Top

Clinical Reviews in Allergy & Immunology

Published in:

01-06-2018

Geoepidemiology and Immunologic Features of Autoinflammatory Diseases: a Comprehensive Review

Authors: Yvan Jamilloux, Alexandre Belot, Flora Magnotti, Sarah Benezech, Mathieu Gerfaud-Valentin, Emilie Bourdonnay, Thierry Walzer, Pascal Sève, Thomas Henry

Published in: Clinical Reviews in Allergy & Immunology | Issue 3/2018

Abstract

The knowledge on systemic autoinflammatory disorders (SAID) is expanding rapidly and new signalling pathways are being decrypted. The concept of autoinflammation has been proposed since 1999, to define a group of diseases with abnormal innate immunity activation. Since then, more than 30 monogenic SAID have been described. In this review, we first describe inflammasomopathies and SAID related to the interleukin-1 pathway. Recent insights into the pathogenesis of familial Mediterranean fever and the function of Pyrin are detailed. In addition, complex or polygenic SAID, such as Still’s disease or PFAPA syndrome, are also discussed. Then, major players driving autoinflammation, such as type-1 interferonopathies (including the recently described haploinsuffiency in A20 and otulipenia), TNF-associated periodic syndromes, defects in ubiquitination, and SAID with overlapping features of autoimmunity or immunodeficiency. Discoveries of the pathogenic role of mosaicism, intronic defects coupled to the likelihood to identify digenic or polygenic diseases are providing new challenges for physicians and geneticists. This comprehensive review depicts the various SAID, presenting them according to their predominant pathophysiological mechanism, with a particular emphasis on recent findings. Epidemiologic data are also presented. Finally, we propose a practical diagnostic approach to the most common monogenic SAID, based on the most characteristic clinical presentation of these disorders.

French FMF Consortium (1997) A candidate gene for familial Mediterranean fever. Nat Genet 17:25–31. doi:10.1038/ng0997-25 CrossRef

The International FMF Consortium (1997) Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell 90:797–807

Xu H, Yang J, Gao W, Li L, Li P, Zhang L et al (2014) Innate immune sensing of bacterial modifications of Rho GTPases by the pyrin inflammasome. Nature 513:237–241. doi:10.1038/nature13449 PubMedCrossRef

McDermott MF, Aksentijevich I, Galon J, McDermott EM, Ogunkolade BW, Centola M 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 97:133–144PubMedCrossRef

Masters SL, Simon A, Aksentijevich I, Kastner DL (2009) Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*). Annu rev Immunol 27:621–668. doi:10.1146/annurev.immunol.25.022106.141627 PubMedPubMedCentralCrossRef

Martinon F, Pétrilli V, Mayor A, Tardivel A, Tschopp J (2006) Gout-associated uric acid crystals activate the NALP3 inflammasome. Nature 440:237–241. doi:10.1038/nature04516 PubMedCrossRef

McGonagle D, McDermott MF (2006) A proposed classification of the immunological diseases. PLoS med 3:e297. doi:10.1371/journal.pmed.0030297 PubMedPubMedCentralCrossRef

Peckham D, Scambler T, Savic S, McDermott MF (2017) The burgeoning field of innate immune-mediated disease and autoinflammation. J Pathol 241:123–139. doi:10.1002/path.4812 PubMedCrossRef

Dinarello CA (2009) Immunological and inflammatory functions of the interleukin-1 family. Annu Rev Immunol 27:519–550. doi:10.1146/annurev.immunol.021908.132612 PubMedCrossRef

10.

Martinon F, Burns K, Tschopp J (2002) The inflammasome: a molecular platform triggering activation of inflammatory caspases and processing of proIL-beta. Mol Cell 10:417–426PubMedCrossRef

11.

Heller H, Sohar E, Pras M (1961) Ethnic distribution and amyloidosis in familial Mediterranean fever (FMF). Pathol Microbiol (Basel) 24:718–723

12.

Cakır N, Pamuk ÖN, Derviş E, Imeryüz N, Uslu H, Benian Ö et al (2012) The prevalences of some rheumatic diseases in western Turkey: Havsa study. Rheumatol Int 32:895–908. doi:10.1007/s00296-010-1699-4 PubMedCrossRef

13.

Kisacik B, Yildirim B, Tasliyurt T, Ozyurt H, Ozyurt B, Yuce S et al (2009) Increased frequency of familial Mediterranean fever in northern Turkey: a population-based study. Rheumatol Int 29:1307–1309. doi:10.1007/s00296-009-0849-z PubMedCrossRef

14.

Sarkisian T, Ajrapetian H, Beglarian A, Shahsuvarian G, Egiazarian A (2008) Familial Mediterranean fever in Armenian population. Georgian Med News 156:105–111

15.

Samuels J, Aksentijevich I, Torosyan Y, Centola M, Deng Z, Sood R et al (1998) 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) 77:268–297CrossRef

16.

Deltas CC, Mean R, Rossou E, Costi C, Koupepidou P, Hadjiyanni I et al (2002) Familial Mediterranean fever (FMF) mutations occur frequently in the Greek-Cypriot population of Cyprus. Genet Test 6:15–21. doi:10.1089/109065702760093861 PubMedCrossRef

17.

La Regina M, Nucera G, Diaco M, Procopio A, Gasbarrini G, Notarnicola C et al (2003) Familial Mediterranean fever is no longer a rare disease in Italy. Eur J hum Genet EJHG 11:50–56. doi:10.1038/sj.ejhg.5200916 PubMedCrossRef

18.

Toplak N, Dolezalovà P, Constantin T, Sedivà A, Pašić S, Cižnar P et al (2010) Periodic fever syndromes in eastern and central European countries: results of a pediatric multinational survey. Pediatr Rheumatol Online J 8:29. doi:10.1186/1546-0096-8-29 PubMedPubMedCentralCrossRef

19.

Migita K, Izumi Y, Jiuchi Y, Iwanaga N, Kawahara C, Agematsu K et al (2016) Familial Mediterranean fever is no longer a rare disease in Japan. Arthritis res Ther 18:175. doi:10.1186/s13075-016-1071-5 PubMedPubMedCentralCrossRef

20.

Sohar E, Gafni J, Pras M, Heller H (1967) Familial Mediterranean fever. A survey of 470 cases and review of the literature. Am J med 43:227–253PubMedCrossRef

21.

Livneh A, Langevitz P, Zemer D, Zaks N, Kees S, Lidar T et al (1997) Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum 40:1879–1885. doi:10.1002/1529-0131(199710)40:10<1879::AID-ART23>3.0.CO;2-M PubMedCrossRef

22.

Berkun Y, Eisenstein EM (2014) Diagnostic criteria of familial Mediterranean fever. Autoimmun Rev 13:388–390. doi:10.1016/j.autrev.2014.01.045 PubMedCrossRef

23.

Federici S, Sormani MP, Ozen S, Lachmann HJ, Amaryan G, Woo P et al (2015) Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers. Ann Rheum Dis 74:799–805. doi:10.1136/annrheumdis-2014-206580 PubMedCrossRef

24.

Chae JJ, Cho Y-H, Lee G-S, Cheng J, Liu PP, Feigenbaum L et al (2011) Gain-of-function pyrin mutations induce NLRP3 protein-independent interleukin-1β activation and severe autoinflammation in mice. Immunity 34:755–768. doi:10.1016/j.immuni.2011.02.020 PubMedPubMedCentralCrossRef

25.

Booty MG, Chae JJ, Masters SL, Remmers EF, Barham B, Le JM et al (2009) Familial Mediterranean fever with a single MEFV mutation: where is the second hit? Arthritis Rheum 60:1851–1861. doi:10.1002/art.24569 PubMedPubMedCentralCrossRef

26.

Touitou I (2001) The spectrum of familial Mediterranean fever (FMF) mutations. Eur J hum Genet EJHG 9:473–483. doi:10.1038/sj.ejhg.5200658 PubMedCrossRef

27.

Tchernitchko DO, Gérard-Blanluet M, Legendre M, Cazeneuve C, Grateau G, Amselem S (2006) Intrafamilial segregation analysis of the p.E148Q MEFV allele in familial Mediterranean fever. Ann Rheum Dis 65:1154–1157. doi:10.1136/ard.2005.048124 PubMedPubMedCentralCrossRef

28.

Chae JJ, Komarow HD, Cheng J, Wood G, Raben N, Liu PP et al (2003) Targeted disruption of pyrin, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis. Mol Cell 11:591–604PubMedCrossRef

29.

Federici S, Calcagno G, Finetti M, Gallizzi R, Meini A, Vitale A 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. doi:10.1136/annrheumdis-2011-200977 PubMedCrossRef

30.

Omenetti A, Carta S, Delfino L, Martini A, Gattorno M, Rubartelli A (2014) Increased NLRP3-dependent interleukin 1β secretion in patients with familial Mediterranean fever: correlation with MEFV genotype. Ann Rheum Dis 73:462–469. doi:10.1136/annrheumdis-2012-202774 PubMedCrossRef

31.

Park YH, Wood G, Kastner DL, Chae JJ (2016) Pyrin inflammasome activation and RhoA signaling in the autoinflammatory diseases FMF and HIDS. Nat Immunol 17:914–921. doi:10.1038/ni.3457 PubMedPubMedCentralCrossRef

32.

Chae JJ, Wood G, Masters SL, Richard K, Park G, Smith BJ et al (2006) The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production. Proc Natl Acad Sci U S a 103:9982–9987. doi:10.1073/pnas.0602081103 PubMedPubMedCentralCrossRef

33.

Masters SL, Lagou V, Jéru I, Baker PJ, Van Eyck L, Parry DA et al (2016) Familial autoinflammation with neutrophilic dermatosis reveals a regulatory mechanism of pyrin activation. Sci Transl med 8:332ra45. doi:10.1126/scitranslmed.aaf1471 PubMedCrossRef

34.

Van Gorp H, Saavedra PHV, de Vasconcelos NM, Van Opdenbosch N, Vande Walle L, Matusiak M et al (2016) Familial Mediterranean fever mutations lift the obligatory requirement for microtubules in pyrin inflammasome activation. Proc Natl Acad Sci U S A 113:14384–14389. doi:10.1073/pnas.1613156113 PubMedPubMedCentralCrossRef

35.

Kim ML, Chae JJ, Park YH, De Nardo D, Stirzaker RA, Ko H-J et al (2015) Aberrant actin depolymerization triggers the pyrin inflammasome and autoinflammatory disease that is dependent on IL-18, not IL-1β. J Exp Med 212:927–938. doi:10.1084/jem.20142384 PubMedPubMedCentralCrossRef

36.

Gao W, Yang J, Liu W, Wang Y, Shao F (2016) Site-specific phosphorylation and microtubule dynamics control pyrin inflammasome activation. Proc Natl Acad Sci U S a 113:E4857–E4866. doi:10.1073/pnas.1601700113 PubMedPubMedCentralCrossRef

37.

Chung LK, Park YH, Zheng Y, Brodsky IE, Hearing P, Kastner DL et al (2016) The Yersinia virulence factor YopM hijacks host kinases to inhibit type III effector-triggered activation of the pyrin inflammasome. Cell Host Microbe 20:296–306. doi:10.1016/j.chom.2016.07.018 PubMedPubMedCentralCrossRef

38.

Ratner D, Orning MPA, Proulx MK, Wang D, Gavrilin MA, Wewers MD et al (2016) The Yersinia pestis effector YopM inhibits pyrin inflammasome activation. PLoS Pathog 12:e1006035. doi:10.1371/journal.ppat.1006035 PubMedPubMedCentralCrossRef

39.

Schaner P, Richards N, Wadhwa A, Aksentijevich I, Kastner D, Tucker P et al (2001) Episodic evolution of pyrin in primates: human mutations recapitulate ancestral amino acid states. Nat Genet 27:318–321. doi:10.1038/85893 PubMedCrossRef

40.

Houten SM, Kuis W, Duran M, de Koning TJ, van Royen-Kerkhof A, Romeijn GJ et al (1999) Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nat Genet 22:175–177. doi:10.1038/9691 PubMedCrossRef

41.

Gershoni-Baruch R, Brik R, Zacks N, Shinawi M, Lidar M, Livneh A (2003) The contribution of genotypes at the MEFV and SAA1 loci to amyloidosis and disease severity in patients with familial Mediterranean fever. Arthritis Rheum 48:1149–1155. doi:10.1002/art.10944 PubMedCrossRef

42.

Vuch J, Marcuzzi A, Bianco AM, Tommasini A, Zanin V, Crovella S (2013) Evolutionary hypothesis of the mevalonate kinase deficiency. Med Hypotheses 80:67–69. doi:10.1016/j.mehy.2012.10.016 PubMedCrossRef

43.

van der Hilst JCH, Bodar EJ, Barron KS, Frenkel J, Drenth JPH, van der Meer JWM et al (2008) Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome. Medicine (Baltimore) 87:301–310. doi:10.1097/MD.0b013e318190cfb7 CrossRef

44.

Zhang S (2016) Natural history of mevalonate kinase deficiency: a literature review. Pediatr Rheumatol Online J 14:30. doi:10.1186/s12969-016-0091-7 PubMedPubMedCentralCrossRef

45.

Lainka E, Neudorf U, Lohse P, Timmann C, Bielak M, Stojanov S et al (2012) Incidence and clinical features of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) and spectrum of mevalonate kinase (MVK) mutations in German children. Rheumatol Int 32:3253–3260. doi:10.1007/s00296-011-2180-8 PubMedCrossRef

46.

Prieur AM, Griscelli C (1983) Nosologic aspects of systemic forms of very early onset juvenile arthritis. Apropos of 17 cases. Ann Pediatr (Paris) 30:565–569

47.

Galeotti C, Georgin-Lavialle S, Sarrabay G, Touitou I, Koné-Paut I (2016) Mevalonate kinase deficiency in 2016. Rev Med Interne. doi:10.1016/j.revmed.2016.08.019

48.

Lindor NM, Arsenault TM, Solomon H, Seidman CE, McEvoy MT (1997) A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome. Mayo Clin Proc 72:611–615. doi:10.1016/S0025-6196(11)63565-9 PubMedCrossRef

49.

Yang H, Reinherz EL (2006) CD2BP1 modulates CD2-dependent T cell activation via linkage to protein tyrosine phosphatase (PTP)-PEST. J Immunol Baltim md 1950 176:5898–5907

50.

Braun-Falco M, Kovnerystyy O, Lohse P, Ruzicka T (2012) Pyoderma gangrenosum, acne, and suppurative hidradenitis (PASH)--a new autoinflammatory syndrome distinct from PAPA syndrome. J Am Acad Dermatol 66:409–415. doi:10.1016/j.jaad.2010.12.025 PubMedCrossRef

51.

Shoham NG, Centola M, Mansfield E, Hull KM, Wood G, Wise CA et al (2003) Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway. Proc Natl Acad Sci U S a 100:13501–13506. doi:10.1073/pnas.2135380100 PubMedPubMedCentralCrossRef

52.

Yu J-W, Fernandes-Alnemri T, Datta P, Wu J, Juliana C, Solorzano L et al (2007) Pyrin activates the ASC pyroptosome in response to engagement by autoinflammatory PSTPIP1 mutants. Mol Cell 28:214–227. doi:10.1016/j.molcel.2007.08.029 PubMedPubMedCentralCrossRef

53.

Holzinger D, Roth J (2016) Alarming consequences - autoinflammatory disease spectrum due to mutations in proline-serine-threonine phosphatase-interacting protein 1. Curr Opin Rheumatol 28:550–559. doi:10.1097/BOR.0000000000000314 PubMedCrossRef

54.

Holzinger D, Fassl SK, de Jager W, Lohse P, Röhrig UF, Gattorno M et al (2015) Single amino acid charge switch defines clinically distinct proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1)-associated inflammatory diseases. J Allergy Clin Immunol 136:1337–1345. doi:10.1016/j.jaci.2015.04.016 PubMedCrossRef

55.

Leuenberger M, Berner J, Di Lucca J, Fischer L, Kaparos N, Conrad C et al (2016) PASS syndrome: an IL-1-driven autoinflammatory disease. Dermatol Basel Switz 232:254–258. doi:10.1159/000443648 CrossRef

56.

Standing ASI, Malinova D, Hong Y, Record J, Moulding D, Blundell MP et al (2017) Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1. J Exp med 214:59–71. doi:10.1084/jem.20161228 PubMedPubMedCentralCrossRef

57.

Matzinger P (2002) The danger model: a renewed sense of self. Science 296:301–305. doi:10.1126/science.1071059 PubMedCrossRef

58.

Bergsbaken T, Fink SL, Cookson BT (2009) Pyroptosis: host cell death and inflammation. Nat rev Microbiol 7:99–109. doi:10.1038/nrmicro2070 PubMedPubMedCentralCrossRef

59.

Jamilloux Y, Henry T (2013) The inflammasomes: platforms of innate immunity. Médecine Sci MS 29:975–984. doi:10.1051/medsci/20132911013 PubMedCrossRef

60.

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. doi:10.1038/ng756 PubMedPubMedCentralCrossRef

61.

Mehr S, Allen R, Boros C, Adib N, Kakakios A, Turner PJ et al (2016) Cryopyrin-associated periodic syndrome in Australian children and adults: epidemiological, clinical and treatment characteristics. J Paediatr Child Health 52:889–895. doi:10.1111/jpc.13270 PubMedCrossRef

62.

Cuisset L, Jeru I, Dumont B, Fabre A, Cochet E, Le Bozec J et al (2011) Mutations in the autoinflammatory cryopyrin-associated periodic syndrome gene: epidemiological study and lessons from eight years of genetic analysis in France. Ann Rheum Dis 70:495–499. doi:10.1136/ard.2010.138420 PubMedCrossRef

63.

Lainka E, Neudorf U, Lohse P, Timmann C, Bielak M, Stojanov S et al (2010) Analysis of cryopyrin-associated periodic syndromes (CAPS) in German children: epidemiological, clinical and genetic characteristics. Klin Padiatr 222:356–361. doi:10.1055/s-0030-1265181 PubMedCrossRef

64.

Tanaka N, Izawa K, Saito MK, Sakuma M, Oshima K, Ohara O et al (2011) High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study. Arthritis Rheum 63:3625–3632. doi:10.1002/art.30512 PubMedPubMedCentralCrossRef

65.

Levy R, Gérard L, Kuemmerle-Deschner J, Lachmann HJ, Koné-Paut I, Cantarini L et al (2015) Phenotypic and genotypic characteristics of cryopyrin-associated periodic syndrome: a series of 136 patients from the Eurofever registry. Ann Rheum Dis 74:2043–2049. doi:10.1136/annrheumdis-2013-204991 PubMedCrossRef

66.

Rowczenio DM, Trojer H, Russell T, Baginska A, Lane T, Stewart NM et al (2013) Clinical characteristics in subjects with NLRP3 V198M diagnosed at a single UK center and a review of the literature. Arthritis res Ther 15:R30. doi:10.1186/ar4171 PubMedPubMedCentralCrossRef

67.

Goldbach-Mansky R, Dailey NJ, Canna SW, Gelabert A, Jones J, Rubin BI et al (2006) Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition. N Engl J Med 355:581–592. doi:10.1056/NEJMoa055137 PubMedPubMedCentralCrossRef

68.

Goldbach-Mansky R (2009) Blocking interleukin-1 in rheumatic diseases. Ann N Y Acad Sci 1182:111–123. doi:10.1111/j.1749-6632.2009.05159.x PubMedPubMedCentralCrossRef

69.

Tschopp J, Schroder K (2010) NLRP3 inflammasome activation: the convergence of multiple signalling pathways on ROS production? Nat Rev Immunol 10:210–215. doi:10.1038/nri2725 PubMedCrossRef

70.

Martinon F, Mayor A, Tschopp J (2009) The inflammasomes: guardians of the body. Annu rev Immunol 27:229–265. doi:10.1146/annurev.immunol.021908.132715 PubMedCrossRef

71.

Pétrilli V, Papin S, Dostert C, Mayor A, Martinon F, Tschopp J (2007) Activation of the NALP3 inflammasome is triggered by low intracellular potassium concentration. Cell Death Differ 14:1583–1589. doi:10.1038/sj.cdd.4402195 PubMedCrossRef

72.

Baroja-Mazo A, Martín-Sánchez F, Gomez AI, Martínez CM, Amores-Iniesta J, Compan V et al (2014) The NLRP3 inflammasome is released as a particulate danger signal that amplifies the inflammatory response. Nat Immunol 15:738–748. doi:10.1038/ni.2919 PubMedCrossRef

73.

Hoffman HM, Broderick L (2017) Editorial: it just takes one: somatic mosaicism in autoinflammatory disease. Arthritis Rheumatol Hoboken NJ 69:253–256. doi:10.1002/art.39961 CrossRef

74.

Nakagawa K, Gonzalez-Roca E, Souto A, Kawai T, Umebayashi H, Campistol JM et al (2015) Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes. Ann Rheum Dis 74:603–610. doi:10.1136/annrheumdis-2013-204361 PubMedCrossRef

75.

Canna SW, de Jesus AA, Gouni S, Brooks SR, Marrero B, Liu Y et al (2014) An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome. Nat Genet 46:1140–1146. doi:10.1038/ng.3089 PubMedPubMedCentralCrossRef

76.

Romberg N, Al Moussawi K, Nelson-Williams C, Stiegler AL, Loring E, Choi M et al (2014) Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation. Nat Genet 46:1135–1139. doi:10.1038/ng.3066 PubMedPubMedCentralCrossRef

77.

Volker-Touw CML, de Koning HD, Giltay JC, de Kovel CGF, van Kempen TS, Oberndorff KMEJ et al (2017) Erythematous nodes, urticarial rash and arthralgias in a large pedigree with NLRC4-related autoinflammatory disease, expansion of the phenotype. Br J Dermatol 176:244–248. doi:10.1111/bjd.14757 PubMedCrossRef

78.

Kitamura A, Sasaki Y, Abe T, Kano H, Yasutomo K (2014) An inherited mutation in NLRC4 causes autoinflammation in human and mice. J Exp Med 211:2385–2396. doi:10.1084/jem.20141091 PubMedPubMedCentralCrossRef

79.

Kawasaki Y, Oda H, Ito J, Niwa A, Tanaka T, Hijikata A et al (2017) Identification of a high-frequency somatic NLRC4 mutation as a cause of autoinflammation by pluripotent cell-based phenotype dissection. Arthritis Rheumatol Hoboken NJ 69:447–459. doi:10.1002/art.39960 CrossRef

80.

Canna SW, Girard C, Malle L, de Jesus A, Romberg N, Kelsen J et al (2016) Life-threatening NLRC4-associated hyperinflammation successfully treated with IL-18 inhibition. J Allergy Clin Immunol. doi:10.1016/j.jaci.2016.10.022

81.

Coers J, Vance RE, Fontana MF, Dietrich WF (2007) Restriction of Legionella pneumophila growth in macrophages requires the concerted action of cytokine and Naip5/Ipaf signalling pathways. Cell Microbiol 9:2344–2357. doi:10.1111/j.1462-5822.2007.00963.x PubMedCrossRef

82.

Yang J, Zhao Y, Shi J, Shao F (2013) Human NAIP and mouse NAIP1 recognize bacterial type III secretion needle protein for inflammasome activation. Proc Natl Acad Sci U S A 110:14408–14413. doi:10.1073/pnas.1306376110 PubMedPubMedCentralCrossRef

83.

Kortmann J, Brubaker SW, Monack DM (2015) Cutting edge: inflammasome activation in primary human macrophages is dependent on flagellin. J Immunol Baltim md 1950 195:815–819. doi:10.4049/jimmunol.1403100 CrossRef

84.

Raghawan AK, Sripada A, Gopinath G, Pushpanjali P, Kumar Y, Radha V et al (2017) A disease-associated mutant of NLRC4 shows enhanced interaction with SUG1 leading to constitutive FADD-dependent caspase-8 activation and cell death. J Biol Chem 292:1218–1230. doi:10.1074/jbc.M116.763979 PubMedCrossRef

85.

Zhong FL, Mamaï O, Sborgi L, Boussofara L, Hopkins R, Robinson K et al (2016) Germline NLRP1 mutations cause skin inflammatory and cancer susceptibility syndromes via inflammasome activation. Cell 167:187–202.e17. doi:10.1016/j.cell.2016.09.001 PubMedCrossRef

86.

Soler VJ, Tran-Viet K-N, Galiacy SD, Limviphuvadh V, Klemm TP, St Germain E et al (2013) Whole exome sequencing identifies a mutation for a novel form of corneal intraepithelial dyskeratosis. J Med Genet 50:246–254. doi:10.1136/jmedgenet-2012-101325 PubMedPubMedCentralCrossRef

87.

Grandemange S, Sanchez E, Louis-Plence P, Tran Mau-Them F, Bessis D, Coubes C et al (2016) A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis). Ann Rheum Dis. doi:10.1136/annrheumdis-2016-210021

88.

Masters SL, Gerlic M, Metcalf D, Preston S, Pellegrini M, O’Donnell JA et al (2012) NLRP1 inflammasome activation induces pyroptosis of hematopoietic progenitor cells. Immunity 37:1009–1023. doi:10.1016/j.immuni.2012.08.027 PubMedPubMedCentralCrossRef

89.

Jéru I, Duquesnoy P, Fernandes-Alnemri T, Cochet E, Yu JW, Lackmy-Port-Lis M et al (2008) Mutations in NALP12 cause hereditary periodic fever syndromes. Proc Natl Acad Sci U S A 105:1614–1619. doi:10.1073/pnas.0708616105 PubMedPubMedCentralCrossRef

90.

Borghini S, Tassi S, Chiesa S, Caroli F, Carta S, Caorsi R et al (2011) Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation. Arthritis Rheum 63:830–839. doi:10.1002/art.30170 PubMedPubMedCentralCrossRef

91.

Jéru I, Le Borgne G, Cochet E, Hayrapetyan H, Duquesnoy P, Grateau G et al (2011) Identification and functional consequences of a recurrent NLRP12 missense mutation in periodic fever syndromes. Arthritis Rheum 63:1459–1464. doi:10.1002/art.30241 PubMedCrossRef

92.

Vladimer GI, Weng D, Paquette SWM, Vanaja SK, Rathinam VAK, Aune MH et al (2012) The NLRP12 inflammasome recognizes Yersinia pestis. Immunity 37:96–107. doi:10.1016/j.immuni.2012.07.006 PubMedPubMedCentralCrossRef

93.

Miceli-Richard C, Lesage S, Rybojad M, Prieur AM, Manouvrier-Hanu S, Häfner R et al (2001) CARD15 mutations in Blau syndrome. Nat Genet 29:19–20. doi:10.1038/ng720 PubMedCrossRef

94.

Rosé CD, Pans S, Casteels I, Anton J, Bader-Meunier B, Brissaud P et al (2015) Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes. Rheumatol Oxf Engl 54:1008–1016. doi:10.1093/rheumatology/keu437 CrossRef

95.

Caso F, Costa L, Rigante D, Vitale A, Cimaz R, Lucherini OM et al (2014) Caveats and truths in genetic, clinical, autoimmune and autoinflammatory issues in Blau syndrome and early onset sarcoidosis. Autoimmun Rev 13:1220–1229. doi:10.1016/j.autrev.2014.08.010 PubMedCrossRef

96.

Kanazawa N, Okafuji I, Kambe N, Nishikomori R, Nakata-Hizume M, Nagai S et al (2005) Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome. Blood 105:1195–1197. doi:10.1182/blood-2004-07-2972 PubMedCrossRef

97.

Kobayashi K, Inohara N, Hernandez LD, Galán JE, Núñez G, Janeway CA et al (2002) RICK/Rip2/CARDIAK mediates signalling for receptors of the innate and adaptive immune systems. Nature 416:194–199. doi:10.1038/416194a PubMedCrossRef

98.

Magalhaes JG, Lee J, Geddes K, Rubino S, Philpott DJ, Girardin SE (2011) Essential role of Rip2 in the modulation of innate and adaptive immunity triggered by Nod1 and Nod2 ligands. Eur J Immunol 41:1445–1455. doi:10.1002/eji.201040827 PubMedCrossRef

99.

Aróstegui JI, Arnal C, Merino R, Modesto C, Antonia Carballo M, Moreno P et al (2007) 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 56:3805–3813. doi:10.1002/art.22966 PubMedCrossRef

100.

Majeed HA, Kalaawi M, Mohanty D, Teebi AS, Tunjekar MF, al-Gharbawy F et al (1989) Congenital dyserythropoietic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with sweet syndrome in two siblings. J Pediatr 115:730–734PubMedCrossRef

101.

Ferguson PJ, Chen S, Tayeh MK, Ochoa L, Leal SM, Pelet A et al (2005) Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). J Med Genet 42:551–557. doi:10.1136/jmg.2005.030759 PubMedPubMedCentralCrossRef

102.

Valdearcos M, Esquinas E, Meana C, Peña L, Gil-de-Gómez L, Balsinde J et al (2012) Lipin-2 reduces proinflammatory signaling induced by saturated fatty acids in macrophages. J Biol Chem 287:10894–10904. doi:10.1074/jbc.M112.342915 PubMedPubMedCentralCrossRef

103.

Herlin T, Fiirgaard B, Bjerre M, Kerndrup G, Hasle H, Bing X et al (2013) Efficacy of anti-IL-1 treatment in Majeed syndrome. Ann Rheum Dis 72:410–413. doi:10.1136/annrheumdis-2012-201818 PubMedCrossRef

104.

Aksentijevich I, Masters SL, Ferguson PJ, Dancey P, Frenkel J, van Royen-Kerkhoff A et al (2009) An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist. N Engl J med 360:2426–2437. doi:10.1056/NEJMoa0807865 PubMedPubMedCentralCrossRef

105.

Reddy S, Jia S, Geoffrey R, Lorier R, Suchi M, Broeckel U et al (2009) An autoinflammatory disease due to homozygous deletion of the IL1RN locus. N Engl J Med 360:2438–2444. doi:10.1056/NEJMoa0809568 PubMedPubMedCentralCrossRef

106.

Jesus AA, Osman M, Silva CA, Kim PW, Pham T-H, Gadina M et al (2011) A novel mutation of IL1RN in the deficiency of interleukin-1 receptor antagonist syndrome: description of two unrelated cases from Brazil. Arthritis Rheum 63:4007–4017. doi:10.1002/art.30588 PubMedPubMedCentralCrossRef

107.

Marrakchi S, Guigue P, Renshaw BR, Puel A, Pei X-Y, Fraitag S et al (2011) Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis. N Engl J Med 365:620–628. doi:10.1056/NEJMoa1013068 PubMedCrossRef

108.

Sugiura T, Kawaguchi Y, Harigai M, Terajima-Ichida H, Kitamura Y, Furuya T et al (2002) Association between adult-onset Still’s disease and interleukin-18 gene polymorphisms. Genes Immun 3:394–399. doi:10.1038/sj.gene.6363922 PubMedCrossRef

109.

Kanazawa N, Nakamura T, Mikita N, Furukawa F (2013) Novel IL36RN mutation in a Japanese case of early onset generalized pustular psoriasis. J Dermatol 40:749–751. doi:10.1111/1346-8138.12227 PubMedCrossRef

110.

Blumberg H, Dinh H, Trueblood ES, Pretorius J, Kugler D, Weng N et al (2007) Opposing activities of two novel members of the IL-1 ligand family regulate skin inflammation. J Exp Med 204:2603–2614. doi:10.1084/jem.20070157 PubMedPubMedCentralCrossRef

111.

Martini A (2012) Systemic juvenile idiopathic arthritis. Autoimmun Rev 12:56–59. doi:10.1016/j.autrev.2012.07.022 PubMedCrossRef

112.

Behrens EM, Beukelman T, Gallo L, Spangler J, Rosenkranz M, Arkachaisri T et al (2008) Evaluation of the presentation of systemic onset juvenile rheumatoid arthritis: data from the Pennsylvania Systemic Onset Juvenile Arthritis Registry (PASOJAR). J Rheumatol 35:343–348PubMed

113.

Feldman BM, Birdi N, Boone JE, Dent PB, Duffy CM, Ellsworth JE et al (1996) Seasonal onset of systemic-onset juvenile rheumatoid arthritis. J Pediatr 129:513–518PubMedCrossRef

114.

Modesto C, Antón J, Rodriguez B, Bou R, Arnal C, Ros J et al (2010) Incidence and prevalence of juvenile idiopathic arthritis in Catalonia (Spain). Scand J Rheumatol 39:472–479. doi:10.3109/03009741003742722 PubMedCrossRef

115.

Schneider R, Laxer RM (1998) Systemic onset juvenile rheumatoid arthritis. Baillieres Clin Rheumatol 12:245–271PubMedCrossRef

116.

Pruunsild C, Uibo K, Liivamägi H, Tarraste S, Talvik T, Pelkonen P (2007) Incidence of juvenile idiopathic arthritis in children in Estonia: a prospective population-based study. Scand J Rheumatol 36:7–13. doi:10.1080/03009740601089259 PubMedCrossRef

117.

Huemer C, Huemer M, Dorner T, Falger J, Schacherl H, Bernecker M et al (2001) Incidence of pediatric rheumatic diseases in a regional population in Austria. J Rheumatol 28:2116–2119PubMed

118.

Kaipiainen-Seppänen O, Savolainen A (2001) Changes in the incidence of juvenile rheumatoid arthritis in Finland. Rheumatol Oxf Engl 40:928–932CrossRef

119.

Pascual V, Allantaz F, Arce E, Punaro M, Banchereau J (2005) Role of interleukin-1 (IL-1) in the pathogenesis of systemic onset juvenile idiopathic arthritis and clinical response to IL-1 blockade. J Exp Med 201:1479–1486. doi:10.1084/jem.20050473 PubMedPubMedCentralCrossRef

120.

Jamilloux Y, Gerfaud-Valentin M, Martinon F, Belot A, Henry T, Sève P (2015) Pathogenesis of adult-onset Still’s disease: new insights from the juvenile counterpart. Immunol Res 61:53–62. doi:10.1007/s12026-014-8561-9 PubMedCrossRef

121.

Ombrello MJ, Remmers EF, Tachmazidou I, Grom A, Foell D, Haas J-P et al (2015) HLA-DRB1*11 and variants of the MHC class II locus are strong risk factors for systemic juvenile idiopathic arthritis. Proc Natl Acad Sci U S A 112:15970–15975. doi:10.1073/pnas.1520779112 PubMedPubMedCentralCrossRef

122.

Ombrello MJ, Arthur VL, Remmers EF, Hinks A, Tachmazidou I, Grom AA et al (2016) Genetic architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications. Ann Rheum dis. doi:10.1136/annrheumdis-2016-210324

123.

Wakil SM, Monies DM, Abouelhoda M, Al-Tassan N, Al-Dusery H, Naim EA et al (2015) Association of a mutation in LACC1 with a monogenic form of systemic juvenile idiopathic arthritis. Arthritis Rheumatol Hoboken NJ 67:288–295. doi:10.1002/art.38877 CrossRef

124.

Cader MZ, Boroviak K, Zhang Q, Assadi G, Kempster SL, Sewell GW et al (2016) C13orf31 (FAMIN) is a central regulator of immunometabolic function. Nat Immunol 17:1046–1056. doi:10.1038/ni.3532 PubMedCrossRef

125.

Gerfaud-Valentin M, Jamilloux Y, Iwaz J, Sève P (2014) Adult-onset Still’s disease. Autoimmun Rev 13:708–722. doi:10.1016/j.autrev.2014.01.058 PubMedCrossRef

126.

Gerfaud-Valentin M, Maucort-Boulch D, Hot A, Iwaz J, Ninet J, Durieu I et al (2014) Adult-onset still disease: manifestations, treatment, outcome, and prognostic factors in 57 patients. Medicine (Baltimore) 93:91–99. doi:10.1097/MD.0000000000000021 CrossRef

127.

Pouchot J, Sampalis JS, Beaudet F, Carette S, Decary F, Salusinsky-Sternbach M et al (1991) Adult Still’s disease: manifestations, disease course, and outcome in 62 patients. Medicine (Baltimore) 70:118–136CrossRef

128.

Ichiki H, Shishido M, Nishiyama S (1992) Two cases of adult onset of Still’s disease in the elderly. Nihon Ronen Igakkai Zasshi Jpn J Geriatr 29:960–964CrossRef

129.

Magadur-Joly G, Billaud E, Barrier JH, Pennec YL, Masson C, Renou P et al (1995) Epidemiology of adult Still’s disease: estimate of the incidence by a retrospective study in west France. Ann Rheum dis 54:587–590PubMedPubMedCentralCrossRef

130.

Wakai K, Ohta A, Tamakoshi A, Ohno Y, Kawamura T, Aoki R et al (1997) Estimated prevalence and incidence of adult Still’s disease: findings by a nationwide epidemiological survey in Japan. J Epidemiol 7:221–225PubMedCrossRef

131.

Evensen KJ, Nossent HC (2006) Epidemiology and outcome of adult-onset Still’s disease in northern Norway. Scand J Rheumatol 35:48–51. doi:10.1080/03009740510026616 PubMedCrossRef

132.

Chen D-Y, Lan J-L, Lin F-J, Hsieh T-Y (2005) Association of intercellular adhesion molecule-1 with clinical manifestations and interleukin-18 in patients with active, untreated adult-onset Still’s disease. Arthritis Rheum 53:320–327. doi:10.1002/art.21164 PubMedCrossRef

133.

Narula N, Narula T, Abril A (2015) Seizing the clinical presentation in adult onset Still’s disease. An extensive literature review. Autoimmun rev 14:472–477. doi:10.1016/j.autrev.2015.01.007 PubMedCrossRef

134.

Liozon E, Ly KH, Vidal-Cathala E, Fauchais A-L (2014) Adult-onset Still’s disease as a manifestation of malignancy: report of a patient with melanoma and literature review. Rev Médecine Interne Fondée par Société Natl Francaise Médecine Interne 35:60–64. doi:10.1016/j.revmed.2013.02.014 CrossRef

135.

Jamilloux Y, Gerfaud-Valentin M, Henry T, Sève P (2015) Treatment of adult-onset Still’s disease: a review. Ther Clin Risk Manag 11:33–43. doi:10.2147/TCRM.S64951 PubMedCrossRef

136.

Marshall GS, Edwards KM, Butler J, Lawton AR (1987) Syndrome of periodic fever, pharyngitis, and aphthous stomatitis. J Pediatr 110:43–46PubMedCrossRef

137.

Vigo G, Zulian F (2012) Periodic fevers with aphthous stomatitis, pharyngitis, and adenitis (PFAPA). Autoimmun Rev 12:52–55. doi:10.1016/j.autrev.2012.07.021 PubMedCrossRef

138.

Rigante D, Vitale A, Natale MF, Lopalco G, Andreozzi L, Frediani B et al (2017) A comprehensive comparison between pediatric and adult patients with periodic fever, aphthous stomatitis, pharyngitis, and cervical adenopathy (PFAPA) syndrome. Clin Rheumatol 36:463–468. doi:10.1007/s10067-016-3317-7 PubMedCrossRef

139.

Feder HM, Salazar JC (2010) A clinical review of 105 patients with PFAPA (a periodic fever syndrome). Acta Paediatr Oslo nor 1992 99:178–184. doi:10.1111/j.1651-2227.2009.01554.x CrossRef

140.

Førsvoll J, Kristoffersen EK, Øymar K (2013) Incidence, clinical characteristics and outcome in Norwegian children with periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome; a population-based study. Acta Paediatr Oslo nor 1992 102:187–192. doi:10.1111/apa.12069 CrossRef

141.

Hofer M, Pillet P, Cochard M-M, Berg S, Krol P, Kone-Paut I et al (2014) International periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis syndrome cohort: description of distinct phenotypes in 301 patients. Rheumatol Oxf Engl 53:1125–1129. doi:10.1093/rheumatology/ket460 CrossRef

142.

Theodoropoulou K, Vanoni F, Hofer M (2016) Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome: a review of the pathogenesis. Curr Rheumatol Rep 18:18. doi:10.1007/s11926-016-0567-y PubMedCrossRef

143.

Cheung MS, Theodoropoulou K, Lugrin J, Martinon F, Busso N, Hofer M (2017) Periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis syndrome is associated with a CARD8 variant unable to bind the NLRP3 inflammasome. J Immunol 198:2063–2069. doi:10.4049/jimmunol.1600760 PubMedCrossRef

144.

Stojanov S, Lapidus S, Chitkara P, Feder H, Salazar JC, Fleisher TA et al (2011) Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) is a disorder of innate immunity and Th1 activation responsive to IL-1 blockade. Proc Natl Acad Sci U S A 108:7148–7153. doi:10.1073/pnas.1103681108 PubMedPubMedCentralCrossRef

145.

Cochard M, Clet J, Le L, Pillet P, Onrubia X, Guéron T et al (2010) PFAPA syndrome is not a sporadic disease. Rheumatol Oxf Engl 49:1984–1987. doi:10.1093/rheumatology/keq187 CrossRef

146.

Perko D, Debeljak M, Toplak N, Avčin T (2015) Clinical features and genetic background of the periodic fever syndrome with aphthous stomatitis, pharyngitis, and adenitis: a single center longitudinal study of 81 patients. Mediat Inflamm 2015:293417. doi:10.1155/2015/293417 CrossRef

147.

Ter Haar N, Lachmann H, Özen S, Woo P, Uziel Y, Modesto C et al (2013) Treatment of autoinflammatory diseases: results from the Eurofever registry and a literature review. Ann Rheum Dis 72:678–685. doi:10.1136/annrheumdis-2011-201268 PubMedCrossRef

148.

Burton MJ, Pollard AJ, Ramsden JD, Chong LY, Venekamp RP (2014) Tonsillectomy for periodic fever, aphthous stomatitis, pharyngitis and cervical adenitis syndrome (PFAPA). Cochrane Database Syst Rev 11:CD008669. doi:10.1002/14651858.CD008669.pub2 CrossRef

149.

Vanoni F, Theodoropoulou K, Hofer M (2016) PFAPA syndrome: a review on treatment and outcome. Pediatr Rheumatol Online J 14. doi:10.1186/s12969-016-0101-9

150.

Schnitzler L, Schubert B, Verret JL, Simon L, Alquier P (1976) Cutaneous manifestations in disseminated intravascular coagulation syndrome. Ann Dermatol Syphiligr (Paris) 103:124–134

151.

Lipsker D (2010) The Schnitzler syndrome. Orphanet J Rare Dis 5:38. doi:10.1186/1750-1172-5-38 PubMedPubMedCentralCrossRef

152.

Simon A, Asli B, Braun-Falco M, De Koning H, Fermand J-P, Grattan C et al (2013) Schnitzler’s syndrome: diagnosis, treatment, and follow-up. Allergy 68:562–568. doi:10.1111/all.12129 PubMedCrossRef

153.

de Koning HD, Schalkwijk J, van der Meer JWM, Simon A (2011) Successful canakinumab treatment identifies IL-1β as a pivotal mediator in Schnitzler syndrome. J Allergy Clin Immunol 128:1352–1354. doi:10.1016/j.jaci.2011.05.023 PubMedCrossRef

154.

de Koning HD, Schalkwijk J, van der Ven-Jongekrijg J, Stoffels M, van der Meer JWM, Simon A (2013) Sustained efficacy of the monoclonal anti-interleukin-1 beta antibody canakinumab in a 9-month trial in Schnitzler’s syndrome. Ann Rheum Dis 72:1634–1638. doi:10.1136/annrheumdis-2012-202192 PubMedCrossRef

155.

de Koning HD, van Gijn ME, Stoffels M, Jongekrijg J, Zeeuwen PLJM, Elferink MG et al (2015) Myeloid lineage-restricted somatic mosaicism of NLRP3 mutations in patients with variant Schnitzler syndrome. J Allergy Clin Immunol 135:561–564. doi:10.1016/j.jaci.2014.07.050 PubMedCrossRef

156.

Zhou Q, Aksentijevich I, Wood GM, Walts AD, Hoffmann P, Remmers EF et al (2015) Brief report: cryopyrin-associated periodic syndrome caused by a myeloid-restricted somatic NLRP3 mutation. Arthritis Rheumatol Hoboken NJ 67:2482–2486. doi:10.1002/art.39190 CrossRef

157.

Crow YJ (2011) Type I interferonopathies: a novel set of inborn errors of immunity. Ann N Y Acad Sci 1238:91–98. doi:10.1111/j.1749-6632.2011.06220.x PubMedCrossRef

158.

Rodero MP, Crow YJ (2016) Type I interferon-mediated monogenic autoinflammation: the type I interferonopathies, a conceptual overview. J Exp med 213:2527–2538. doi:10.1084/jem.20161596 PubMedPubMedCentralCrossRef

159.

Picard C, Mathieu A-L, Hasan U, Henry T, Jamilloux Y, Walzer T et al (2015) Inherited anomalies of innate immune receptors in pediatric-onset inflammatory diseases. Autoimmun Rev 14:1147–1153. doi:10.1016/j.autrev.2015.08.002 PubMedCrossRef

160.

Picard C, Belot A (2016) Type I interferonopathies. Literature review. Rev Med Interne. doi:10.1016/j.revmed.2016.08.016

161.

Atianand MK, Fitzgerald KA (2013) Molecular basis of DNA recognition in the immune system. J Immunol Baltim md 1950 190:1911–1918. doi:10.4049/jimmunol.1203162 CrossRef

162.

Chen Q, Sun L, Chen ZJ (2016) Regulation and function of the cGAS-STING pathway of cytosolic DNA sensing. Nat Immunol 17:1142–1149. doi:10.1038/ni.3558 PubMedCrossRef

163.

Frémond M-L, Rodero MP, Jeremiah N, Belot A, Jeziorski E, Duffy D et al (2016) Efficacy of the Janus kinase 1/2 inhibitor ruxolitinib in the treatment of vasculopathy associated with TMEM173-activating mutations in 3 children. J Allergy Clin Immunol 138:1752–1755. doi:10.1016/j.jaci.2016.07.015 PubMedCrossRef

164.

Aicardi J, Goutières F (1984) A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis. Ann Neurol 15:49–54. doi:10.1002/ana.410150109 PubMedCrossRef

165.

Rice GI, del Toro Duany Y, Jenkinson EM, Forte GMA, Anderson BH, Ariaudo G et al (2014) Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling. Nat Genet 46:503–509. doi:10.1038/ng.2933 PubMedPubMedCentralCrossRef

166.

Liu Y, Jesus AA, Marrero B, Yang D, Ramsey SE, Montealegre Sanchez GA et al (2014) Activated STING in a vascular and pulmonary syndrome. N Engl J Med 371:507–518. doi:10.1056/NEJMoa1312625 PubMedPubMedCentralCrossRef

167.

Jeremiah N, Neven B, Gentili M, Callebaut I, Maschalidi S, Stolzenberg M-C et al (2014) Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations. J Clin Invest 124:5516–5520. doi:10.1172/JCI79100 PubMedPubMedCentralCrossRef

168.

Crow YJ, Casanova J-L (2014) STING-associated vasculopathy with onset in infancy—a new interferonopathy. N Engl J Med 371:568–571. doi:10.1056/NEJMe1407246 PubMedCrossRef

169.

Agarwal AK, Xing C, DeMartino GN, Mizrachi D, Hernandez MD, Sousa AB et al (2010) PSMB8 encoding the β5i proteasome subunit is mutated in joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy syndrome. Am J Hum Genet 87:866–872. doi:10.1016/j.ajhg.2010.10.031 PubMedPubMedCentralCrossRef

170.

Arima K, Kinoshita A, Mishima H, Kanazawa N, Kaneko T, Mizushima T et al (2011) Proteasome assembly defect due to a proteasome subunit beta type 8 (PSMB8) mutation causes the autoinflammatory disorder, Nakajo-Nishimura syndrome. Proc Natl Acad Sci U S A 108:14914–14919. doi:10.1073/pnas.1106015108 PubMedPubMedCentralCrossRef

171.

Kitamura A, Maekawa Y, Uehara H, Izumi K, Kawachi I, Nishizawa M et al (2011) A mutation in the immunoproteasome subunit PSMB8 causes autoinflammation and lipodystrophy in humans. J Clin Invest 121:4150–4160. doi:10.1172/JCI58414 PubMedPubMedCentralCrossRef

172.

Brehm A, Liu Y, Sheikh A, Marrero B, Omoyinmi E, Zhou Q et al (2015) Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production. J Clin Invest 125:4196–4211. doi:10.1172/JCI81260 PubMedPubMedCentralCrossRef

173.

Murarasu A, Dodé C, Sarrabay G, Klein I, Papo T, Sacré K (2017) Digenic MEFV/TNFRSF1A autoinflammatory syndrome with relapsing aseptic neutrophilic meningitis and chronic myelitis. Clin Exp Rheumatol

174.

Stoffels M, Kastner DL (2016) Old dogs, new tricks: monogenic autoinflammatory disease unleashed. Annu Rev Genomics Hum Genet 17:245–272. doi:10.1146/annurev-genom-090413-025334 PubMedCrossRef

175.

McDermott A, Jacks J, Kessler M, Emanuel PD, Gao L (2015) Proteasome-associated autoinflammatory syndromes: advances in pathogeneses, clinical presentations, diagnosis, and management. Int J Dermatol 54:121–129. doi:10.1111/ijd.12695 PubMedCrossRef

176.

Jang M-A, Kim EK, Now H, Nguyen NTH, Kim W-J, Yoo J-Y et al (2015) Mutations in DDX58, which encodes RIG-I, cause atypical Singleton-Merten syndrome. Am J Hum Genet 96:266–274. doi:10.1016/j.ajhg.2014.11.019 PubMedPubMedCentralCrossRef

177.

Briggs TA, Rice GI, Daly S, Urquhart J, Gornall H, Bader-Meunier B et al (2011) Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature. Nat Genet 43:127–131. doi:10.1038/ng.748 PubMedCrossRef

178.

Lausch E, Janecke A, Bros M, Trojandt S, Alanay Y, De Laet C et al (2011) Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity. Nat Genet 43:132–137. doi:10.1038/ng.749 PubMedCrossRef

179.

Briggs TA, Rice GI, Adib N, Ades L, Barete S, Baskar K et al (2016) Spondyloenchondrodysplasia due to mutations in ACP5: a comprehensive survey. J Clin Immunol 36:220–234. doi:10.1007/s10875-016-0252-y PubMedPubMedCentralCrossRef

180.

Starokadomskyy P, Gemelli T, Rios JJ, Xing C, Wang RC, Li H et al (2016) DNA polymerase-α regulates the activation of type I interferons through cytosolic RNA:DNA synthesis. Nat Immunol 17:495–504. doi:10.1038/ni.3409 PubMedPubMedCentralCrossRef

181.

Fernandez-Guarino M, Torrelo A, Fernandez-Lorente M, Fraile G, García-Sagredo JM, Jaén P (2008) X-linked reticulate pigmentary disorder: report of a new family. Eur J Dermatol EJD 18:102–103. doi:10.1684/ejd.2007.0336 PubMedCrossRef

182.

Bogunovic D, Byun M, Durfee LA, Abhyankar A, Sanal O, Mansouri D et al (2012) Mycobacterial disease and impaired IFN-γ immunity in humans with inherited ISG15 deficiency. Science 337:1684–1688. doi:10.1126/science.1224026 PubMedPubMedCentralCrossRef

183.

Zhang X, Bogunovic D, Payelle-Brogard B, Francois-Newton V, Speer SD, Yuan C et al (2015) Human intracellular ISG15 prevents interferon-α/β over-amplification and auto-inflammation. Nature 517:89–93. doi:10.1038/nature13801 PubMedCrossRef

184.

Meuwissen MEC, Schot R, Buta S, Oudesluijs G, Tinschert S, Speer SD et al (2016) Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome. J Exp Med 213:1163–1174. doi:10.1084/jem.20151529 PubMedPubMedCentralCrossRef

185.

Bulua AC, Mogul DB, Aksentijevich I, Singh H, He DY, Muenz LR et al (2012) Efficacy of etanercept in the tumor necrosis factor receptor-associated periodic syndrome: a prospective, open-label, dose-escalation study. Arthritis Rheum 64:908–913. doi:10.1002/art.33416 PubMedCrossRef

186.

Rebelo SL, Bainbridge SE, Amel-Kashipaz MR, Radford PM, Powell RJ, Todd I et al (2006) 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 54:2674–2687. doi:10.1002/art.21964 PubMedCrossRef

187.

Hull KM, Drewe E, Aksentijevich I, Singh HK, Wong K, McDermott EM et al (2002) The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder. Medicine (Baltimore) 81:349–368CrossRef

188.

Lainka E, Neudorf U, Lohse P, Timmann C, Stojanov S, Huss K et al (2009) Incidence of TNFRSF1A mutations in German children: epidemiological, clinical and genetic characteristics. Rheumatol Oxf Engl 48:987–991. doi:10.1093/rheumatology/kep140 CrossRef

189.

Gattorno M, Pelagatti MA, Meini A, Obici L, Barcellona R, Federici S et al (2008) Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum 58:1516–1520. doi:10.1002/art.23475 PubMedCrossRef

190.

Sacré K, Brihaye B, Lidove O, Papo T, Pocidalo M-A, Cuisset L et al (2008) Dramatic improvement following interleukin 1beta blockade in tumor necrosis factor receptor-1-associated syndrome (TRAPS) resistant to anti-TNF-alpha therapy. J Rheumatol 35:357–358PubMed

191.

Grimwood C, Despert V, Jeru I, Hentgen V (2015) On-demand treatment with anakinra: a treatment option for selected TRAPS patients. Rheumatol Oxf Engl 54:1749–1751. doi:10.1093/rheumatology/kev111 CrossRef

192.

Bulua AC, Simon A, Maddipati R, Pelletier M, Park H, Kim K-Y et al (2011) Mitochondrial reactive oxygen species promote production of proinflammatory cytokines and are elevated in TNFR1-associated periodic syndrome (TRAPS). J Exp Med 208:519–533. doi:10.1084/jem.20102049 PubMedPubMedCentralCrossRef

193.

Borghini S, Ferrera D, Prigione I, Fiore M, Ferraris C, Mirisola V et al (2016) Gene expression profile in TNF receptor-associated periodic syndrome reveals constitutively enhanced pathways and new players in the underlying inflammation. Clin Exp Rheumatol 34:S121–S128PubMed

194.

Jéru I, Cochet E, Duquesnoy P, Hentgen V, Copin B, Mitjavila-Garcia MT et al (2014) Brief report: involvement of TNFRSF11A molecular defects in autoinflammatory disorders. Arthritis Rheumatol Hoboken NJ 66:2621–2627. doi:10.1002/art.38727 CrossRef

195.

Blaydon DC, Biancheri P, Di W-L, Plagnol V, Cabral RM, Brooke MA et al (2011) Inflammatory skin and bowel disease linked to ADAM17 deletion. N Engl J med 365:1502–1508. doi:10.1056/NEJMoa1100721 PubMedCrossRef

196.

Hu H, Sun S-C (2016) Ubiquitin signaling in immune responses. Cell res 26:457–483. doi:10.1038/cr.2016.40 PubMedPubMedCentralCrossRef

197.

Cohen P (2014) Immune diseases caused by mutations in kinases and components of the ubiquitin system. Nat Immunol 15:521–529. doi:10.1038/ni.2892 PubMedPubMedCentralCrossRef

198.

Zhou Q, Wang H, Schwartz DM, Stoffels M, Park YH, Zhang Y et al (2016) Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early-onset autoinflammatory disease. Nat Genet 48:67–73. doi:10.1038/ng.3459 PubMedCrossRef

199.

Shigemura T, Kaneko N, Kobayashi N, Kobayashi K, Takeuchi Y, Nakano N et al (2016) Novel heterozygous C243Y A20/TNFAIP3 gene mutation is responsible for chronic inflammation in autosomal-dominant Behçet’s disease. RMD Open 2:e000223. doi:10.1136/rmdopen-2015-000223 PubMedPubMedCentralCrossRef

200.

Ohnishi H, Kawamoto N, Seishima M, Ohara O, Fukao T (2017) A Japanese family case with juvenile onset Behçet’s disease caused by TNFAIP3 mutation. Allergol Int Off J Jpn Soc Allergol 66:146–148. doi:10.1016/j.alit.2016.06.006 CrossRef

201.

Wertz IE, O’Rourke KM, Zhou H, Eby M, Aravind L, Seshagiri S et al (2004) De-ubiquitination and ubiquitin ligase domains of A20 downregulate NF-kappaB signalling. Nature 430:694–699. doi:10.1038/nature02794 PubMedCrossRef

202.

Vande Walle L, Van Opdenbosch N, Jacques P, Fossoul A, Verheugen E, Vogel P et al (2014) Negative regulation of the NLRP3 inflammasome by A20 protects against arthritis. Nature 512:69–73. doi:10.1038/nature13322 PubMedCrossRef

203.

Duong BH, Onizawa M, Oses-Prieto JA, Advincula R, Burlingame A, Malynn BA et al (2015) A20 restricts ubiquitination of pro-interleukin-1β protein complexes and suppresses NLRP3 inflammasome activity. Immunity 42:55–67. doi:10.1016/j.immuni.2014.12.031 PubMedPubMedCentralCrossRef

204.

Shimizu Y, Taraborrelli L, Walczak H (2015) Linear ubiquitination in immunity. Immunol Rev 266:190–207. doi:10.1111/imr.12309 PubMedPubMedCentralCrossRef

205.

Fiil BK, Gyrd-Hansen M (2014) Met1-linked ubiquitination in immune signalling. FEBS J 281:4337–4350. doi:10.1111/febs.12944 PubMedPubMedCentralCrossRef

206.

Elliott PR, Komander D (2016) Regulation of Met1-linked polyubiquitin signalling by the deubiquitinase OTULIN. FEBS J 283:39–53. doi:10.1111/febs.13547 PubMedCrossRef

207.

Zhou Q, Yu X, Demirkaya E, Deuitch N, Stone D, Tsai WL et al (2016) Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease. Proc Natl Acad Sci U S A 113:10127–10132. doi:10.1073/pnas.1612594113 PubMedPubMedCentralCrossRef

208.

Boisson B, Laplantine E, Prando C, Giliani S, Israelsson E, Xu Z et al (2012) Immunodeficiency, autoinflammation and amylopectinosis in humans with inherited HOIL-1 and LUBAC deficiency. Nat Immunol 13:1178–1186. doi:10.1038/ni.2457 PubMedPubMedCentralCrossRef

209.

Zhou Q, Yang D, Ombrello AK, Zavialov AV, Toro C, Zavialov AV et al (2014) Early-onset stroke and vasculopathy associated with mutations in ADA2. N Engl J Med 370:911–920. doi:10.1056/NEJMoa1307361 PubMedPubMedCentralCrossRef

210.

Navon Elkan P, Pierce SB, Segel R, Walsh T, Barash J, Padeh S et al (2014) Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med 370:921–931. doi:10.1056/NEJMoa1307362 PubMedCrossRef

211.

Ben-Ami T, Revel-Vilk S, Brooks R, Shaag A, Hershfield MS, Kelly SJ et al (2016) Extending the clinical phenotype of adenosine deaminase 2 deficiency. J Pediatr 177:316–320. doi:10.1016/j.jpeds.2016.06.058 PubMedCrossRef

212.

Zavialov AV, Gracia E, Glaichenhaus N, Franco R, Zavialov AV, Lauvau G (2010) Human adenosine deaminase 2 induces differentiation of monocytes into macrophages and stimulates proliferation of T helper cells and macrophages. J Leukoc Biol 88:279–290. doi:10.1189/jlb.1109764 PubMedCrossRef

213.

Ombrello MJ, Remmers EF, Sun G, Freeman AF, Datta S, Torabi-Parizi P et al (2012) Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions. N Engl J Med 366:330–338. doi:10.1056/NEJMoa1102140 PubMedPubMedCentralCrossRef

214.

Zhou Q, Lee G-S, Brady J, Datta S, Katan M, Sheikh A et al (2012) A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency. Am J Hum Genet 91:713–720. doi:10.1016/j.ajhg.2012.08.006 PubMedPubMedCentralCrossRef

215.

Chae JJ, Park YH, Park C, Hwang I-Y, Hoffmann P, Kehrl JH et al (2015) Connecting two pathways through Ca 2+ signaling: NLRP3 inflammasome activation induced by a hypermorphic PLCG2 mutation. Arthritis Rheumatol Hoboken NJ 67:563–567. doi:10.1002/art.38961 CrossRef

216.

Wiseman DH, May A, Jolles S, Connor P, Powell C, Heeney MM et al (2013) A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD). Blood 122:112–123. doi:10.1182/blood-2012-08-439083 PubMedPubMedCentralCrossRef

217.

Chakraborty PK, Schmitz-Abe K, Kennedy EK, Mamady H, Naas T, Durie D et al (2014) Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD). Blood 124:2867–2871. doi:10.1182/blood-2014-08-591370 PubMedPubMedCentralCrossRef

218.

Sasarman F, Thiffault I, Weraarpachai W, Salomon S, Maftei C, Gauthier J et al (2015) The 3′ addition of CCA to mitochondrial tRNASer(AGY) is specifically impaired in patients with mutations in the tRNA nucleotidyl transferase TRNT1. Hum Mol Genet 24:2841–2847. doi:10.1093/hmg/ddv044 PubMedPubMedCentralCrossRef

219.

Kaustio M, Haapaniemi E, Göös H, Hautala T, Park G, Syrjänen J et al (2017) Damaging heterozygous mutations in NFKB1 lead to diverse immunological phenotypes. J Allergy Clin Immunol. doi:10.1016/j.jaci.2016.10.054

220.

Schipp C, Nabhani S, Bienemann K, Simanovsky N, Kfir-Erenfeld S, Assayag-Asherie N et al (2016) Specific antibody deficiency and autoinflammatory disease extend the clinical and immunological spectrum of heterozygous NFKB1 loss-of-function mutations in humans. Haematologica 101:e392–e396. doi:10.3324/haematol.2016.145136 PubMedPubMedCentralCrossRef

221.

Molho-Pessach V, Lerer I, Abeliovich D, Agha Z, Abu Libdeh A, Broshtilova V et al (2008) The H syndrome is caused by mutations in the nucleoside transporter hENT3. Am J Hum Genet 83:529–534. doi:10.1016/j.ajhg.2008.09.013 PubMedPubMedCentralCrossRef

222.

Melki I, Lambot K, Jonard L, Couloigner V, Quartier P, Neven B et al (2013) Mutation in the SLC29A3 gene: a new cause of a monogenic, autoinflammatory condition. Pediatrics 131:e1308–e1313. doi:10.1542/peds.2012-2255 PubMedCrossRef

223.

Jordan CT, Cao L, Roberson EDO, Pierson KC, Yang C-F, Joyce CE et al (2012) PSORS2 is due to mutations in CARD14. Am J hum Genet 90:784–795. doi:10.1016/j.ajhg.2012.03.012 PubMedPubMedCentralCrossRef

224.

Fuchs-Telem D, Sarig O, van Steensel MAM, Isakov O, Israeli S, Nousbeck J et al (2012) Familial pityriasis rubra pilaris is caused by mutations in CARD14. Am J Hum Genet 91:163–170. doi:10.1016/j.ajhg.2012.05.010 PubMedPubMedCentralCrossRef

225.

Eytan O, Sarig O, Sprecher E, van Steensel MA (2014) Clinical response to ustekinumab in familial pityriasis rubra pilaris caused by a novel mutation in CARD14. Br J Dermatol 171:420–422. doi:10.1111/bjd.12952 PubMedCrossRef

226.

Setta-Kaffetzi N, Simpson MA, Navarini AA, Patel VM, Lu H-C, Allen MH et al (2014) AP1S3 mutations are associated with pustular psoriasis and impaired toll-like receptor 3 trafficking. Am J hum Genet 94:790–797. doi:10.1016/j.ajhg.2014.04.005 PubMedPubMedCentralCrossRef

227.

Mahil SK, Twelves S, Farkas K, Setta-Kaffetzi N, Burden AD, Gach JE et al (2016) AP1S3 mutations cause skin autoinflammation by disrupting keratinocyte autophagy and up-regulating IL-36 production. J Invest Dermatol 136:2251–2259. doi:10.1016/j.jid.2016.06.618 PubMedPubMedCentralCrossRef

228.

Gattorno M, Sormani MP, D’Osualdo A, Pelagatti MA, Caroli F, Federici S et al (2008) A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children. Arthritis Rheum 58:1823–1832. doi:10.1002/art.23474 PubMedCrossRef

229.

Federici S, Gattorno M (2014) A practical approach to the diagnosis of autoinflammatory diseases in childhood. Best Pract Res Clin Rheumatol 28:263–276. doi:10.1016/j.berh.2014.05.005 PubMedCrossRef

230.

Moghaddas F, Masters SL (2015) Monogenic autoinflammatory diseases: Cytokinopathies. Cytokine 74:237–246. doi:10.1016/j.cyto.2015.02.012 PubMedCrossRef

Title: Geoepidemiology and Immunologic Features of Autoinflammatory Diseases: a Comprehensive Review
Authors: Yvan Jamilloux
Alexandre Belot
Flora Magnotti
Sarah Benezech
Mathieu Gerfaud-Valentin
Emilie Bourdonnay
Thierry Walzer
Pascal Sève
Thomas Henry
Publication date: 01-06-2018
Publisher: Springer US
Published in: Clinical Reviews in Allergy & Immunology / Issue 3/2018
Print ISSN: 1080-0549
Electronic ISSN: 1559-0267
DOI: https://doi.org/10.1007/s12016-017-8613-8

ACC 2024 Congress Coverage

Cardiology Video

Highlights from the ACC 2024 Congress

Watch now

Watch official videos from the ACC congress summarizing key highlights from the last year in heart failure, cardiomyopathies, valvular disease, pulmonary vascular disease, and pediatric cardiology.

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

16-04-2024 Type 2 Diabetes News

Incentivised to exercise

11-04-2024 Lifestyle Modifications News

New intervention for STEMI-related cardiogenic shock

10-04-2024 Myocardial Infarction News

» View more highlights on the ACC 2024 congress hub page

Image Credits

ACC 2024 Pediatric and Congenital Heart Disease: Year in Review/© 2024 American College of Cardiology, ACC 2024 Pulmonary Vascular Disease: Year in Review/© 2024 American College of Cardiology, ACC 2024 Valvular Heart Disease: Year in Review/© 2024 American College of Cardiology, ACC 2024 HF and Cardiomyopathies: Year in Review/© 2024 American College of Cardiology, Woman out walking/© Seventyfour / stock.adobe.com (symbolic image with model), Woman checking smartwatch /© saltdium / stock.adobe.com (symbolic image with model), Cardiac catheterization/© Damian / stock.adobe.com

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Geoepidemiology and Immunologic Features of Autoinflammatory Diseases: a Comprehensive Review

Abstract

ACC 2024 Congress Coverage

Highlights from the ACC 2024 Congress

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

Incentivised to exercise

New intervention for STEMI-related cardiogenic shock

» View more highlights on the ACC 2024 congress hub page

Keynote webinar | Spotlight on sleep in brain health

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 3/2018

Mastocytosis: from a Molecular Point of View

Role of Mast Cells in Regulation of T Cell Responses in Experimental and Clinical Settings

Diagnostic Potential of Extracellular MicroRNA in Respiratory Diseases

The Epidemiology of Anaphylaxis

Correction to: Inflammation, Atherosclerosis, and Psoriasis

Correction to: Effectiveness, Tolerability, and Safety of Belimumab in Patients with Refractory SLE: a Review of Observational Clinical-Practice-Based Studies

ACC 2024 Congress Coverage

Highlights from the ACC 2024 Congress

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

Incentivised to exercise

New intervention for STEMI-related cardiogenic shock

» View more highlights on the ACC 2024 congress hub page