How should we approach classification of autoinflammatory diseases

Nature Reviews Rheumatology

Volumn 9, Issue 10, 2013, Pages 624-629

  Grateau, Gilles ^a   Hentgen, Véronique ^b   Stojanovic, Katia Stankovic ^a   Jéru, Isabelle ^c   Amselem, Serge ^c   Steichen, Olivier ^a  

^a ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^b CENTRE HOSPITALIER DE VERSAILLES   (France)

^c Assistance publique Hôpitaux de Paris   (France)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID A PROTEIN; BETA 2 MICROGLOBULIN; C REACTIVE PROTEIN; CRYOPYRIN; INTERLEUKIN 1BETA;

ACRODERMATITIS CONTINUA; ACUTE FEBRILE NEUTROPHILIC DERMATOSIS; ADAPTIVE IMMUNITY; ADULT ONSET STILL DISEASE; AMYLOIDOSIS; AUTOINFLAMMATORY DISEASE; BEHCET DISEASE; BLAU SYNDROME; CHRONIC NEUROLOGIC CUTANEOUS AND ARTICULAR SYNDROME; CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS; CROHN DISEASE; CYTOKINE PRODUCTION; DEFICIENCY OF THE IL 36 RECEPTOR ANTAGONIST; DISEASE CLASSIFICATION; ENTEROCOLITIS; FAMILIAL MEDITERRANEAN FEVER; GENE EXPRESSION; GOUT; HEMOPHAGOCYTIC SYNDROME; HUMAN; IMMUNE RESPONSE; IMMUNOPHENOTYPING; INNATE IMMUNITY; JUVENILE RHEUMATOID ARTHRITIS; MAJEED SYNDROME; MEVALONATE KINASE DEFICIENCY; MUCKLE WELLS SYNDROME; NEUTROPHIL COUNT; NEUTROPHILIC PANNICULITIS; NLRP12 ASSOCIATED DISEASEE; PATHOGENESIS; PRIORITY JOURNAL; PROTEASOME DISABILITY SYNDROME; PROTEIN BLOOD LEVEL; PROTEIN FUNCTION; PSEUDOGOUT; PYOGENIC ARTHRITIS WITH PYODERMA GANGRENOSUM AND ACNE; REVIEW; SCHNITZLER SYNDROME; SYNOVITIS ACNE PUSTULOSIS HYPEROSTOSIS OSTEITIS; TUMOR NECROSIS FACTOR RECEPTOR ASSOCIATED PERIODIC SYNDROME; URTICARIA;

AUTOIMMUNE DISEASES; HEREDITARY AUTOINFLAMMATORY DISEASES; HUMANS; IMMUNITY, INNATE; INFLAMMASOMES; INTERLEUKIN-1BETA; RHEUMATIC DISEASES; SIGNAL TRANSDUCTION;

EID: 84885308641     PISSN: 17594790     EISSN: 17594804     Source Type: Journal    
DOI: 10.1038/nrrheum.2013.101     Document Type: Review

References (24)

1. McDermott, M. F. 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, 133-144 (1999). (Pubitemid 29165896)
2. French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat. Genet. 17, 25-31 (1997).
3. International FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 90, 797-807 (1997).
4. McGonagle, D. & McDermott, M. F. A proposed classification of the immunological diseases. PLoS Med. 3, e297 (2006).
5. 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. 29, 301-305 (2001). (Pubitemid 33096455)
6. Martinon, F., Burns, K. & Tschopp, J. The inflammasome: a molecular platform triggering activation of inflammatory caspases and processing of proIL. Mol. Cell 10, 417-426 (2002). (Pubitemid 35007355)
7. Agostini, L. et al. NALP3 forms an IL-1-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. Immunity 20, 319-325 (2004). (Pubitemid 38388233)
8. Hawkins, P. N., Lachmann, H. J. & McDermott, M. F. Interleukin-1-receptor antagonist in the Muckle-Wells syndrome. N. Engl. J. Med. 348, 2583-2584 (2003).
9. Dinarello, C. A. Mutations in cryopyrin: bypassing roadblocks in the caspase 1 inflammasome for interleukin-1 secretion and disease activity. Arthritis Rheum. 56, 2817-2822 (2007). (Pubitemid 47502727)
10. de Koning, H. D., Schalkwijk, J., van der Meer, J. W. & Simon, A. Successful canakinumab treatment identifies IL-1 as a pivotal mediator in Schnitzler syndrome. J. Allergy Clin. Immunol. 128, 1352-1354 (2011).
11. Krause, K., Feist, E., Fiene, M., Kallinich, T. & Maurer, M. Complete remission in 3 of 3 anti-IL-6-treated patients with Schnitzler syndrome. J. Allergy Clin. Immunol. 129, 848-850 (2012).
12. Arima, K. et al. Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome. Proc. Natl Acad. Sci. USA 108, 14914-14919 (2011).
13. Dinarello, C. A. Blocking interleukin-1 in acute and chronic autoinflammatory diseases. J. Intern. Med. 269, 16-28 (2011).
14. Murphy, E. A. The Logic of Medicine. 122-126 (Johns Hopkins University Press, Baltimore, 1976).
15. Masters, S. L., Simon, A., Aksentijevich, I. & Kastner, D. L. Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease. Annu. Rev. Immunol. 27, 621-668 (2009).
16. Kastner, D. L., Aksentijevich, I. & Goldbach-Mansky, R. Autoinflammatory disease reloaded: a clinical perspective. Cell 140, 784-790 (2010).
17. Wittgenstein, L. Philosophical investigations (Blackwell, Oxford, 1953).
18. Verbsky, J. W. Monogenic causes of inflammatory disease in rheumatology. Curr. Opin. Rheumatol. 24, 506-514 (2012).
19. Boisson, B. et al. Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency. Nat. Immunol. 13, 1178-1186 (2012).
20. Ombrello, M. J. et al. Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions. N. Engl. J. Med. 366, 330-338 (2012).
21. Lachmann, H. J. et al. Natural history and outcome in systemic AA amyloidosis. N. Engl. J. Med. 356, 2361-2371 (2007). (Pubitemid 46883770)
22. Foucault, M. Les Mots et les Choses 17-29 (Gallimard, Paris, 1966).
23. Feramisco, J. D., Sadreyev, R. I., Murray, M. L., Grishin, N. V. & Tsao, H. Phenotypic and genotypic analyses of genetic skin disease through the Online Mendelian Inheritance in Man (OMIM) database. J. Invest. Dermatol. 129, 2628-2636 (2009).
24. Samarghitean, C., Ortutay, C. & Vihinen, M. Systematic classification of primary immunodeficiencies based on clinical, pathological, and laboratory parameters. J. Immunol. 183, 7569-7575 (2009).