA, Brill A, Duerschmied D, et al. Extracellular DNA traps promote thrombosis. Proc Natl Acad Sci USA. 2010;107(36):15880-15885. doi:10.1073/pnas.1005743107
  17. Ohali M, Shalev H, Schlesinger M, et al. Hypocomplementemic autosomal recessive hemolytic uremic syndrome with decreased factor H. Pediatr Nephrol Berl Ger. 1998;12(8):619-624. doi:10.1007/s004670050515
  18. Edwards AO, Ritter R, Abel KJ, Manning A, Panhuysen C, Farrer LA. Complement factor H polymorphism and age-related macular degeneration. Science. 2005;308(5720):421-424. doi:10.1126/science.1110189
  19. Dwivedi N, Upadhyay J, Neeli I, et al. Felty’s syndrome autoantibodies bind to deiminated histones and neutrophil extracellular chromatin traps. Arthritis Rheum. 2012;64(4):982-992. doi:10.1002/art.33432
  20. Lamkanfi M, Vande Walle L, Kanneganti T-D. Deregulated inflammasome signaling in disease. Immunol Rev. 2011;243(1):163-173. doi:10.1111/j.1600-065X.2011.01042.x
  21. Soehnlein O, Weber C, Lindbom L. Neutrophil granule proteins tune monocytic cell function. Trends Immunol. 2009;30(11): 538-546. doi:10.1016/j.it.2009.06.006
  22. Schultze JL, Schmieder A, Goerdt S. Macrophage activation in human diseases. Semin Immunol. 2015;27(4):249-256. doi:10.1016/j.smim.2015.07.003
  23. Broderick L, Nardo DD, Franklin BS, Hoffman HM, Latz E. The Inflammasomes and Autoinflammatory Syndromes. Annu Rev Pathol Mech Dis. 2015;10(1):395-424. doi:10.1146/annurev-pathol-012414-040431
  24. Sidiropoulos PI, Goulielmos G, Voloudakis GK, Petraki E, Boumpas DT. Inflammasomes and rheumatic diseases: evolving concepts. Ann Rheum Dis. 2008;67(10):1382-1389. doi:10.1136/ard.2007.078014
  25. Schmitz J, Owyang A, Oldham E, et al. IL-33, an interleukin-1-like cytokine that signals via the IL-1 receptor-related protein ST2 and induces T helper type 2-associated cytokines. Immunity. 2005;23(5):479-490. doi:10.1016/j.immuni.2005.09.015
  26. Thornberry NA, Bull HG, Calaycay JR. et al. A novel heterodimeric cysteine protease is required for interleukin-1 beta processing in monocytes. Nature. 1992;356(6372):768-774. doi:10.1038/356768a0
  27. Luksch H, Winkler S, Heymann MC. et al. Current knowledge on procaspase-1 variants with reduced or abrogated enzymatic activity in autoinflammatory disease. Curr Rheumatol Rep. 2015;17(7):45. doi:10.1007/s11926-015-0520-5
  28. Mariathasan S, Weiss DS, Newton K. et al. Cryopyrin activates the inflammasome in response to toxins and ATP. Nature. 2006;440(7081):228-232. doi:10.1038/nature04515
  29. Sutterwala FS, Ogura Y, Szczepanik M. et al. Critical role for NALP3/CIAS1/Cryopyrin in innate and adaptive immunity through its regulation of caspase-1. Immunity. 2006;24(3):317-327. doi:10.1016/j.immuni.2006.02.004
  30. Masters SL, Simon A, Aksentijevich I, Kastner DL. Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease. Annu Rev Immunol. 2009;27:621-668. doi:10.1146/annurev.immunol.25.022106.141627
  31. Feldmann J, Prieur A-M, Quartier P. et al. Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am J Hum Genet. 2002;71(1):198-203. doi: http://dx.doi.org/10.1086/341357
  32. Aksentijevich I, Nowak M, Mallah M. et al. De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseases. Arthritis Rheum. 2002; 46(12):3340-3348. doi:10.1002/art.10688
  33. 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):301-305. doi:10.1038/ng756
  34. Aksentijevich I, D Putnam C, Remmers EF. et al. The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model. Arthritis Rheum. 2007;56(4):1273-1285. doi:10.1002/art.22491
  35. Neven B, Callebaut I, Prieur A-M. et al. Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU. Blood. 2004;103(7):2809-2815. doi:10.1182/blood-2003-07-2531
  36. Hoffman HM, Wanderer AA, Broide DH. Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever. J Allergy Clin Immunol. 2001; 108(4):615-620. doi:10.1067/mai.2001.118790
  37. 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):1577-1582. doi:10.1185/03007990802081543
  38. Dodé C, Le Dû N, Cuisset L. et al. New mutations of CIAS1 that are responsible for Muckle-Wells syndrome and familial cold urticaria: a novel mutation underlies both syndromes. Am J Hum Genet. 2002;70(6):1498-1506. doi: http://dx.doi.org/10.1086/340786
  39. Hawkins PN, Lachmann HJ, Aganna E, McDermott MF. Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra. Arthritis Rheum. 2004;50(2):607-612. doi:10.1002/art.20033
  40. Aganna E, Martinon F, Hawkins PN. et al. Association of mutations in the NALP3/CIAS1/PYPAF1 gene with a broad phenotype including recurrent fever, cold sensitivity, sensorineural deafness, and AA amyloidosis. Arthritis Rheum. 2002;46(9):2445-2452. doi:10.1002/art.10509
  41. Goldbach-Mansky R, Dailey NJ, Canna SW. et al. Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition. N Engl J Med. 2006;355(6):581-592. doi:10.1056/NEJMoa055137
  42. Sibley CH, Plass N, Snow J. et al. Sustained response and prevention of damage progression in patients with neonatal-onset multisystem inflammatory disease treated with anakinra: a cohort study to determine three- and five-year outcomes. Arthritis Rheum. 2012;64(7):2375-2386. doi:10.1002/art.34409
  43. Hill SC, Namde M, Dwyer A, Poznanski A, Canna S, Goldbach-Mansky R. Arthropathy of neonatal onset multisystem inflammatory disease (NOMID/CINCA). Pediatr Radiol. 2007;37(2):145-152. doi:10.1007/s00247-006-0358-0
  44. Siegal S. Benign paroxysmal peritonitis. Gastroenterology. 1949; 12(2):234-247.
  45. Виноградова О.М. Периодическая болезнь. Москва; Медицина. 1973.
  46. Рамеев В.В., Симонян А.Х., Саркисова И.А., Рамеева А.С., Козловская Л.В. Амилоидоз и наследственные периодические аутовоспалительные заболевания. Клиницист. 2008; (2):6-15.
  47. Touitou I, Lesage S, McDermott M. et al. Infevers: an evolving mutation database for auto-inflammatory syndromes. Hum Mutat. 2004;24(3):194-198. doi:10.1002/humu.20080
  48. Milhavet F, Cuisset L, Hoffman HM et al. The infevers autoinflammatory mutation online registry: update with new genes and functions. Hum Mutat. 2008;29(6):803-808. doi:10.1002/humu.20720
  49. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. The International FMF Consortium. Cell. 1997;90(4):797-807. doi: http://dx.doi.org/10.1016/S0092-8674(00)80539-5
  50. Centola M, Aksentijevich I, Kastner DL. The hereditary periodic fever syndromes: molecular analysis of a new family of inflammatory diseases. Hum Mol Genet. 1998;7(10):1581-1588. doi: https://doi.org/10.1093/hmg/7.10.1581
  51. Mansfield E, Chae JJ, Komarow HD et al. The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments. Blood. 2001;98(3):851-859. doi: https://doi.org/10.1182/blood.V98.3.851
  52. Goldfinger SE. Colchicine for familial Mediterranean fever. N Engl J Med. 1972;287(25):1302. doi:10.1056/NEJM197212212872514
  53. Chae JJ, Wood G, Richard K et al. The familial Mediterranean fever protein, pyrin, is cleaved by caspase-1 and activates NF-kappaB through its N-terminal fragment. Blood. 2008;112(5):1794-1803. doi:10.1182/blood-2008-01-134932
  54. Yu J-W, Wu J, Zhang Z et al. Cryopyrin and pyrin activate caspase-1, but not NF-kappaB, via ASC oligomerization. Cell Death Differ. 2006;13(2):236-249. doi:10.1038/sj.cdd.4401734
  55. Belkhir R, Moulonguet-Doleris L, Hachulla E, Prinseau J, Baglin A, Hanslik T. Treatment of familial Mediterranean fever with anakinra. Ann Intern Med. 2007;146(11):825-826. doi: 10.7326/0003-4819-146-11-200706050-00023
  56. Lindor NM, Arsenault TM, Solomon H, Seidman CE, McEvoy MT. A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome. Mayo Clin Proc. 1997;72(7):611-615. doi:10.1016/S0025-6196(11)63565-9
  57. Wise CA, Gillum JD, Seidman CE. et al. Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder. Hum Mol Genet. 2002;11(8):961-969. doi: https://doi.org/10.1093/hmg/11.8.961
  58. Medzhitov R, Janeway CA. Innate immunity: the virtues of a nonclonal system of recognition. Cell. 1997;91(3):295-298. doi: http://dx.doi.org/10.1016/S0092-8674(00)80412-2
  59. Smith EJ, Allantaz F, Bennett L. et al. Clinical, Molecular, and Genetic Characteristics of PAPA Syndrome: A Review. Curr Genomics. 2010;11(7):519-527. doi:10.2174/138920210793175921
  60. Demidowich AP, Freeman AF, Kuhns DB. et al. Brief report: genotype, phenotype, and clinical course in five patients with PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne). Arthritis Rheum. 2012;64(6):2022-2027. doi:10.1002/art.34332
  61. Shoham NG, Centola M, Mansfield E. et al. Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway. Proc Natl Acad Sci USA. 2003;100(23):13501-13506. doi:10.1073/pnas.2135380100
  62. Fernandes-Alnemri T, Wu J, Yu J-W. et al. The pyroptosome: a supramolecular assembly of ASC dimers mediating inflammatory cell death via caspase-1 activation. Cell Death Differ. 2007;14(9):1590-1604. doi:10.1038/sj.cdd.4402194
  63. Yu J-W, Fernandes-Alnemri T, Datta P. et al. Pyrin activates the ASC pyroptosome in response to engagement by autoinflammatory PSTPIP1 mutants. Mol Cell. 2007;28(2):214-227. doi:10.1016/j.molcel.2007.08.029
  64. El-Shanti HI, Ferguson PJ. Chronic recurrent multifocal osteomyelitis: a concise review and genetic update. Clin Orthop. 2007;462:11-19. doi:10.1097/BLO.0b013e3180986d73
  65. Ferguson PJ, El-Shanti HI. Autoinflammatory bone disorders. Curr Opin Rheumatol. 2007;19(5):492-498. doi:10.1097/BOR.0b013e32825f5492
  66. Majeed HA, Al-Tarawna M, El-Shanti H, Kamel B, Al-Khalaileh F. The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and a review. Eur J Pediatr. 2001;160(12):705-710. doi: 10.1007/s004310100799
  67. Ferguson PJ, Chen S, Tayeh MK. et al. Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). J Med Genet. 2005;42(7):551-557. doi:10.1136/jmg.2005.030759
  68. Byrd L, Grossmann M, Potter M, Shen-Ong GL. Chronic multifocal osteomyelitis, a new recessive mutation on chromosome 18 of the mouse. Genomics. 1991;11(4):794-798. doi: 10.1016/0888-7543(91)90002-V
  69. Ferguson PJ, Bing X, Vasef MA. et al. A missense mutation in pstpip2 is associated with the murine autoinflammatory disorder chronic multifocal osteomyelitis. Bone. 2006;38(1):41-47. doi:10.1016/j.bone.2005.07.009
  70. Houten SM, Kuis W, Duran M. et al. Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nat Genet. 1999;22(2):175-177. doi:10.1038/9691
  71. Hoffmann G, Gibson KM, Brandt IK, Bader PI, Wappner RS, Sweetman L. Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis. N Engl J Med. 1986; 314 (25):1610-1614. doi:10.1056/NEJM198606193142504
  72. Kuijk LM, Beekman JM, Koster J, Waterham HR, Frenkel J, Coffer PJ. HMG-CoA reductase inhibition induces IL-1beta release through Rac1/PI3K/PKB-dependent caspase-1 activation. Blood. 2008;112(9):3563-3573. doi:10.1182/blood-2008-03-144667
  73. van der Hilst JCH, Bodar EJ, Barron KS. et al. Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome. Medicine (Baltimore). 2008;87(6):301-310. doi:10.1097/MD.0b013e318190cfb7
  74. Houten SM, van Woerden CS, Wijburg FA, Wanders RJA, Waterham HR. Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands. Eur J Hum Genet EJHG. 2003;11(2):196-200. doi:10.1038/sj.ejhg.5200933
  75. Haas D, Hoffmann GF. Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome. Orphanet J Rare Dis. 2006;1:13. doi:10.1186/1750-1172-1-13
  76. Ruiz Gomez A, Couce ML, Garcia-Villoria J. et al. Clinical, genetic, and therapeutic diversity in 2 patients with severe mevalonate kinase deficiency. Pediatrics. 2012;129(2):e535-539. doi:10.1542/peds.2010-2192
  77. Cuisset L, Drenth JP, Simon A et al. Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome. Eur J Hum Genet EJHG. 2001;9(4):260-266. doi:10.1038/sj.ejhg.5200614
  78. Drenth JP, Boom BW, Toonstra J, Van der Meer JW. Cutaneous manifestations and histologic findings in the hyperimmunoglobulinemia D syndrome. International Hyper IgD Study Group. Arch Dermatol. 1994;130(1):59-65. doi:10.1001/archderm.1994.01690010063008
  79. Bader-Meunier B, Florkin B, Sibilia J. et al. Mevalonate kinase deficiency: a survey of 50 patients. Pediatrics. 2011;128(1):e152-159. doi:10.1542/peds.2010-3639
  80. Gattorno M, Sormani MP, D’Osualdo A. et al. A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children. Arthritis Rheum. 2008;58(6):1823-1832. doi:10.1002/art.23474
  81. Lachmann HJ, Goodman HJB, Andrews PA. et al. AA amyloidosis complicating hyperimmunoglobulinemia D with periodic fever syndrome: a report of two cases. Arthritis Rheum. 2006;54(6):2010-2014. doi:10.1002/art.21901
  82. Obici L, Manno C, Muda AO. et al. First report of systemic reactive (AA) amyloidosis in a patient with the hyperimmunoglobulinemia D with periodic fever syndrome. Arthritis Rheum. 2004;50(9):2966-2969. doi:10.1002/art.20490
  83. Siewert R, Ferber J, Horstmann RD, Specker C, Heering PJ, Timmann C. Hereditary periodic fever with systemic amyloidosis: is hyper-IgD syndrome really a benign disease? Am J Kidney Dis Off J Natl Kidney Found. 2006;48(3):e41-45. doi:10.1053/j.ajkd.2006.05.027
  84. Li Cavoli G, Passantino D, Tortorici C. et al. Renal amyloidosis due to hyper-IgD syndrome. Nefrol Publ Of Soc Esp Nefrol. 2012;32(6):865-866. doi:10.3265/Nefrologia.pre2012.Aug.11660
  85. Simon A, Bijzet J, Voorbij HA, Mantovani A, van der Meer JW, Drenth JP. Effect of inflammatory attacks in the classical type hyper-IgD syndrome on immunoglobulin D, cholesterol and parameters of the acute phase response. J Intern Med. 2004; 256(3):247-253. doi:10.1111/j.1365-2796.2004.01359.x
  86. Simon A, van Deuren M, Tighe PJ, van der Meer JW, Drenth JP. Genetic analysis as a valuable key to diagnosis and treatment of periodic Fever. Arch Intern Med. 2001;161(20):2491-2493. doi:10.1001/archinte.161.20.2491
  87. Cailliez M, Garaix F, Rousset-Rouvière C. et al. Anakinra is safe and effective in controlling hyperimmunoglobulinaemia D syndrome-associated febrile crisis. J Inherit Metab Dis. 2006;29(6):763. doi:10.1007/s10545-006-0408-7
  88. Bodar EJ, van der Hilst JCH, Drenth JPH, van der Meer JWM, Simon A. Effect of etanercept and anakinra on inflammatory attacks in the hyper-IgD syndrome: introducing a vaccination provocation model. Neth J Med. 2005;63(7):260-264.
  89. Mandey SHL, Schneiders MS, Koster J, Waterham HR. Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency. Hum Mutat. 2006;27(8):796-802. doi:10.1002/humu.20361
  90. Martinon F, Pétrilli V, Mayor A, Tardivel A, Tschopp J. Gout-associated uric acid crystals activate the NALP3 inflammasome. Nature. 2006;440(7081):237-241. doi:10.1038/nature04516
  91. Chen C-J, Shi Y, Hearn A. et al. MyD88-dependent IL-1 receptor signaling is essential for gouty inflammation stimulated by monosodium urate crystals. J Clin Invest. 2006;116(8):2262-2271. doi:10.1172/JCI28075
  92. McGonagle D, Tan AL, Shankaranarayana S, Madden J, Emery P, McDermott MF. Management of treatment resistant inflammation of acute on chronic tophaceous gout with anakinra. Ann Rheum Dis. 2007;66(12):1683-1684. doi:10.1136/ard.2007.073759
  93. So A, De Smedt T, Revaz S, Tschopp J. A pilot study of IL-1 inhibition by anakinra in acute gout. Arthritis Res Ther. 2007;9(2):R28. doi:10.1186/ar2143
  94. Obermayr RP, Temml C, Gutjahr G, Knechtelsdorfer M, Oberbauer R, Klauser-Braun R. Elevated uric acid increases the risk for kidney disease. J Am Soc Nephrol JASN. 2008;19(12):2407-2413. doi:10.1681/ASN.2008010080
  95. Emmerson BT, Cross M, Osborne JM, Axelsen RA. Reaction of MDCK cells to crystals of monosodium urate monohydrate and uric acid. Kidney Int. 1990;37(1):36-43. doi:https://doi.org/10.1038/ki.1990.5
  96. Isaka Y, Takabatake Y, Takahashi A, Saitoh T, Yoshimori T. Hyperuricemia-induced inflammasome and kidney diseases. Nephrol Dial Transplant Off Publ Eur Dial Transpl Assoc - Eur Ren Assoc. 2016;31(6):890-896. doi:10.1093/ndt/gfv024
  97. Mulay SR, Kulkarni OP, Rupanagudi KV. et al. Calcium oxalate crystals induce renal inflammation by NLRP3-mediated IL-1β secretion. J Clin Invest. 2013;123(1):236-246. doi:10.1172/JCI63679
  98. Coca SG, Yalavarthy R, Concato J, Parikh CR. Biomarkers for the diagnosis and risk stratification of acute kidney injury: a systematic review. Kidney Int. 2008;73(9):1008-1016. doi:10.1038/sj.ki.5002729
  99. Wu H, Craft ML, Wang P. et al. IL-18 contributes to renal damage after ischemia-reperfusion. J Am Soc Nephrol JASN. 2008; 19(12):2331-2341. doi:10.1681/ASN.2008020170
  100. Iyer SS, He Q, Janczy JR et al. Mitochondrial cardiolipin is required for Nlrp3 inflammasome activation. Immunity. 2013; 39(2):311-323. doi:10.1016/j.immuni.2013.08.001
  101. Kim H-J, Lee DW, Ravichandran K. et al. NLRP3 inflammasome knockout mice are protected against ischemic but not cisplatin-induced acute kidney injury. J Pharmacol Exp Ther. 2013;346(3):465-472. doi:10.1124/jpet.113.205732
  102. Chan AJ, Alikhan MA, Odobasic D. et al. Innate IL-17A-producing leukocytes promote acute kidney injury via inflammasome and Toll-like receptor activation. Am J Pathol. 2014;184(5):1411-1418. doi:10.1016/j.ajpath.2014.01.023
  103. Furuichi K, Wada T, Iwata Y. et al. Interleukin-1-dependent sequential chemokine expression and inflammatory cell infiltration in ischemia-reperfusion injury. Crit Care Med. 2006;34(9):2447-2455. doi:10.1097/01.CCM.0000233878.36340.10
  104. L’homme L, Esser N, Riva L. et al. Unsaturated fatty acids prevent activation of NLRP3 inflammasome in human monocytes/macrophages. J Lipid Res. 2013;54(11):2998-3008. doi:10.1194/jlr.M037861
  105. Mirza RE, Fang MM, Weinheimer-Haus EM, Ennis WJ, Koh TJ. Sustained inflammasome activity in macrophages impairs wound healing in type 2 diabetic humans and mice. Diabetes. 2014;63(3):1103-1114. doi:10.2337/db13-0927
  106. Shahzad K, Bock F, Dong W. et al. Nlrp3-inflammasome activation in non-myeloid-derived cells aggravates diabetic nephropathy. Kidney Int. 2015;87(1):74-84. doi:10.1038/ki.2014.271
  107. Perkins RC, Scheule RK, Hamilton R, Gomes G, Freidman G, Holian A. Human alveolar macrophage cytokine release in response to in vitro and in vivo asbestos exposure. Exp Lung Res. 1993;19(1):55-65.
  108. Hornung V, Bauernfeind F, Halle A. et al. Silica crystals and aluminum salts activate the NALP3 inflammasome through phagosomal destabilization. Nat Immunol. 2008;9(8):847-856. doi:10.1038/ni.1631
  109. Dostert C, Pétrilli V, Van Bruggen R, Steele C, Mossman BT, Tschopp J. Innate immune activation through Nalp3 inflammasome sensing of asbestos and silica. Science. 2008;320(5876):674-677. doi:10.1126/science.1156995
  110. Hugot JP, Chamaillard M, Zouali H. et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn’s disease. Nature. 2001;411(6837):599-603. doi:10.1038/35079107
  111. Ogura Y, Bonen DK, Inohara N. et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn’s disease. Nature. 2001;411(6837):603-606. doi:10.1038/35079114
  112. Barrett JC, Hansoul S, Nicolae DL. et al. Genome-wide association defines more than 30 distinct susceptibility loci for Crohn’s disease. Nat Genet. 2008;40(8):955-962. doi:10.1038/ng.175
  113. Fisher SA, Tremelling M, Anderson CA. et al. Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn’s disease. Nat Genet. 2008;40(6):710-712. doi:10.1038/ng.145
  114. Franke A, Balschun T, Karlsen TH. et al. Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility. Nat Genet. 2008;40(11):1319-1323. doi:10.1038/ng.221
  115. Inohara N, Ogura Y, Fontalba A. et al. Host recognition of bacterial muramyl dipeptide mediated through NOD2. Implications for Crohn’s disease. J Biol Chem. 2003;278(8):5509-5512. doi:10.1074/jbc.C200673200
  116. Inohara null, Chamaillard null, McDonald C, Nuñez G. NOD-LRR proteins: role in host-microbial interactions and inflammatory disease. Annu Rev Biochem. 2005;74:355-383. doi:10.1146/annurev.biochem.74.082803.133347
  117. Inohara N, Ogura Y, Chen FF, Muto A, Nuñez G. Human Nod1 confers responsiveness to bacterial lipopolysaccharides. J Biol Chem. 2001;276(4):2551-2554. doi:10.1074/jbc.M009728200
  118. Rosé CD, Wouters CH, Meiorin S. et al. Pediatric granulomatous arthritis: an international registry. Arthritis Rheum. 2006; 54(10):3337-3344. doi:10.1002/art.22122
  119. Rosé CD, Aróstegui JI, Martin TM. et al. NOD2-associated pediatric granulomatous arthritis, an expanding phenotype: study of an international registry and a national cohort in Spain. Arthritis Rheum. 2009;60(6):1797-1803. doi:10.1002/art.24533
  120. Rose CD, Martin TM, Wouters CH. Blau syndrome revisited. Curr Opin Rheumatol. 2011;23(5):411-418. doi:10.1097/BOR.0b013e328349c430
  121. Haas SL, Lohse P, Schmitt WH. et al. Severe TNF receptor-associated periodic syndrome due to 2 TNFRSF1A mutations including a new F60V substitution. Gastroenterology. 2006; 130(1):172-178. doi:10.1053/j.gastro.2005.09.014
  122. Lainka E, Neudorf U, Lohse P. et al. Incidence of TNFRSF1A mutations in German children: epidemiological, clinical and genetic characteristics. Rheumatol Oxf Engl. 2009;48(8):987-991. doi:10.1093/rheumatology/kep140
  123. Stojanov S, McDermott MF. The tumour necrosis factor receptor-associated periodic syndrome: current concepts. Expert Rev Mol Med. 2005;7(22):1-18. doi:10.1017/S1462399405009749
  124. Hull KM, Wong K, Wood GM, Chu W-S, Kastner DL. Monocytic fasciitis: a newly recognized clinical feature of tumor necrosis factor receptor dysfunction. Arthritis Rheum. 2002;46(8):2189-2194. doi:10.1002/art.10448
  125. Jesus AA, Oliveira JB, Aksentijevich I. et al. TNF receptor-associated periodic syndrome (TRAPS): description of a novel TNFRSF1A mutation and response to etanercept. Eur J Pediatr. 2008;167(12):1421-1425. doi:10.1007/s00431-008-0685-2
  126. Huggins ML, Radford PM, McIntosh RS. et al. Shedding of mutant tumor necrosis factor receptor superfamily 1A associated with tumor necrosis factor receptor-associated periodic syndrome: differences between cell types. Arthritis Rheum. 2004;50(8):2651-2659. doi:10.1002/art.20380
  127. Simon A, Park H, Maddipati R. et al. Concerted action of wild-type and mutant TNF receptors enhances inflammation in TNF receptor 1-associated periodic fever syndrome. Proc Natl Acad Sci USA. 2010;107(21):9801-9806. doi:10.1073/pnas.0914118107
  128. Hull KM, Drewe E, Aksentijevich I. et al. The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder. Medicine (Baltimore). 2002;81(5):349-368.
  129. Gattorno M, Pelagatti MA, Meini A, et al. Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum. 2008;58(5):1516-1520. doi:10.1002/art.23475
  130. Sacré K, Brihaye B, Lidove O. et al. Dramatic improvement following interleukin 1beta blockade in tumor necrosis factor receptor-1-associated syndrome (TRAPS) resistant to anti-TNF-alpha therapy. J Rheumatol. 2008;35(2):357-358.
  131. Sims A-M, Wordsworth BP, Brown MA. Genetic susceptibility to ankylosing spondylitis. Curr Mol Med. 2004;4(1):13-20.
  132. Dangoria NS, DeLay ML, Kingsbury DJ. et al. HLA-B27 misfolding is associated with aberrant intermolecular disulfide bond formation (dimerization) in the endoplasmic reticulum. J Biol Chem. 2002;277(26):23459-23468. doi:10.1074/jbc.M110336200
  133. Colbert RA. The immunobiology of HLA-B27: variations on a theme. Curr Mol Med. 2004;4(1):21-30.
  134. Burton PR, Clayton DG, Cardon LR. et al. Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet. 2007;39(11):1329-1337. doi:10.1038/ng.2007.17
  135. Chen Z, O’Shea JJ. Th17 cells: a new fate for differentiating helper T cells. Immunol Res. 2008;41(2):87-102. doi:10.1007/s12026-007-8014-9
  136. Cargill M, Schrodi SJ, Chang Met. al. A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes. Am J Hum Genet. 2007;80(2):273-290. doi:10.1086/511051
  137. Obici L, Merlini G. Amyloidosis in autoinflammatory syndromes. Autoimmun Rev. 2012;12(1):14-17. doi:10.1016/j.autrev.2012.07.016
  138. Saatçi U, Ozen S, Ozdemir S. et al. Familial Mediterranean fever in children: report of a large series and discussion of the risk and prognostic factors of amyloidosis. Eur J Pediatr. 1997;156(8):619-623.
  139. van der Hilst JCH, Yamada T, Op den Camp HJM, van der Meer JWM, Drenth JPH, Simon A. Increased susceptibility of serum amyloid A 1.1 to degradation by MMP-1: potential explanation for higher risk of type AA amyloidosis. Rheumatol Oxf Engl. 2008;47(11):1651-1654. doi:10.1093/rheumatology/ken371
  140. Ledue TB, Weiner DL, Sipe JD, Poulin SE, Collins MF, Rifai N. Analytical evaluation of particle-enhanced immunonephelometric assays for C-reactive protein, serum amyloid A and mannose-binding protein in human serum. Ann Clin Biochem. 1998;35 ( Pt 6):745-753.
  141. Obici L, Raimondi S, Lavatelli F, Bellotti V, Merlini G. Susceptibility to AA amyloidosis in rheumatic diseases: a critical overview. Arthritis Rheum. 2009;61(10):1435-1440. doi:10.1002/art.24735
  142. Pras E, Livneh A, Balow JE. et al. Clinical differences between North African and Iraqi Jews with familial Mediterranean fever. Am J Med Genet. 1998;75(2):216-219. doi:10.1002/(SICI)1096-8628(19980113)75:2<216::AID-AJMG20>3.0.CO;2-R
  143. Mor A, Shinar Y, Zaks N. et al. Evaluation of Disease Severity in Familial Mediterranean Fever. Semin Arthritis Rheum. 2005;35(1):57-64. doi:10.1016/j.semarthrit.2005.02.002
  144. Kuemmerle-Deschner JB, Tyrrell PN, Koetter I. et al. Efficacy and safety of anakinra therapy in pediatric and adult patients with the autoinflammatory Muckle-Wells syndrome. Arthritis Rheum. 2011;63(3):840-849. doi:10.1002/art.30149
  145. Piram M, Frenkel J, Gattorno M et al. A preliminary score for the assessment of disease activity in hereditary recurrent fevers: results from the AIDAI (Auto-Inflammatory Diseases Activity Index) Consensus Conference. Ann Rheum Dis. 2011;70(2):309-314. doi:10.1136/ard.2010.132613
  146. Piram M, Koné-Paut I, Lachmann HJ. et al. Validation of the auto-inflammatory diseases activity index (AIDAI) for hereditary recurrent fever syndromes. Ann Rheum Dis. 2014;73(12):2168-2173. doi:10.1136/annrheumdis-2013-203666
  147. Means RT, Krantz SB. Progress in understanding the pathogenesis of the anemia of chronic disease. Blood. 1992;80(7):1639-1647.
  148. Raj DSC. Role of interleukin-6 in the anemia of chronic disease. Semin Arthritis Rheum. 2009;38(5):382-388. doi:10.1016/j.semarthrit.2008.01.006
  149. Rusten LS, Jacobsen SE. Tumor necrosis factor (TNF)-alpha directly inhibits human erythropoiesis in vitro: role of p55 and p75 TNF receptors. Blood. 1995;85(4):989-996.
  150. Papadaki HA, Kritikos HD, Valatas V, Boumpas DT, Eliopoulos GD. Anemia of chronic disease in rheumatoid arthritis is associated with increased apoptosis of bone marrow erythroid cells: improvement following anti-tumor necrosis factor-alpha antibody therapy. Blood. 2002;100(2):474-482. doi:10.1182/blood-2002-01-0136
  151. Means RT, Krantz SB. Inhibition of human erythroid colony-forming units by tumor necrosis factor requires beta interferon. J Clin Invest. 1993;91(2):416-419. doi:10.1172/JCI116216
  152. Cazzola M, Ponchio L, de Benedetti F. et al. Defective iron supply for erythropoiesis and adequate endogenous erythropoietin production in the anemia associated with systemic-onset juvenile chronic arthritis. Blood. 1996;87(11):4824-4830.
  153. Forget P, Khalifa C, Defour J-P, Latinne D, Van Pel M-C, De Kock M. What is the normal value of the neutrophil-to-lymphocyte ratio? BMC Res Notes. 2017;10. doi:10.1186/s13104-016-2335-5
  154. Ahsen A, Ulu MS, Yuksel S. et al. As a new inflammatory marker for familial Mediterranean fever: neutrophil-to-lymphocyte ratio. Inflammation. 2013;36(6):1357-1362. doi:10.1007/s10753-013-9675-2
  155. Celikbilek M, Dogan S, Akyol L. et al. Neutrophil-lymphocyte ratio in patients with familial Mediterranean fever. J Clin Lab Anal. 2015;29(1):80-83. doi:10.1002/jcla.21732
  156. Stroka KM, Hayenga HN, Aranda-Espinoza H. Human neutrophil cytoskeletal dynamics and contractility actively contribute to trans-endothelial migration. PloS One. 2013;8(4):e61377. doi:10.1371/journal.pone.0061377
  157. Soriano A, Manna R. Familial Mediterranean fever: new phenotypes. Autoimmun Rev. 2012;12(1):31-37. doi:10.1016/j.autrev.2012.07.019
  158. Paulus HE, Brahn E. Is erythrocyte sedimentation rate the preferable measure of the acute phase response in rheumatoid arthritis? J Rheumatol. 2004;31(5):838-840.
  159. Wagner-Weiner L. Laboratory evaluation of children with rheumatic disease. Pediatr Ann. 2002;31(6):362-371. doi: 10.3928/0090-4481-20020601-08
  160. Lachmann HJ, Goodman HJB, Gilbertson JA. et al. Natural history and outcome in systemic AA amyloidosis. N Engl J Med. 2007;356(23):2361-2371. doi:10.1056/NEJMoa070265
  161. Aganna E, Hawkins PN, Ozen S. et al. Allelic variants in genes associated with hereditary periodic fever syndromes as susceptibility factors for reactive systemic AA amyloidosis. Genes Immun. 2004;5(4):289-293. doi:10.1038/sj.gene.6364070
  162. Cantarini L, Rigante D, Lucherini OM. et al. Role of etanercept in the treatment of tumor necrosis factor receptor-associated periodic syndrome: personal experience and review of the literature. Int J Immunopathol Pharmacol. 2010;23(3):701-707.
  163. Duzova A, Bakkaloglu A, Besbas N. et al. Role of A-SAA in monitoring subclinical inflammation and in colchicine dosage in familial Mediterranean fever. Clin Exp Rheumatol. 2003;21(4):509-514. doi:http://dx.doi.org/10.1016/j.clinbiochem.2016.11.008
  164. Manukyan GP, Ghazaryan KA, Ktsoyan ZA. et al. Cytokine profile of Armenian patients with Familial Mediterranean fever. Clin Biochem. 2008;41(10-11):920-922. doi:10.1016/j.clinbiochem.2008.03.017
  165. Foell D, Wittkowski H, Roth J. Mechanisms of disease: a “DAMP” view of inflammatory arthritis. Nat Clin Pract Rheumatol. 2007;3(7):382-390. doi:10.1038/ncprheum0531
  166. Lotze MT, Tracey KJ. High-mobility group box 1 protein (HMGB1): nuclear weapon in the immune arsenal. Nat Rev Immunol. 2005;5(4):331-342. doi:10.1038/nri1594
  167. Yan WX, Armishaw C, Goyette J. et al. Mast cell and monocyte recruitment by S100A12 and its hinge domain. J Biol Chem. 2008;283(19):13035-13043. doi:10.1074/jbc.M710388200
  168. Yang H, Reinherz EL. CD2BP1 modulates CD2-dependent T cell activation via linkage to protein tyrosine phosphatase (PTP)-PEST. J Immunol Baltim Md 1950. 2006;176(10):5898-5907.
  169. Newton RA, Hogg N. The human S100 protein MRP-14 is a novel activator of the beta 2 integrin Mac-1 on neutrophils. J Immunol Baltim Md 1950. 1998;160(3):1427-1435.
  170. Foell D, Wittkowski H, Hammerschmidt I. et al. Monitoring neutrophil activation in juvenile rheumatoid arthritis by S100A12 serum concentrations. Arthritis Rheum. 2004;50(4):1286-1295. doi:10.1002/art.20125
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