Información del artículo
Resumen
Presentamos un artículo de revisión sobre las enfermedades autoinflamatorias, narrando su origen histórico y describiendo la estructura proteica y molecular del Inflamosoma, la clasificación actual de los trastornos autoinflamatorios y una descripción de las características inmunogenéticas y clínicas más sobresalientes de cada enfermedad.
Palabras clave:
enfermedades autoinflamatorias
inflamosoma
inflamosomopatías
criopirina.
Summary
We present a review article on the autoinflammatory diseases, narrating its historical origin and describing the protein and molecular structure of the Inflammasome, the current classification of the autoinflammatory diseases and a description of the immunogenetics and clinical characteristics more important of every disease.
Key words:
autoinflammatory diseases
inflammasome
inflammasomopathies
cryopyrin.
El Texto completo está disponible en PDF
Referencias
[1.]
S. Masters, A. Simon, I. Aksentijevich, D. Kastner, Horror Autoinflammaticus:.
The Molecular Pathophysiology of Autoinflammatory Disease.
Annu Rev Immunol, 27 (2009), pp. 621-668
[2.]
J.A. Harton, M.W. Linhoff, J. Zhang, J.P. Ting.
Cutting edge: CATERPILLER: a large family of mammalian genes containing CARD, pyrin, nucleotide-binding, and leucine-rich repeat domains.
J Immunol, 169 (2002), pp. 4088-4093
[3.]
H.M. Hoffman, J.L. Mueller, D.H. Broide, A.A. Wanderer, R.D. Kolodner.
Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome.
Nat Genet, 29 (2001), pp. 301-305
[4.]
J. Tschopp, F. Martinon, K. Burns, NALPs:.
a novel protein family involved in inflammation.
Nature Reviews Molecular Cell Biology, (2003), pp. 95-104
[5.]
L. Franchi, T. Eigenbrod, R. Muñoz-Planillo, G. Núñez.
The inflammasome: a caspase-1 activation platform that regulates immune responses and disease pathogenesis.
Nat Immunol, 10 (2009), pp. 241-247
[6.]
L. Eicke.
The inflammasomes: mechanisms of activation and function.
Current Opinion in Immunology, 22 (2010), pp. 28-33
[7.]
F. Martinon, J. Tschopp.
Inflammatory caspases: linking an intracellular innate immune system to autoinflammatory diseases.
Cell, 117 (2004), pp. 561-574
[8.]
F. Martinon, K. Burns, J. Tschopp.
The inflammasome: a molecular platform triggering activation of inflammatory caspases and processing of proIL-beta.
Mol Cell, 10 (2002), pp. 417-426
[9.]
E.A. Miao, et al.
Cytoplasmic flagellin activates caspase-1 and secretion of interleukin 1β via Ipaf.
Nat Immunol, 7 (2006), pp. 569-575
[10.]
S. Mariathasan, et al.
Cryopyrin activates the inflammasome in response to toxins and ATP.
Nature, 440 (2006), pp. 228-232
[11.]
V. Pétrilli, C. Dostert, D.A. Muruve, J. Tschopp.
The inflammasome: a danger sensing complex triggering innate immunity.
Current Opinion in Immunology, 19 (2007), pp. 615-622
[12.]
F. Martinon, V. Petrilli, A. Mayor, A. Tardivel, J. Tschopp.
Gout-associated uric acid crystals activate the NALP3 inflammasome.
Nature, 440 (2006), pp. 237-241
[13.]
A. So, T. De Smedt, S. Revaz, J. Tschopp.
A pilot study of IL-1 inhibition by anakinra in acute gout.
Arthritis Res Ther, 9 (2007), pp. R28
[14.]
V. Pétrilli, F. Martinon.
The inflammasome, autoinflammatory diseases, and gout.
Joint Bone Spine, 74 (2007), pp. 571-576
[15.]
I. Aksentijevich, M. Nowak, M. Mallah, J.J. Chae, W.T. Watford, 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, 46 (2002), pp. 3340-3348
[16.]
J.A. Duncan, D.T. Bergstralh, Y. Wang, S.B. Willingham, Z. Ye, A.G. Zimmermann, J.P. Ting.
Cryopyrin/NALP3 binds ATP/dATP, is an ATPase, and requires ATP binding to mediate inflammatory signaling.
Proc Natl Acad Sci USA, 104 (2007), pp. 8041-8046
[17.]
R. Goldbach-Mansky, N.J. Dailey, S.W. Canna, A. Gelabert, J. Jones, et al.
Neonatal-onset multisystem inflammatory disease responsive to interleukin-1β inhibition.
N Engl J Med, 355 (2006), pp. 581-592
[18.]
E. Mansfield, J.J. Chae, H.D. Komarow, T.M. Brotz, D.M. Frucht, et al.
The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments.
Blood, 98 (2001), pp. 851-859
[19.]
N.G. Shoham, M. Centola, E. Mansfield, K.M. Hull, G. Wood, 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, 100 (2003), pp. 13501-13506
[20.]
J.W. Yu, T. Fernandes-Alnemri, P. Datta, J. Wu, C. Juliana, et al.
Pyrin activates the ASC pyroptosome in response to engagement by autoinflammatory PSTPIP1 mutants.
Mol Cell, 28 (2007), pp. 214-227
[21.]
H.I. El-Shanti, P.J. Ferguson.
Chronic recurrent multifocal osteomyelitis: a concise review and genetic update.
Clin Orthop Relat Res, 462 (2007), pp. 19
[22.]
I. Aksentijevich, S. Masters, P. Ferguson, et al.
An Autoinflammatory Disease with Deficiency of the Interleukin-1-Receptor Antagonist.
N Engl J Med, 360 (2009), pp. 2426-2437
[23.]
G. Hoffmann, K.M. Gibson, I.K. Brandt, P.I. Bader, R.S. Wappner, L. Sweetman.
Mevalonic aciduria-an inborn error of cholesterol and nonsterol isoprene biosynthesis.
N Engl J Med, 314 (1986), pp. 1610-1614
[24.]
L.M. Kuijk, J.M. Beekman, J. Koster, H.R. Waterham, J. Frenkel, P.J. Coffer.
HMG-CoA reductase inhibition induces IL-1β release through Rac1/PI3K/PKBdependent caspase-1 activation.
Blood, 112 (2008), pp. 3563-3573
[25.]
N. Kanazawa, I. Okafuji, N. Kambe, R. Nishikomori, M. Nakata-Hizume, et al.
Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor- κB activation: common genetic etiology with Blau syndrome.
Blood, 105 (2005), pp. 1195-1197
[26.]
I. Aksentijevich, J. Galon, M. Soares, E. Mansfield, K. Hull, et al.
The tumor-necrosis-factor receptor associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers.
Am J Hum Genet, 69 (2001), pp. 301-314
Copyright © 2010. Asociación Colombiana de Reumatología
