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Erschienen in: Clinical Reviews in Allergy & Immunology 3/2018

03.06.2017

Geoepidemiology and Immunologic Features of Autoinflammatory Diseases: a Comprehensive Review

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

Erschienen in: Clinical Reviews in Allergy & Immunology | Ausgabe 3/2018

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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.
Literatur
2.
Zurück zum Zitat 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 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
3.
4.
Zurück zum Zitat 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 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
10.
Zurück zum Zitat 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 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.
Zurück zum Zitat Heller H, Sohar E, Pras M (1961) Ethnic distribution and amyloidosis in familial Mediterranean fever (FMF). Pathol Microbiol (Basel) 24:718–723 Heller H, Sohar E, Pras M (1961) Ethnic distribution and amyloidosis in familial Mediterranean fever (FMF). Pathol Microbiol (Basel) 24:718–723
13.
Zurück zum Zitat 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 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.
Zurück zum Zitat Sarkisian T, Ajrapetian H, Beglarian A, Shahsuvarian G, Egiazarian A (2008) Familial Mediterranean fever in Armenian population. Georgian Med News 156:105–111 Sarkisian T, Ajrapetian H, Beglarian A, Shahsuvarian G, Egiazarian A (2008) Familial Mediterranean fever in Armenian population. Georgian Med News 156:105–111
15.
Zurück zum Zitat 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 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.
18.
20.
Zurück zum Zitat 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 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
28.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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
32.
33.
34.
Zurück zum Zitat 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 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.
39.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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
43.
Zurück zum Zitat 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 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
45.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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
48.
49.
Zurück zum Zitat 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 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
51.
54.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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.
60.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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
69.
71.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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.
77.
Zurück zum Zitat 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 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
79.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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
83.
84.
Zurück zum Zitat 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 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.
87.
Zurück zum Zitat 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 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
90.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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
93.
94.
Zurück zum Zitat 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 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.
96.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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
106.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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.
112.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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
115.
Zurück zum Zitat Schneider R, Laxer RM (1998) Systemic onset juvenile rheumatoid arthritis. Baillieres Clin Rheumatol 12:245–271PubMedCrossRef Schneider R, Laxer RM (1998) Systemic onset juvenile rheumatoid arthritis. Baillieres Clin Rheumatol 12:245–271PubMedCrossRef
116.
Zurück zum Zitat 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 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/​0300974060108925​9 PubMedCrossRef
117.
Zurück zum Zitat 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 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.
Zurück zum Zitat Kaipiainen-Seppänen O, Savolainen A (2001) Changes in the incidence of juvenile rheumatoid arthritis in Finland. Rheumatol Oxf Engl 40:928–932CrossRef Kaipiainen-Seppänen O, Savolainen A (2001) Changes in the incidence of juvenile rheumatoid arthritis in Finland. Rheumatol Oxf Engl 40:928–932CrossRef
119.
120.
121.
122.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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
126.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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
132.
Zurück zum Zitat 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 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
134.
Zurück zum Zitat 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 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
136.
Zurück zum Zitat Marshall GS, Edwards KM, Butler J, Lawton AR (1987) Syndrome of periodic fever, pharyngitis, and aphthous stomatitis. J Pediatr 110:43–46PubMedCrossRef Marshall GS, Edwards KM, Butler J, Lawton AR (1987) Syndrome of periodic fever, pharyngitis, and aphthous stomatitis. J Pediatr 110:43–46PubMedCrossRef
138.
Zurück zum Zitat 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 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
140.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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.
143.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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
146.
Zurück zum Zitat 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 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
148.
Zurück zum Zitat 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 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
150.
Zurück zum Zitat 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 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
152.
154.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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
163.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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
167.
Zurück zum Zitat 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 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
169.
170.
Zurück zum Zitat 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 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.
172.
173.
Zurück zum Zitat 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 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
175.
Zurück zum Zitat 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 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
177.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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
181.
Zurück zum Zitat 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 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
183.
Zurück zum Zitat 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 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
185.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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
192.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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.
198.
Zurück zum Zitat 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 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
200.
201.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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
208.
210.
212.
Zurück zum Zitat 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 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
215.
Zurück zum Zitat 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 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
218.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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.
Zurück zum Zitat 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 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
222.
225.
Zurück zum Zitat 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 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
228.
Zurück zum Zitat 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 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
Metadaten
Titel
Geoepidemiology and Immunologic Features of Autoinflammatory Diseases: a Comprehensive Review
verfasst von
Yvan Jamilloux
Alexandre Belot
Flora Magnotti
Sarah Benezech
Mathieu Gerfaud-Valentin
Emilie Bourdonnay
Thierry Walzer
Pascal Sève
Thomas Henry
Publikationsdatum
03.06.2017
Verlag
Springer US
Erschienen in
Clinical Reviews in Allergy & Immunology / Ausgabe 3/2018
Print ISSN: 1080-0549
Elektronische ISSN: 1559-0267
DOI
https://doi.org/10.1007/s12016-017-8613-8

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