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Syndromes auto-inflammatoires - 04/02/08

[14-210-A-20] - Doi : 10.1016/S0246-0521(08)50230-0

C. Masson ^⁎ : Praticien hospitalier, B. Bouvard : Praticien contractuel, M. Audran : Professeur, chef du service de rhumatologie, coordonnateur du pôle ostéoarticulaire
Service de rhumatologie, pôle ostéoarticulaire, Centre hospitalier universitaire, 49933 Angers cedex 9, France

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Résumé

Les maladies ou syndromes auto-inflammatoires comprennent la maladie périodique ou fièvre méditerranéenne familiale, le mévalonate associated periodic syndrome (MAPS) appelé classiquement syndrome d'hyperimmunoglobulinémie D (hyper-IgD), le tumor necrosis factor receptor associated periodic syndrome (TRAPS) et ses syndromes apparentés, et les cryopyrin associated periodic syndromes (CAPS) incluant l'urticaire au froid familiale, le syndrome de Muckle et Wells et l'entité neonatal onset multisystem inflammatory disease (NOMID) appelée encore chronic infantile neurologic cutaneous and articular (CINCA). Le but de cet article est de donner une vision globale de l'ensemble de ces entités, en insistant davantage sur le TRAPS et ses formes apparentées.

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Mots clés : Maladie auto-inflammatoire, Maladie périodique, Syndrome hyper-IgD, TRAPS, CAPS, Syndrome de Muckle et Wells, Urticaire au froid familiale, NOMID, CINCA

Esquema

Introduction^{[Kastner D.L., Aksentijevich I. Intermittent and periodic arthritis syndromes Arthritis and allied conditions Philadelphia: Lippincott-Williams and Wilkins (2005).
1411-1461

, Masson C. Rhumatismes intermittents. EMC (Elsevier Masson SAS, Paris), Appareil locomoteur, 14-210-A-10, 2007.

, Masson C., Simon V., Hoppé E., Insalaco P., Cissé I., Audran M. Tumor necrosis factor receptor-associated periodic syndrome (TRAPS): definition, semiology, prognosis, pathogenesis, treatment, and place relative to other periodic joint diseases Joint Bone Spine 2004 ; 71 : 284-290

, Masson C., Amoura Z., Berthelot J.M. Pathologies associées aux mutations du gène du récepteur de type 1 du TNF: syndromes TRAPS (Tumor necrosis factor-Receptor-Associated Periodic Syndrome) Maladies systémiques Paris: Flammarion (2007).

]}

Maladie périodique (fièvre méditerranéenne familiale)^{[Drenth J.P., Van Der Meer J.W. Hereditary periodic fever N. Engl. J. Med. 2001 ; 345 : 1748-1749

, Sarrauste de Menthiere C., Terriere S., Pugnere D., Ruiz M., Demaille J., Touitou I. INFEVERS: the registry for FMF and hereditary inflammatory disorders mutations Nucleic Acids Res. 2003 ; 31 : 282-285

, Touitou I., Lesage S., McDermott M., Cuisset L., Hoffman H., Dode C., y al. Infevers: an evolving mutation database for auto-inflammatory syndromes Hum. Mutat. 2004 ; 24 : 194-198

, Federici L., Rittore-Domingo C., Kone-Paut I., Jorgensen C., Rodiere M., Le Quellec A., y al. A decision tree for genetic diagnosis of hereditary periodic fevers in unselected patients Ann. Rheum. Dis. 2006 ; 65 : 1427-1432

, Pouchot J., Vinceneux P., Grateau G., Mery J.P. Le gène de la maladie périodique (fièvre méditerranéenne) est identifié Rev. Rhum. Mal. Osteoartic. 1998 ; 65 : 237-239

, Samuels J., Aksentijevich I., Torosyan Y., Centola M., Deng Z., Sood R., y al. Familial mediterranean fever at the millenium. Clinical spectrum, ancient mutations, and a survey of 100 American referrals to the National Institutes of Health Medicine 1998 ; 77 : 268-297

, Vinceneux P., Pouchot J., Méry J.P. Maladie périodique (fièvre méditerranéenne familiale) Maladies et syndromes systémiques Paris: Médecine-Sciences Flammarion (2000).
1137-1268

, Korkmaz C., Ozdogan H., Kasapcopur O., Yazici H. Acute phase response in familial Mediterranean fever Ann. Rheum. Dis. 2002 ; 61 : 79-81

, Lidar M., Kedem R., Levartovsky D., Langevitz P., Livneh A. Arthritis as the sole episodic manifestations of familial Mediterranean fever J. Rheumatol. 2005 ; 32 : 859-862

]}

MAPS ou syndrome hyper-IgD^{[Frenkel J., Houten S.M., Waterham H.R., Wanders R.J., Rijkers G.T., Kimpen J.L., y al. Mevalonate kinase deficiency and Dutch type periodic fever Clin. Exp. Rheumatol. 2000 ; 18 : 525-532

, Cuisset L., Drenth J.P., Simon A., Vincent M.F., van der Velde Visser S., van der Meer J.W., y al. Molecular analysis of MVK mutations and enzymatic activity in hyper-IgD and periodic fever syndrome Eur. J. Hum. Genet. 2001 ; 9 : 260-266

, Frenkel J., Houten S.M., Waterham H.R., Wanders R.J., Rijkers G.T., Duran M., y al. Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D. Rheumatol. 2001 ; 40 : 579-584

, De Dios Garcia-Diaz J., Alvarez-Blanco M.J. Glucocorticoids but not NSAID abort attacks in hyper-IgD and periodic fever syndrome J. Rheumatol. 2001 ; 28 : 925-926

, Simon A., Cuisset L., Vincent M.F., van Der Velde-Visser S.D., Delpech M., van Der Meer J.W., y al. Molecular analysis of the mevalonate kinase gene in a cohort of patients with the hyper-IgD and periodic fever syndrome: its application as a diagnosis tool Ann. Intern. Med. 2001 ; 135 : 338-343

, Arkwright P.D., McDermott M.F., Houten S.M., Frenkel J., Waterham H.R., Aganna E., y 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 : 484-488

, Stojanov S., Lohse P., Lohse P., Hoffmann F., Renner E.D., Zellerer S., y al. Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome. A low-penetrance TNFRSF1A variant in a heterozygous MVK carrier possibly influences the phenotype of hyperimmunoglobulinemia D with periodic fever syndrome or vice versa Arthritis Rheum. 2004 ; 50 : 1951-1958

]}

TRAPS et syndromes apparentés ()^{[Kastner D.L., Aksentijevich I. Intermittent and periodic arthritis syndromes Arthritis and allied conditions Philadelphia: Lippincott-Williams and Wilkins (2005).
1411-1461

, Masson C., Simon V., Hoppé E., Insalaco P., Cissé I., Audran M. Tumor necrosis factor receptor-associated periodic syndrome (TRAPS): definition, semiology, prognosis, pathogenesis, treatment, and place relative to other periodic joint diseases Joint Bone Spine 2004 ; 71 : 284-290

, Mc Dermott E.M., Smillie D.M., Powell R.J. Clinical spectrum of familial Hibernian fever: a 14-year follow-up study of the index case and extended family Mayo Clin. Proc. 1997 ; 72 : 806-817

, Mc Dermott M.F., Aksentijevich I., Galon J., McDermott E.M., Ogunkolade B.W., Centola M., y al. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFRSF1A, define a family of dominantly inherited autoinflammatory syndromes Cell 1999 ; 97 : 133-144

, Mc Dermott M. Fièvre récidivantes autosomiques dominantes. Aspects cliniques et génétiques Rev. Rhum. Mal. Osteoartic. 1999 ; 66 : 555-563

, Dode C., Papo T., Fieschi C., Pecheux C., Dion E., Picard F., y al. A novel missense mutation (C30S) in the gene encoding tumor necrosis factor receptor 1 linked to autosomal-dominant recurrent fever with localized myositis in a French family Arthritis Rheum. 2000 ; 43 : 1535-1542 3.0.CO;2-C">[cross-ref]}

, , , , ]

Description des accès douloureux du TRAPS^{[Kastner D.L., Aksentijevich I. Intermittent and periodic arthritis syndromes Arthritis and allied conditions Philadelphia: Lippincott-Williams and Wilkins (2005).
1411-1461

, Masson C., Simon V., Hoppé E., Insalaco P., Cissé I., Audran M. Tumor necrosis factor receptor-associated periodic syndrome (TRAPS): definition, semiology, prognosis, pathogenesis, treatment, and place relative to other periodic joint diseases Joint Bone Spine 2004 ; 71 : 284-290

, Masson C., Amoura Z., Berthelot J.M. Pathologies associées aux mutations du gène du récepteur de type 1 du TNF: syndromes TRAPS (Tumor necrosis factor-Receptor-Associated Periodic Syndrome) Maladies systémiques Paris: Flammarion (2007).

, Drenth J.P., Van Der Meer J.W. Hereditary periodic fever N. Engl. J. Med. 2001 ; 345 : 1748-1749

, Aganna E., Hammond L., Hawkins P.N., Aldea A., Mckee S.A., van Amstel H.K., y al. Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndromes phenotypes Arthritis Rheum. 2003 ; 48 : 2632-2644

]}

Anomalies biologiques du TRAPS^{[Masson C., Amoura Z., Berthelot J.M. Pathologies associées aux mutations du gène du récepteur de type 1 du TNF: syndromes TRAPS (Tumor necrosis factor-Receptor-Associated Periodic Syndrome) Maladies systémiques Paris: Flammarion (2007).

]}

Évolution et pronostic

Pathogénie du TRAPS^{[Masson C., Amoura Z., Berthelot J.M. Pathologies associées aux mutations du gène du récepteur de type 1 du TNF: syndromes TRAPS (Tumor necrosis factor-Receptor-Associated Periodic Syndrome) Maladies systémiques Paris: Flammarion (2007).

, Todd I., Radford P.M., Draper-Morgan K.A., McIntosh R., Bainbridge S., Dickinson P., y al. Mutant forms of tumour necrosis factor receptor I that occur in TNF-receptor-associated periodic syndrome retain signalling functions but show abnormal behaviour Immunology 2004 ; 113 : 65-79

, Huggins M.L., Radford P.M., McIntosh R.S., Bainbridge S.E., Dickinson P., Draper-Morgan K.A., y 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 : 2651-2659

, Kriegel M.A., Hüffmeier U., Scherb E., Scheidig C., Geiler T., Kalden J.R., y al. Tumor necrosis factor receptor-associated periodic syndrome characterized by a mutation affecting the cleavage site of the receptor: implication for pathogenesis Arthritis Rheum. 2003 ; 48 : 2386-2388

, Siebert S., Amos N., Fielding C.A., Wang E.C., Aksentijevich I., Williams B.D., y al. Reduced tumor necrosis factor signalling in primary human fibroblasts containing a tumor necrosis factor receptor superfamily 1A mutant Arthritis Rheum. 2005 ; 52 : 1287-1292

]}

Traitement des patients souffrant de TRAPS^{[Masson C., Amoura Z., Berthelot J.M. Pathologies associées aux mutations du gène du récepteur de type 1 du TNF: syndromes TRAPS (Tumor necrosis factor-Receptor-Associated Periodic Syndrome) Maladies systémiques Paris: Flammarion (2007).

, Drenth J.P., Van Der Meer J.W. Hereditary periodic fever N. Engl. J. Med. 2001 ; 345 : 1748-1749

, Drewe E., McDermott E.M., Powell P.T., Isaacs J.D., Powell R.J. 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 Rheumatol. 2003 ; 42 : 235-239

, Lamprecht P., Moosig F., Adam-Klages S., Mrowietz U., Csemok E., Kirrstetter M., y al. Small vessel vasculitis and relapsing panniculitis in tumour necrosis factor receptor associated periodic syndrome (TRAPS) Ann. Rheum. Dis. 2004 ; 63 : 1518-1520

, Arostegui J.I., Solis P., Aldea A., Cantero T., Rius J., Bahillo P., y 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. 2005 ; 164 : 13-16

, Drewe E., McDermott E.M., Powell R.J. Treatment of the nephrotic syndrome with etanercept in patients with the tumor necrosis factor receptor-associated periodic syndrome N. Engl. J. Med. 2000 ; 343 : 1044-1045

, Drewe E., Huggins M.L., Morgan A.G., Cassidy M.J., Powell R.J. Treatment of renal amyloidosis with etanercept in tumour necrosis factor receptor-associated periodic syndrome Rheumatol. 2004 ; 43 : 1405-1408

, Simon A., Bodar E.J., van der Hilst J.C., van der Meer J.W., Fiselier T.J., Cuppen M.P., y al. Beneficial response to interleukin 1 receptor antagonist in TRAPS Am. J. Med. 2004 ; 117 : 208-210

]}

Élargissement du concept TRAPS^{[Masson C., Amoura Z., Berthelot J.M. Pathologies associées aux mutations du gène du récepteur de type 1 du TNF: syndromes TRAPS (Tumor necrosis factor-Receptor-Associated Periodic Syndrome) Maladies systémiques Paris: Flammarion (2007).

, Federici L., Rittore-Domingo C., Kone-Paut I., Jorgensen C., Rodiere M., Le Quellec A., y al. A decision tree for genetic diagnosis of hereditary periodic fevers in unselected patients Ann. Rheum. Dis. 2006 ; 65 : 1427-1432

, Dode C., Andre M., Bienvenu T., Hausfater P., Pecheux C., Bienvenu C.J., y al. The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome Arthritis Rheum. 2002 ; 46 : 2181-2188

, Aksentijevich I., Gallon J., Soares M., Mansfield E., Hull K., Oh H.H., y al. The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further heterogeneity of periodic fevers Am. J. Hum. Genet. 2001 ; 69 : 301-314

, Hull K.M., Kastner D.L. Reply Arthritis Rheum. 2003 ; 48 : 1769-1770

, Drewe E., Lanyon P.C., Powell R.J. Emerging clinical spectrum of tumor necrosis factor receptor-associated periodic syndrome: comment on the articles by Hull, et al and Dodé, et al Arthritis Rheum. 2003 ; 48 : 1768-1769

, Trost S., Rosé C.D. Myocarditis and sacroiliitis: 2 previously unrecognized manifestations of tumor necrosis factor receptor associated periodic syndrome J. Rheumatol. 2005 ; 32 : 175-177

, Saulsbury F.T., Wispelwey B. Tumor necrosis factor receptor-associated periodic syndrome in a young adult who had features of periodic fever, aphthous stomatitis, pharyngitis, and adenitis as a child J. Pediatr. 2005 ; 146 : 283-285

, Ravet N., Rouaghe S., Dode C., Bienvenu J., Stirnemann J., Levy P., y al. Clinical significance of P46L and R92Q substitutions in the Tumor Necrosis Factor Superfamiliy 1A gene Ann. Rheum. Dis. 2006 ; 65 : 1158-1162

]}

Cryopyrinopathies ou cryopyrin associated periodic syndrome^{[Aksentijevich I., Nowak M., Mallah M., Chae J.J., Watford W.J., Hofmann S.R., y 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 : 3340-3348

, Cuisset L., Drenth J.P., Berthelot J.M., Meyrier A., Vaudour G., Watts R.A., y al. Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44 Am. J. Hum. Genet. 1999 ; 65 : 1054-1059

, Hentgen V., Despert V., Lepretre A.C., Cuisset L., Chevrant-Breton J., Jego P., y al. Intrafamilial variable phenotypic expression of a CIAS1 mutation: from Muckle-Wells to chronic infantile neurological cutaneous and articular syndrome J. Rheumatol. 2005 ; 32 : 747-751

, Hoffman H.M., Wright F.A., Broide D.H., Wanderer A.A., Kolodner R.D. Identification of a locus on chromosome 1q44 for familial cold urticaria Am. J. Hum. Genet. 2000 ; 65 : 1693-1698

, Hoffman H.M., Mueller J.L., Broide D.H., Wanderer A.A., Kolodner R.D. Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome Nat. Genet. 2001 ; 29 : 301-305

, Hoffman H.M., Wanderer A.A., Broide D.H. Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever J. Allergy Clin. Immunol. 2001 ; 108 : 615-620

, Hoffman H.M., Rosengren S., Boyle D.L., Cho J.Y., Nayar J., Mueller J.L., y al. Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist Lancet 2004 ; 364 : 1779-1785

, Stack J.H., Beaumont K., Larsen P.D., Straley K.S., Henkel G.W., Randle J.C., y al. IL-converting enzyme/caspase-1 inhibitor VX-765 blocks the hypersensitive response to an inflammatory stimulus in monocytes from familial cold autoinflammatory syndrome patients J. Immunol. 2005 ; 175 : 2630-2634

, Metyas S.K., Hoffman H.M. Anakinra prevents symptoms of familial cold autoinflammatory syndrome and Raynaud's disease J. Rheumatol. 2006 ; 33 : 2085-2087

, Lequerre T., Vittecoq O., Saugier-Veber P., Goldenberg A., Patoz P., Frebourg T., y al. A cryopyrin-associated periodic syndrome with joint destruction Rheumatol. 2007 ; 46 : 709-714

]}

Urticaire au froid familiale

Syndrome de Muckle et Wells

Implication de l'inflammasome dans les cryopyrinopathies^{[Drenth J.P., van der Meer J.W. The inflammasome- A linebacker of innate defense N. Engl. J. Med. 2006 ; 355 : 730-732

, Simon A., van der Meer J.W. Pathogenesis of familial periodic fever syndromes or hereditary autoinflammatory syndromes Am. J. Physiol. Regul. Integr. Comp. Physiol. 2007 ; 292 : R86-R98

, Martinon F., Petrilli V., Mayor A., Tardivel A., Tschopp J. Gout-associated uric acid crystal activate the NALP3 inflammasome Nature 2006 ; 440 : 237-241

]}

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