The autoinflammatory diseases: a fashion with blurred boundaries!
Tóm tắt
Monogenic autoinflammatory diseases are defined as a group of conditions with a clinical and biological inflammatory syndrome but little or no evidence of autoimmunity. Over 17 years have passed since the discovery of the first autoinflammatory gene, MEFV, responsible for familial Mediterranean fever. Substantive progress has been made since then, highlighting the key role of the inflammasome in the maintenance of the cell homeostasis but also unravelling new pathophysiological pathways involved in these diseases. The history of autoinflammatory gene discovery demonstrates the powerfulness of next-generation sequencing approaches in linking inflammatory disorders with various overlapping phenotypes. It can be easily anticipated that new genes will be exponentially identified in the coming years. Integrating these new concepts should help to promote personalized patient care through novel therapeutic opportunities.
Tài liệu tham khảo
Klein I, Naor D (1988) Autoinflammatory response to self-antigens of lymphoblasts. Isr J Med Sci 24:373–375
McDermott MF, Aksentijevich I, Galon J et al (1999) 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
Milhavet F, Cuisset L, Hoffman HM et al (2008) The infevers autoinflammatory mutation online registry: update with new genes and functions. Hum Mutat 29:803–808
Sarrauste de Menthiere C, Terriere S, Pugnere D, Ruiz M, Demaille J, Touitou I (2003) INFEVERS: the registry for FMF and hereditary inflammatory disorders mutations. Nucleic Acids Res 31:282–285
Touitou I, Lesage S, McDermott M et al (2004) Infevers: an evolving mutation database for auto-inflammatory syndromes. Hum Mutat 24:194–198
Ombrello MJ, Remmers EF, Sun G et al (2012) Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions. N Engl J Med 366:330–338
Zhou Q, Lee GS, Brady J et al (2012) A hypermorphic missense mutation in PLCG2, encoding phospholipase Cgamma2, causes a dominantly inherited autoinflammatory disease with immunodeficiency. Am J Hum Genet 91:713–720
McGonagle D, Aziz A, Dickie LJ, McDermott MF (2009) An integrated classification of pediatric inflammatory diseases, based on the concepts of autoinflammation and the immunological disease continuum. Pediatr Res 65:38R–45R
Canna SW, de Jesus AA, Gouni S et al (2014) An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome. Nat Genet 46:1140–1146
Romberg N, Al Moussawi K, Nelson-Williams C et al (2014) Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation. Nat Genet 46:1135–1139
Martinon F, Burns K, Tschopp J (2002) The inflammasome: a molecular platform triggering activation of inflammatory caspases and processing of proIL-beta. Mol Cell 10:417–426
Feldmann J, Prieur AM, Quartier P et al (2002) 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 71:198–203
Hoffman HM, Mueller JL, Broide DH, Wanderer AA, Kolodner RD (2001) 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
Lachmann HJ, Kone-Paut I, Kuemmerle-Deschner JB et al (2009) Use of canakinumab in the cryopyrin-associated periodic syndrome. N Engl J Med 360:2416–2425
Simon A, van Deuren M, Tighe PJ, van der Meer JW, Drenth JP (2001) Genetic analysis as a valuable key to diagnosis and treatment of periodic fever. Arch Intern Med 161:2491–2493
Federici S, Calcagno G, Finetti M et al (2012) Clinical impact of MEFV mutations in children with periodic fever in a prevalent western European Caucasian population. Ann Rheum Dis 71:1961–1965
Hentgen V, Grateau G, Stankovic-Stojanovic K, Amselem S, Jeru I (2013) Familial Mediterranean fever in heterozygotes: are we able to accurately diagnose the disease in very young children? Arthritis Rheum 65:1654–1662
Ter Haar N, Lachmann H, Ozen S et al (2012) Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review. Ann Rheum Dis 72:678–685
Haas D, Hoffmann GF (2006) Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome. Orphanet J Rare Dis 1:13
Siemiatkowska AM, van den Born LI, van Hagen PM et al (2013) Mutations in the mevalonate kinase (MVK) gene cause nonsyndromic retinitis pigmentosa. Ophthalmology 120:2697–2705
Zhang SQ, Jiang T, Li M et al (2012) Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis. Nat Genet 44:1156–1160
de Koning HD, van Gijn ME, Stoffels M et al (2014) Myeloid lineage-restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome. J Allergy Clin Immunol 135:561–564
Aksentijevich I, Kastner DL (2011) Genetics of monogenic autoinflammatory diseases: past successes, future challenges. Nat Rev Rheumatol 7:469–478
Liu Y, Jesus AA, Marrero B et al (2014) Activated STING in a vascular and pulmonary syndrome. N Engl J Med 371:507–518