What's new in autoinflammatory diseases?;Quoi de neuf dans les maladies auto-inflammatoires ?

Revue de Medecine Interne

Volumn 29, Issue 12, 2008, Pages 994-999

  Stankovic, K ^a   Grateau, G ^a  

^a HÔPITAL TENON   (France)

Author keywords

Autoinflammatory disorders; Cryopyrin; Hereditary recurrent fevers; Inflammasome; Interleukin 1; Nosology

Indexed keywords

CELL PROTEIN; GENE PRODUCT; INFLAMMASOME; INTERLEUKIN 1; MULTIPROTEIN COMPLEX; PROTEIN CRYOPYRIN; TUMOR NECROSIS FACTOR; TUMOR NECROSIS FACTOR RECEPTOR; UNCLASSIFIED DRUG;

AUTOINFLAMMATORY DISEASE; CINCA SYNDROME; CYTOKINE PRODUCTION; FAMILIAL COLD AUTOINFLAMMATORY SYNDROME; GENE MUTATION; HEREDITY; HUMAN; INNATE IMMUNITY; MUCKLE WELLS SYNDROME; RECURRENT FEVER; SHORT SURVEY;

ADULT; AUTOIMMUNE DISEASES; CARRIER PROTEINS; CHILD; FAMILIAL MEDITERRANEAN FEVER; HUMANS; INFLAMMATION; INTERLEUKIN-1; MUTATION; TUMOR NECROSIS FACTOR-ALPHA;

EID: 56549120131     PISSN: 02488663     EISSN: 17683122     Source Type: Journal    
DOI: 10.1016/j.revmed.2008.01.022     Document Type: Short Survey

References (36)

1. McDermott M.F., Aksentijevich I., Galon J., McDermott E.M., Ogunkolade B.W., Centola M., 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) 133-144
2. Lidar M., Yaqubov M., Zaks N., Ben-Horin S., Langevitz P., and Livneh A. The prodrome: a prominent yet overlooked pre-attack manifestation of familial Mediterranean fever. J Rheumatol 33 (2006) 1089-1092
3. B'chir Hamzaoui S., Bouslama K., Abdallah M., M'rad R., and M'rad S. Myalgies au cours d'une fièvre méditerranéenne familiale. Rev Neurol 163 (2007) 93-95
4. Belange G., Gompel H., Chaouat Y., and Chaouat D. Mesothéliome péritonéal malin survenant au cours d'une maladie périodique : à propos d'un cas. Rev Med Interne 19 (1998) 427-430
5. Hershcovici T., Chajek-Shaul T., Hasin T., Amar S., Hiller N., and Prus D. Familial Mediterranean fever and peritoneal malignant mesothelioma: a possible association?. Isr Med Assoc J 8 (2006) 509-511
6. Haas S.L., Lohse P., Schmitt W.H., Hildenbrand R., Karaorman M., Singer M.V., et al. Severe TNF receptor-associated periodic syndrome due to 2 TNFRSF1A mutations including a new F60V substitution. Gastroenterology 130 (2006) 172-178
7. Minden K., Aganna E., McDermott M.F., and Zink A. Tumor necrosis factor receptor associated periodic syndrome (TRAPS) with central nervous system involvement. Ann Rheum Dis 63 (2004) 1356-1357
8. Obici L., Manno C., Muda A.O., Picco P., D'Osualdo A., Palladini G., et al. First report of systemic reactive (AA) amyloidosis in a patient with the hyperimmunoglobulinemia D with periodic fever syndrome. Arthritis Rheum 50 (2004) 2966-2969
9. Kallinich T., Haffner D., Rudolph B., Schindler R., Canaan-Kühl S., Keitzer R., et al. "Periodic fever" without fever: two cases of non-febrile TRAPS with mutations in the TNFRSF1A gene presenting with episodes of inflammation or monosymptomatic amyloidosis. Ann Rheum Dis 65 (2006) 958-960
10. Lachmann H.J., Goodman H.J., Gilbertson J.A., Gallimore J.R., Sabin C.A., Gillmore J.D., et al. Natural history and outcome in systemic AA amyloidosis. N Engl J Med 356 (2007) 2361-2371
11. Cazeneuve C., Ajrapetyan H., Papin S., Roudot-Thoraval F., Genevieve D., Mndjoyan E., et al. Identification of MEFV-independent modifying genetic factors for familial Mediterranean fever. Am J Hum Genet 67 (2000) 1136-1143
12. Tchernitchko D., Moutereau S., Legendre M., Delahaye A., Cazeneuve C., Lacombe B., et al. MEFV analysis is of particularly weak diagnostic value for recurrent fevers in Western European Caucasian patients. Arthritis Rheum 52 (2005) 3603-3605
13. Ammouri W., Cuisset L., Rouaghe S., Rolland M.O., Delpech M., Grateau G., et al. Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome. Rheumatology 46 (2007) 1597-1600
14. Simon A., van der Meer J.W., Vesely R., Myrdal U., Yoshimura K., Duys P., et al. Approach to genetic analysis in the diagnosis of hereditary autoinflammatory syndromes. Rheumatology 45 (2006) 269-273
15. Ravet N., Rouaghe S., Dode C., Bienvenu J., Stirnemann J., Lévy P., Delpech M., and Grateau G. Clinical significance of P46L and R92Q substitutions in the tumor necrosis factor superfamily 1A gene. Ann Rheum Dis 65 (2006) 1158-1162
16. Goldbach-Mansky R., Dailey N.J., Canna S.W., Gelabert A., Jones J., Rubin B.I., et al. Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition. N Engl J Med 355 (2006) 581-592
17. Miceli-Richard C., Lesage S., Rybojad M., Prieur A.M., Manouvrier-Hanu S., Häfner R., et al. CARD15 mutations in Blau syndrome. Nat Genet 29 (2001) 19-20
18. Ferguson P.J., Chen S., Tayeh M.K., Ochoa L., Leas S.M., Pelet A., 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 42 (2005) 551-557
19. Wise C.A., Gillum J.D., Seidman C.E., Lindor N.M., Veile R., Bahsiardes S., et al. Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder. Hum Mol Genet 11 (2002) 961-969
20. Isidor B., Dagonneau N., Huber C., Genevive D., Bader-Meunier B., Blanche S., et al. A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33-34. Hum Genet 121 (2007) 269-273
21. Lobito A.A., Kimberley F.C., Muppidi J.R., Komarow H., Jackson A.J., Hull K.M., et al. Abnormal disulfide-linked oligomerization results in ER retention and altered signaling by TNFR1 mutants in the TNFR1 associated periodic fever syndrome (TRAPS). Blood 108 (2006) 1320-1327
22. Yousaf N., Gould D.J., Aganna E., Hammond L., Mirakian R.M., Turner M.D., et al. Tumor necrosis factor receptor I from patients with tumor necrosis factor receptor-associated periodic syndrome interacts with wild-type tumor necrosis factor receptor I and induces ligand-independent NF-kappaB activation. Arthritis Rheum 52 (2005) 2906-2916
23. Rebelo S.L., Bainbridge S.E., Amel-Kashipaz M.R., Radford P.M., Powell R.J., Todd I., et al. Modeling of tumor necrosis factor receptor superfamily 1A mutants associated with tumor necrosis factor receptor-associated periodic syndrome indicates misfolding consistent with abnormal function. Arthritis Rheum 54 (2006) 2674-2687
24. Drewe E., McDermott E.M., Powell P.T., Isaacs J.D., and 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. Rheumatology (Oxford) 42 (2003) 235-239
25. Jacobelli S., André M., Alexandra J.F., Dodé C., and Papo T. Failure of anti-TNF therapy in TNF receptor 1-associated periodic syndrome (TRAPS). Rheumatology (Oxford) 46 (2007) 1211-1212
26. Simon A., Bodar E.J., van der Hilst J.C., van der Meer J.W., Fiselier T.J., Cuppen M.P., et al. Beneficial response to interleukin 1 receptor antagonist in traps. Am J Med 117 (2004) 208-210
27. Pétrilli V., Dostert C., Muruve D.A., and Tschopp J. The inflammasome: a danger sensing complex triggering innate immunity. Curr Opin Immunol (2007) [Epub ahead of print]
28. Dinarello C.A. Mutations in cryopyrin: bypassing roadblocks in the caspase 1 inflammasome for interleukin-1beta secretion and disease activity. Arthritis Rheum 56 (2007) 2817-2822
29. Sidiropoulos P.I., Goulielmos G., Voloudakis G.K., Petraki E., and Boumpas D.T. Inflammasome and rheumatic diseases: evolving concepts. Ann Rheum Dis (2007) [Epub ahead of print]
30. Martinon F., Pétrilli V., Mayor A., Tardivel A., and Tschopp J. Gout-associated uric acid crystals activate the NALP3 inflammasome. Nature 440 (2006) 237-241
31. Hawkins P.N., Lachmann H.J., Aganna E., and McDermott M.F. Spectrum of clinical features in Mückle-Wells syndrome and response to anakinra. Arthritis Rheum 50 (2004) 607-612
32. Cailliez M., Garaix F., Rousset-Rouviere C., Bruno D., Kone-Paut I., Sarles J., et al. Anakinra is safe and effective in controlling hyperimmunoglobulinaemia D syndrome-associated febrile crisis. J Inherit Metab Dis 29 (2006) 763
33. Belkhir R., Moulonguet-Doleris L., Hachulla E., Prinseau J., Baglin A., and Hanslik T. Treatment of familial Mediterranean fever with anakinra. Ann Intern Med 146 (2007) 825-826
34. Lequerré T., Quartier P., Rosellini D., Alaoui F., De Bandt M., Mejjad O., et al. Interleukin-1 receptor antagonist (anakinra) treatment in patients with systemic-onset juvenile idiopathic arthritis or adult onset Still's disease. Preliminary experience in France. Ann Rheum Dis (2007) [Epub ahead of print]
35. Schneider S.W., Gaubitz M., Luger T.A., and Bonsman G. Prompt response of refractory Schnitzler syndrome to treatment with anakinra. J Am Acad Dermatol 56 Suppl. 5 (2007) S120-S122
36. McGonagle D., and McDermott M.F. A proposed classification of the immunological diseases. PLoS Med 3 8 (2006) e297