Article information
Abstract
Systemic autoinflammatory diseases encompass different rare clinical entities characterized by recurrent acute inflammatory episodes secondary to a dysregulated inflammatory process. Since their first clinical descriptions, the Mendelian hereditary nature of some of them became evident, with their genetic and molecular basis being recently elucidated. There are disease-causing mutations in genes encoding for different proteins involved in the innate immune response and inflammation. Herein, we will introduce the reader to an updated review of the main clinical, physiopathological and therapeutic features of the different hereditary systemic autoinflammatory diseases.
Keywords:
Autoinflammatory diseases
Hereditary periodic fever syndrome
Innate immune response
Inflammasome
Nod-like receptor
Pyrin
Interleukin-1beta
TNF
Resumen
Las enfermedades autoinflamatorias sistémicas engloban un conjunto de enfermedades poco frecuentes caracterizadas todas ellas por la presencia de episodios inflamatorios agudos y recurrentes, que son consecuencia de una disregulación del control del proceso inflamatorio. Desde sus respectivas descripciones clínicas, se había observado un claro patrón hereditario mendeliano para algunas de ellas. En fechas recientes se han identificado los defectos genéticos y moleculares subyacentes al identificarse mutaciones responsables de enfermedad en diferentes genes relacionados con la respuesta inmune innata y con la inflamación. A lo largo de la presente revisión se abordarán de una manera actualizada los principales aspectos clínicos, fisiopatológicos y terapéuticos de las diferentes enfermedades autoinflamatorias hereditarias.
Palabras clave:
Enfermedades autoinflamatorias
Síndromes hereditarios de fiebre periódica
Respuesta inmune innata
Inflamasoma
Nod-like receptor
Pirina
Interleucina-1beta
TNF
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References
[1.]
M.F. McDermott, I. Aksentijevich, J. Galon, E.M. McDermott, B.W. Ogunkolade, M. Centola, et al.
Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes.
Cell, 97 (1999), pp. 133-144
[2.]
D.L. Kastner, S. Brydges, K.M. Hull.
Chapter 27: Periodic fever syndromes.
Primary immunodeficiency diseases. A molecular and genetic approach, Second edition, pp. 367-389
[3.]
S. Brydges, D.L. Kastner.
The systemic autoinflammatory diseases: inborn errors of the innate immune system.
Curr Top Microbiol Immunol., 305 (2006), pp. 127-160
[4.]
J.P.H. Drenth, J.W.M. Van Der Meer.
Hereditary periodic fever.
N Engl J Med, 345 (2001), pp. 1748-1757
[5.]
J. Samuels, I. Aksentijevich, Y. Torosyan, M. Centola, Z. Deng, R. Sood, et al.
Familial Mediterranean fever at the millennium. Clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health.
Medicine (Baltimore)., 77 (1998), pp. 268-297
[6.]
E. Ben-Chetrit, M. Levy.
Familial Mediterranean fever.
Lancet., 351 (1998), pp. 659-664
[7.]
H.J. Lachmann, H.J.B. Goodman, J.A. Gilbertson, J.R. Galimore, C.A. Sabin, J.D. Gilmore, et al.
Natural History and outcome in systemic AA amyloidosis.
N Engl J Med., 356 (2007), pp. 2361-2371
[8.]
R.C. Goldstein, A.D. Schwabe.
Prophylactic colchicine therapy in familial Mediterranean fever. A controlled, double-blind study.
Ann Intern Med., 81 (1974), pp. 792-794
[9.]
C.A. Dinarello, S.M. Wolff, S.E. Goldfinger, D.C. Dale, D.W. Alling.
Colchicine therapy for Familial Mediterranean Fever. A double-blind trial.
N Engl J Med., 291 (1974), pp. 934-937
[10.]
D. Zemer, M. Revach, M. Pras, B. Modan, S. Schor, E. Sohar, et al.
A controlled trial of colchicine in preventing attacks of familial Mediterranean fever.
N Engl J Med., 291 (1974), pp. 932-934
[11.]
The International FMF Consortium.
Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever.
Cell, 90 (1997), pp. 797-807
[12.]
The French FMF Consortium.
A candidate gene for familial Mediterranean fever.
Nat Genet, 17 (1997), pp. 25-31
[13.]
F. Martinon, K. Burns, J. Tschopp.
The inflammasome: a molecular platform triggering activation of inflammatory caspases and processing of proIL-b.
Mol Cell., 10 (2002), pp. 417-426
[14.]
C. Dode, C. Pecheux, C. Cazeneuve, D. Cattan, M. Dervichian, M. Goossens, et al.
Mutations in the MEFV gene in a large series of patients with a clinical diagnosis of familial Mediterranean fever.
Am J Med Genet., 92 (2000), pp. 241-246
[15.]
L.M. Williamson, D. Hull, R. Mehta, W.G. Reeves, B.H. Robinson, P.J. Toghill.
Familial hibernian fever.
Quart J Med., 51 (1982), pp. 469-480
[16.]
J. Mulley, K. Saar, G. Hewitt, F. Rüschendorf, H. Phillips, A. Colley, et al.
Gene localization for an autosomal dominant familial periodic fever to 12p13.
Am J Hum Genet., 62 (1998), pp. 884-889
[17.]
L. Karenko, T. Pettersson, P. Roberts.
Autosomal dominant “Mediterranean fever” in a Finnishf amily.
J Int Med., 232 (1992), pp. 365-369
[18.]
K.M. Hull, E. Drewe, I. Aksentijevich, H.K. Singh, K. Wong, E.M. McDermott, et al.
The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder.
Medicine (Baltimore)., 81 (2002), pp. 349-368
[19.]
I. Touitou, S. Lesage, M.F. McDermott, L. Cuisset, H. Hoffman, C. Dode, et al.
INFEVERS: an evolving mutation database for auto-inflammatory syndromes.
Hum Mut., 24 (2004), pp. 194-198
[20.]
E. Drewe, E.M. McDermott, P.T. Powell, J.D. Isaacs, R.J. Powell.
Prospective study of anti-tumour necrosis factor receptor superfamily 1B fusion protein, and case study of anti-tumour necrosis factor receptor superfamily 1A fusion protein, in tumour necrosis factor receptor associated periodic syndrome (TRAPS): clinical and laboratory findings in a series of seven patients.
Rheumatology., 42 (2003), pp. 235-239
[21.]
K.M. Hull, D.L. Kastner, J.E. Balow.
Hereditary periodic fever.
N Engl J Med., 346 (2002), pp. 1415
[22.]
J.I. Arostegui, P. Solis, A. Aldea, T. Cantero, J. Rius, P. Bahillo, et al.
Etanercept plus colchicine treatment in a child with tumour necrosis factor receptor-associated periodic syndrome abolishes auto-inflammatory episodes without normalising the subclinical acute phase response.
Eur J Pediatr., 164 (2005), pp. 13-16
[23.]
A. Simon, E.J. Bodar, J.C.H. Vander Hilst, J.V.M. Van der Meer, T.J.W. Fiselier, M.P.J. Cuppen, et al.
Beneficial response to interleukin 1 receptor antagonist in TRAPS.
Am J Med., 117 (2004), pp. 208-210
[24.]
M. Gattorno, M.A. Pelagatti, A. Meini, L. Obici, R. Barcellona, S. Federici, et al.
Persistent efficacy of anakinra in patients with tumor necrosis factor receptor- associated periodic syndrome.
Arthritis Rheum., 58 (2008), pp. 1516-1529
[25.]
J.W. Van der Meer, J.M. Vossen, J. Radl, J.A. Van Nieuwkoop, C.J. Meyer, S. Lobatto, et al.
Hyperimmunoglobulinaemia D and periodic fever: a new syndrome.
Lancet., 1 (1984), pp. 1087-1090
[26.]
J.P.H. Drenth, C.J. Haagsma, J.W. Van der Meer, International Hyper-IgD study group.
Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrumina series of 50 patients.
Medicine (Baltimore)., 73 (1994), pp. 133-144
[27.]
J.C.H. Van der Hilst, E.J. Bodar, K.S. Barron, J. Frenkel, J.P.H. Drenth, J.W.M. Van der Meer, et al.
Long-term follow-up, linical features, and quality of lifeina series of 103 patients with hyperimmunoglobulinemia D syndrome.
Medicine (Baltimore)., 87 (2008), pp. 301-310
[28.]
L. Obici, C. Manno, A.O. Muda, P. Picco, A. D’Osualdo, G. Palladini, et al.
First report of systemic reactive (AA) amyloidosis in a patient with the hyperimmunoglobulinemia D with periodic fever syndrome.
Arthritis Rheum., 50 (2004), pp. 2966-2969
[29.]
H.J. Lachmann, H.J. Goodman, P.A. Andrews, H. Gallagher, J. Marsh, S. Breuer, et al.
AA amyloidosis complicating hyperimmunoglobulinemia D with periodic fever syndrome: are port of two cases.
Arthritis Rheum., 54 (2006), pp. 2010-2014
[30.]
S.M. Houten, W. Kuis, M. Duran, T.J. De Koning, A. Van Royen-Kerkhof, G.J. Romeijn, et al.
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome.
Nat Genet., 22 (1999), pp. 175-177
[31.]
J.P. Drenth, L. Cuisset, G. Grateau, C. Vasseur, S.D. Van de Velde-Visser, J.G. DeJong, International Hyper-IgD Study Group, et al.
Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome.
Nat Genet., 22 (1999), pp. 178-181
[32.]
G.F. Hoffmann, K.M. Gibson, I.K. Brandt, P.I. Bader, R.S. Wappner, L. Sweetman, et al.
Mevalonic aciduria: an inborn error of cholesterol and nonsterol isoprene biosynthesis.
N Engl J Med., 314 (1986), pp. 1610-1614
[33.]
A. Simon, H.P.H. Kremer, R.A. Wevers, H. Scheffer, J.G. De Jong, J.W.M. Van der Meer, et al.
Mevalonate kinase deficiency: evidence for a phenotypic continuum.
Neurology., 62 (2004), pp. 994-997
[34.]
L. Cuisset, J.P.H. Drenth, A. Simon, M.F. Vincent, S. Van der Velde Visser, J.W.M. Van der Meer, et al.
Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome.
Eur J Hum Genet., 9 (2001), pp. 260-266
[35.]
P. Picco, M. Gattorno, M. Di Rocco, A. Buoncompagni.
Non-steroidal anti-inflammatory drugs in the treatment of hyper-IgD syndrome.
Ann Rheum Dis., 60 (2001), pp. 904
[36.]
J.P.H. Drenth, A.G. Vonk, A. Simon, R. Powell, J.W.M. Van der Meer.
Limited efficacy of thalidomide in the treatment of febrile attacks of the hyper-IgD and periodic fever syndrome: a randomized, double-blind, placebo controlled trial.
J Pharmacol Exp Ther., 298 (2001), pp. 1221-1226
[37.]
K. Takada, I. Aksentijevich, V. Mahadevan, J.A. Dean, R.I. Kelley, D.L. Kastner.
Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome.
Arthritis Rheum., 48 (2003), pp. 2645-2651
[38.]
A. Simon, E. Drewe, J.W. Van der Meer, R.J. Powell, R.I. Kelley, A.F.H. Stalenhoef, et al.
Simvastatin treatment for inflammatory attacks of the hyperimmunoglobulinemia D and periodic fever syndrome.
Clin Pharmacol Ther., 75 (2004), pp. 476-483
[39.]
E.J. Bodar, J.C.H. Van der Hilst, J.P.H. Drenth, J.W.M. Van der Meer, A. Simon.
Effect of etanercept and anakinra on inflammatory attacks in the hyper-IgD syndrome: introducing a vaccination provocation model.
Neth J Med., 63 (2005), pp. 260-264
[40.]
M. Cailliez, F. Garaix, C. Rousset-Rouviere, D. Bruno, I. Kone-Paut, J. Sarles, et al.
Anakinra is safe and effective in controlling hyperimmunoglobulinaemia D syndrome-associated febrile crisis.
J Inherit Metab Dis., 29 (2006), pp. 763
[41.]
R.L. Kile, H.A. Rusk.
A case of coldurticaria with an unusual family history.
J Am Med Assoc., 114 (1940), pp. 1067-1068
[42.]
F.G. Witherspoon, C.B. White, H. Hailey.
Familial urticarial due to cold.
Arch Dermatol Syphilol., 58 (1948), pp. 52-55
[43.]
T.J. Muckle, M. Wells.
Urticaria, deafness, and amyloidosis: a new heredo-familial syndrome.
QJM, 31 (1962), pp. 235-248
[44.]
A.M. Prieur, C. Griscelli.
Arthropathy with rash, chronic meningitis, eye lesions, and mental retardation.
J Pediatr., 99 (1981), pp. 79-83
[45.]
A.M. Prieur, C. Griscelli, F. Lampert, H. Truckenbrodt, M.A. Guggenheim, D.J. Lovell, et al.
A chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome. A specific entity analysed in 30 patients.
Scand J Rheumatology., 66 (1987), pp. 57-68
[46.]
H.M. Hoffman, J.L. Mueller, D.H. Broide, A.A. Wanderer, R.D. Kolodner.
Mutations of a new gene encoding a putative pyrin-like protein causes familial cold autoinflamatory syndrome and Muckle-Wells syndrome.
Nature Genet., 29 (2001), pp. 301-305
[47.]
J. Feldman, A.M. Prieur, P. Quartier, P. Berquin, S. Certain, E. Cortis, 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., 71 (2002), pp. 198-203
[48.]
J.P.Y. Ting, D.L. Kastner, H.M. Hoffman.
CATERPILLERs, pyrin and hereditary immunological disorders.
Nat Rev Immunol., 6 (2006), pp. 183-195
[49.]
P.N. Hawkins, H.J. Lachmann, M.F. McDermott.
Interleukin-1-receptor antagonist in the Muckle-Wells syndrome.
N Engl J Med., 348 (2003), pp. 2583-2584
[50.]
H.M. Hoffman, S. Rosengren, D.L. Boyle, J.Y. Cho, J. Nayar, J.L. Mueller, et al.
Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist.
Lancet., 364 (2004), pp. 1779-1785
[51.]
E. Ramos, J.I. Arostegui, S. Campuzano, J. Rius, C. Bousoño, J. Yague.
Positive clinical and biochemical responses to anakinraina 3-yr-old patient with cryopyrin-associated periodic syndrome (CAPS).
Rheumatology., 44 (2005), pp. 1072-1073
[52.]
R. Goldbach-Mansky, N.J. Dailey, S.W. Canna, A. Gelabert, J. Jones, B.I. Rubin, et al.
Neonatal-onset multisystem inflammatory disease responsive to interleukin-1b inhibition.
N Engl J Med., 355 (2006), pp. 581-592
[53.]
H.M. Hoffman, M.L. Throne, N.J. Amar, M. Sebai, A.J. Kivitz, A. Kavanaugh, et al.
Efficacy and safety of rilonacept (interleukin-1 Trap) in patients with cryopyrin-associated periodic syndromes: results from two sequential placebo-controlled studies.
Arthritis Rheum., 58 (2008), pp. 2443-2452
[54.]
R. Goldbach-Mansky, S.D. Shroff, M. Wilson, C. Snyder, S. Plenh, B. Barham, et al.
A pilot study to evaluate the safety and efficacy of the long-acting interleukin-1 inhibitor rilonacept (interleukin-1 Trap) in patients with familial cold autoinflammatory syndrome.
Arthritis Rheum., 58 (2008), pp. 2432-2442
[55.]
A.F. North Jr., C.W. Fink, W.M. Gibson, J.E. Levinson, S.L. Schuchter, W.K. Howard, et al.
Sarcoid arthritis in children.
Am J Med., 48 (1970), pp. 449-455
[56.]
J. Gluck, J.J. Miller 3rd, W.T. Summerlin.
Sarcoidosis in a young child.
J Pediatr., 81 (1972), pp. 354-357
[57.]
E.B. Blau.
Familial granulomatous arthritis, iritis, and rash.
J Pediatr., 107 (1985), pp. 689-693
[58.]
D.A. Jabs, J.L. Houk, W.B. Bias, F.C. Arnett.
Familial granulomatous synovitis, uveitis, and cranial neuropathies.
Am J Med., 78 (1985), pp. 801-804
[59.]
J.J. Miller 3rd..
Early-onset “sarcoidosis” and “familial granulomatous arthritis (arteritis)”: the same disease.
J Pediatr., 109 (1986), pp. 387-388
[60.]
N. Kanazawa, I. Okafuji, N. Kambe, R. Nishikomori, M. Nakata-Hizume, S. Nagai, et al.
Earlyonset sarcoidosis and CARD15 mutations with constitutive enuclear factor-kappaB activation: common genetic etiology with Blau syndrome.
Blood., 105 (2005), pp. 1195-1197
[61.]
C.D. Rose, C.H. Wouters, S. Meiorin, T.M. Doyle, M.P. Davey, J.T. Rosenbaum, et al.
Pediatric granulomatous arthritis. An international registry.
Arthritis Rheum., 54 (2006), pp. 3337-3344
[62.]
J.I. Aróstegui, C. Arnal, R. Merino, C. Modesto, M.A. Carballo, P. Moreno, et al.
NOD2 gene-associated Pediatric granulomatous arthritis. Clinical diversity, novel and recurrent mutations and evidence of clinical improvement with interleukin-1 blockade in a Spanish cohort.
Arthritis Rheum., 56 (2007), pp. 3805-3813
[63.]
C. Miceli-Richard, S. Lesage, M. Rybojad, A.M. Prieur, S. Manouvrier-Hanu, R. Hafner, et al.
CARD15 mutations in Blau syndrome.
Nat Genet., 29 (2001), pp. 19-20
[64.]
N. Inohara, G. Nunez.
NODs: intracellular proteins involved in inflammation and apoptosis.
Nature Rev Immunol., 3 (2003), pp. 371-382
[65.]
R. Priori, M. Bombardieri, F.R. Spinelli, F. Merlin, C. Miceli-Richard, M. La Cava, et al.
Sporadic Blau syndrome with a double CARD15 mutation. Report of a case with lifelong follow-up.
Sarcoidosis Vasc Diffuse Lung Dis., 21 (2004), pp. 228-231
[66.]
C.D. Rose, T.M. Doyle, G. McIlvain-Simpson, J.E. Coffman, J.T. Rosenbaum, M.P. Davey, et al.
Blau syndrome mutation of CARD15/NOD2 in sporadic early onset granulomatous arthritis.
J Rheumatol., 32 (2005), pp. 335-373
[67.]
N.M. Lindor, T.M. Arsenault, H. Solomon, C.E. Seidman, M.T. McEvoy.
A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome.
Mayo Clin Proc., 72 (1997), pp. 611-615
[68.]
C.A. Wise, L.B. Bennett, V. Pascual, J.D. Gillum, A.M. Bowcock.
Localization of a gene for familial recurrent arthritis.
Arthritis Rheum., 43 (2000), pp. 2041-2045
[69.]
C.A. Wise, J.D. Gillum, C.E. Seidman, N.M. Lindor, R. Veile, S. Bashiardes, et al.
Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder.
Hum Mol Genet., 11 (2002), pp. 961-969
[70.]
N.G. Shoham, M. Centola, E. Mansfield, K.M. Hull, G. Word, C.A. Wise, et al.
Pyrin binds the PSTPIP1-CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway.
PNAS., 100 (2003), pp. 13501-13506
[71.]
M.P. Dierselhuis, J. Frenkel, N.M. Wullfraat, J.J. Boelens.
Anakinra for flares of pyogenic arthritis in PAPA syndrome.
Rheumatology., 44 (2005), pp. 406-408
[72.]
D.S. Stichweh, M. Punaro, V. Pascual.
Dramatic improvement of pyoderma gangrenosum with infliximab in a patient with PAPA syndrome.
Pediatr Dermatol., 22 (2005), pp. 262-265
[73.]
E. Cortis, F. De Benedetti, A. Insalaco, S. Cioschi, F. Muratori, L.E. D’Urbano, et al.
Abnormal production of tumor necrosis factor (TNF)−alpha and clinical efficacy of the TNF inhibitor etanercept in a patient with PAPA syndrome.
J Pediatr., 145 (2004), pp. 851-855
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