Autoinflammatory diseases in childhood

Abstract

Autoinflammatory diseases are defined as recurrent attacks of systemic inflammation that are often unprovoked (or triggered by a minor event) related to a lack of adequate regulation of the innate immune system. Within the past decade, the list of autoinflammatory diseases has included cryopyrin-associated periodic syndromes, familial Mediterranean fever, mevalonate kinase deficiency, tumor necrosis factor receptor-associated periodic syndrome, hereditary pyogenic disorders, pediatric granulomatous autoinflammatory diseases, idiopathic febrile syndromes (systemic-onset juvenile idiopathic arthritis, PFAPA syndrome), complement dysregulation syndromes and Behcet’s disease. The hereditary autoinflammatory diseases are a group of Mendelian disorders characterized by seemingly unprovoked fever and localized inflammation. Autoinflammatory diseases can activate NOD-like receptors and inflammasome products including especially interleukin 1β. In this review, it focuses on how recent advances have impacted hereditary autoinflammatory diseases.

Share and Cite:

Sozeri, B. and Kasapcopur, O. (2014) Autoinflammatory diseases in childhood. Modern Research in Inflammation, 3, 7-18. doi: 10.4236/mri.2014.31002.

Conflicts of Interest

The authors declare no conflicts of interest.

References

[1] Hashkes, P.J. and Toker, O. (2012) Autoinflammatory syndromes. Pediatric Clinics of North America, 59, 447-470. http://dx.doi.org/10.1016/j.pcl.2012.03.005
[2] Savic, S., Dickie, L.J., Wittmann, M. and McDermott, M.F. (2012) Autoinflammatory syndromes and cellular responses to stress: Pathophysiology, diagnosis and new treatment perspectives. Best Practice & Research Clinical Rheumatology, 26, 505-533. http://dx.doi.org/10.1016/j.berh.2012. 07.009
[3] Masters, S.L., Simon, A., Aksentijevich, I. and Kastner, D.L. (2009) Horror autoinflammaticus: The molecular pathophysiology of autoinflammatory disease. Annual Review of Immunology, 27, 621-668. http://dx.doi.org/10.1146/annurev.immunol.25.022106.141627
[4] Ben-Chetrit, E. and Levy, M. (1998) Familial Mediterranean fever. Lancet, 351, 659-664. http://dx.doi.org/10.1016/S0140-6736(97)09408-7
[5] Konstantopoulos, K., Kanta, A., Deltas, C., Atamian, V., Mavrogianni, D., Tzioufas, A.G., et al. (2003) Familial Mediterranean fever associated pyrin mutations in Greece. Annals of the Rheumatic Diseases, 62, 479-481. http://dx.doi.org/10.1136/ard.62.5.479
[6] 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. European Journal of Human Genetics, 11, 50-56. http://dx.doi.org/10.1038/sj.ejhg.5200916
[7] Tunca, M., Akar, S., Onen, F., Ozdogan, H., Kasapcopur, O., Yalcinkaya, F., et al. (2005) Familial Mediterranean fever (FMF) in Turkey: Results of a nationwide multicenter study. Medicine (Baltimore), 84, 1-11. http://dx.doi.org/10.1097/01.md.0000152370.84628.0c
[8] Gedalia, A., Adar, A. and Gorodischer, R. (1992) Familial Mediterranean fever in children. The Journal of Rheumatology, 35, 1-9.
[9] Ben-Chetrit, E. and Ben-Chetrit, A. (2001) Familial Mediterranean fever and menstruation. BJOG, 108, 403-407. http://dx.doi.org/10.1111/j.1471-0528.2001.00083.x
[10] Rigante, D. (2012) The fresco of autoinflammatory diseases from the pediatric perspective. Autoimmunity Reviews, 11, 348-356. http://dx.doi.org/10.1016/j.autrev.2011.10.008
[11] Brik, R., Shinawi, M., Kasinetz, L. and Gershoni-Baruch, R. (2001) The musculoskeletal manifestations of familial Mediterranean fever in children genetically diagnosed with the disease. Arthritis & Rheumatology, 44, 14161419. http://dx.doi.org/10.1002/1529-0131(200106)44:6<1416::AID-ART 236>3.0.CO;2-6
[12] Lidar, M., Kedem, R., Mor, A., Levartovsky, D., Langevitz, P. and Livneh, A. (2005) Arthritis as the sole episodic manifestation of familial Mediterranean fever. The Journal of Rheumatology, 32, 859-862.
[13] Okutur, K., Seber, S., Oztekin, E., Bes, C. and Borlu, F. (2008) Recurrent pericarditis as the initial manifestation of Familial Mediterranean fever. Medical Science Monitor, 14, CS139-CS141.
[14] Tufan, G. and Demir, S. (2010) Uncommon clinical pattern of FMF: Protracted febrile myalgia syndrome. Rheumatology International, 30, 1089-1090. http://dx.doi.org/10.1007/s00296-009-1024-2
[15] Aksu, K. and Keser, G. (2011) Coexistence of vasculitides with familial Mediterranean fever. Rheumatology International, 31, 1263-1274. http://dx.doi.org/10.1007/s00296-009-1024-2
[16] Livneh, A., Langevitz, P., Zemer, D., Zaks, N., Kees, S., Lidar, T., et al. (1997) Criteria for the diagnosis of familial Mediterranean fever. Arthritis & Rheumatology, 40, 1879-1885.
http://dx.doi.org/10.1002/art.1780401023
[17] Yalcinkaya, F., Ozen, S., Ozcakar, Z.B., Aktay, N., Cakar, N., Duzova, A., et al. (2009) A new set of criteria for the diagnosis of familial Mediterranean fever in childhood. Rheumatology (Oxford), 48, 395-398. http://dx.doi.org/10.1093/rheumatology/ken509
[18] Kondi, A., Hentgen, V., Piram, M., Letierce, A., Guillame-Czitrom, S. and Koné-Paut, I. (2010) Validation of the new pediatric criteria for the diagnosis of familial Mediterranean fever: Data from a mixed population of 100 children from the French reference centre for auto-inflammatory disorders. Rheumatology (Oxford), 49, 2200-2203. http://dx.doi.org/10.1093/rheumatology/keq252
[19] Ozcakar, Z.B., Yalcinkaya, F., Cakar, N., Acar, B., Bilgic, A.E., Uncu, N., et al. (2011) Application of the new pediatric criteria and Tel Hashomer criteria in heterozygous patients with clinical features of FMF. European Journal of Pediatrics, 170, 1055-1057. http://dx.doi.org/10.1007/s00431-011-1404-y
[20] 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.
http://dx.doi.org/10.1016/S0092-8674(00)80539-5
[21] (1997) A candidate gene for familial mediterranean fever. French FMF Consortium. Nature Genetics, 17, 25-31. http://dx.doi.org/10.1038/ng0997-25
[22] Chae JJ, Aksentijevich I and Kastner DL. (2009) Advances in the understanding of familial mediterranean fever and possibilities for targeted therapy. British Journal of Haematology, 146, 467-478. http://dx.doi.org/10.1111/j.1365-2141.2009.07733.x
[23] Milhavet, F., Cuisset, L., Hoffman, H.M., Slim, R., ElShanti, H., Aksentijevich, I., et al. (2008) The infevers autoinflammatory mutation online registry: Update with new genes and functions. Human Mutation, 29, 803-880. http://dx.doi.org/10.1002/humu.20720
[24] Shinawi, M., Brik, R., Berant, M., et al. (2000) Familial Mediterranean fever: High gene frequency and heterogeneous disease among an Israeli-Arab population. The Journal of Rheumatology, 27, 1492-1495.
[25] Gershoni-Baruch, R., Shinawi, M., Leah, K., et al. (2001) Familial Mediterranean fever: Prevalence, penetrance and genetic drift. European Journal of Human Genetics, 9, 634-637.
http://dx.doi.org/10.1038/sj.ejhg.5200672
[26] Touitou, I. (2001) The spectrum of familial Mediterranean fever (FMF) mutations. European Journal of Human Genetics, 9, 473-483. http://dx.doi.org/10.1038/sj.ejhg.5200658
[27] Mattit, H., Joma, M., Al-Cheikh, S., et al. (2006) Familial Mediterranean fever in the Syrian population: Gene mutation frequencies, carrier rates and phenotype genotype correlation. European Journal of Medical Genetics, 49, 481-486. http://dx.doi.org/10.1016/j.ejmg.2006.03.002
[28] Brik, R., Shinawi, M., Kepten, I., Berant, M. and Gershoni-Baruch, R. (1999) Familial Mediterranean fever: Clinical and genetic characterization in amixed pediatric population of Jewish and Arab patients. Pediatrics, 103, 70-73. http://dx.doi.org/10.1542/peds.103.5.e70
[29] Yilmaz, E., Ozen, S., Balci, B., Duzova, A., Topaloglu, R., Besbas, N., et al. (2001) Mutation frequency of Familial Mediterranean fever and evidence for a high carrier rate in the Turkish population. European Journal of Human Genetics, 9, 553-555. http://dx.doi.org/10.1038/sj.ejhg.5200674
[30] Majeed, H.A., El-Shanti, H., Al-Khateeb, M.S. and Rabaiha, Z.A. (2002) Genotype/phenotype correlations in Arab patients with familial Mediterranean fever. Seminars in Arthritis and Rheumatism, 31, 371-376. http://dx.doi.org/10.1053/sarh.2002.32551
[31] Daniels, M., Shohat, T., Brenner-Ullman, A. and Shohat, M. (1995) Familial Mediterranean fever: High gene frequency among the non-Ashkenazic and Ashkenazic Jewish populations in Israel. American Journal of Medical Genetics, 55, 311-314. http://dx.doi.org/10.1002/ajmg.1320550313
[32] Yuval, Y., Hemo-Zisser, M., Zemer, D., Sohar, E. and Pras, M. (1995) Dominant inheritance in two families with familial Mediterranean fever (FMF). American Journal of Medical Genetics, 57, 455-457. http://dx.doi.org/10.1002/ajmg.1320570319
[33] Booty, M.G., Chae, J.J., Masters, S.L., Remmers, E.F., Barham, B., Le, J.M., Barron, K.S., Holland, S.M., Kastner, D.L. and Aksentijevich, I. (2009) Familial Mediterranean fever with a single MEFV mutation: Where is the second hit? Arthritis & Rheumatism, 60, 1851-1861. http://dx.doi.org/10.1002/art. 24569
[34] Ozen, S. (2009) Changing concepts in familial Mediterranean fever: Is it possible to have an autosomal-recessive disease with only one mutation? Arthritis & Rheumatism, 60, 1575-1577. http://dx.doi.org/10.1002/art.24565
[35] Singh-Grewal, D., Chaitow, J., Aksentijevich, I. and Christodoulou, J. (2007) Coexistent MEFV and CIAS1 mutations manifesting as familial Mediterranean fever plus deafness [letter]. Annals of the Rheumatic Diseases, 66, 1541. http://dx.doi.org/10.1136/ard.2007.075655
[36] Fonnesu, C., Cerquaglia, C., Giovinale, M., Curigliano, V., Verrecchia, E., de Socio, G., La Regina, M., Gasbarrini, G. and Manna, R. (2009) Familial Mediterranean fever: A review for clinical management. Joint Bone Spine, 76, 227-233. http://dx.doi.org/10.1016/j.jbspin.2008.08.004
[37] Onen, F. (2006) Familial mediterranean fever. Rheumatology International, 26, 489-496. http://dx.doi.org/10.1007/s00296-005-0074-3
[38] Dinarello, C.A., Wolff, S.M., Goldfinger, S.E., Dale, D.C. and Alling, D.W. (1974) Colchicine therapy for familial mediterranean fever. A double-blind trial. New England Journal of Medicine, 291, 934-937. http://dx.doi.org/10.1056/NEJM197410312911804
[39] Ozturk, M.A., Kanbay, M., Kasapoglu, B., Onat, A.M., Guz, G., Furst, D.E. and Ben-Chetrit, E. (2011) Therapeutic approach to familial Mediterranean fever: A review update. Clinical and Experimental Rheumatology, 29, S77-S86.
[40] Cronstein, B.N. and Terkeltaub, R. (2006) The inflammatory process of gout and its treatment. Arthritis Research & Therapy, 8, S3. http://dx.doi.org/10.1186/ar1908
[41] Nuki, G. (2008) Colchicine: A critical appraisal of its mechanism of action and efficacy in crystal-induced inflammation. Current Rheumatology Reports, 10, 218-227. http://dx.doi.org/10.1007/ s11926-008-0036-3
[42] Ben-Chetrit, E., Bergmann, S. and Sood, R. (2006) Mechanism of the anti-inflammatory effect of colchicine in rheumatic diseases: A possible new outlook through microarray analysis. Rheumatology, 45, 274-282. http://dx.doi.org/10.1093/rheumatology/kei140
[43] Kallinich, T., Haffner, D., Niehues, T., Huss, K., Lainka, E., Neudorf, U., Schaefer, C., Stojanov, S., Timmann, C., Keitzer, R., Ozdogan, H. and Ozen, S. (2007) Colchicine use in children and adolescents with familial Mediterranean fever: Literature review and consensus statement. Pediatrics, 119, e474-e483. http://dx.doi.org/10.1542/peds.2006-1434
[44] Padeh, S., Gerstein, M. and Berkun, Y. (2012) Colchicine is a safe drug in children with familial Mediterranean fever. Journal of Pediatrics, 161, 1142-1146. http://dx.doi.org/10.1016/j.jpeds.2012. 05.047
[45] Cerquaglia, C., Diaco, M., Nucera, G., La Regina, M., Montalto, M. and Manna, R. (2005) Pharmacological and clinical basis of treatment of familial Mediterranean fever (FMF) with colchicine or analogues: An update. Current Drug Target-Inflammation & Allergy, 4, 117-124.
http://dx.doi.org/10.2174/1568010053622984
[46] Meinzer, U., Quartier, P., Alexandra, J.F., Hentgen, V., Retornaz, F. and Koné-Paut, I. (2011) Interleukin-1 targeting drugs in familial Mediterranean fever: A case series and a review of the literature. Seminars in Arthritis and Rheumatism, 41, 265-271. http://dx.doi.org/10.1016/j.semarthrit. 2010.11.003
[47] Marek-Yagel, D., Berkun, Y., Padeh, S., Abu, A., Reznik-Wolf, H., Livneh, A., Pras, M. and Pras, E. (2009) Clinical disease among patients heterozygous for familial Mediterranean fever. Arthritis and Rheumatism, 60, 1862-1866. http://dx.doi.org/10.1002/art.24570
[48] Frenkel, J., Houten, S.M., Waterham, H.R., Wanders, R.J., Rijkers, G.T., Kimpen, J.L.L., Duran, R., Poll-The, B.T. and Kuis, W. (2000) Mevalonate kinase deficiency and Dutch type periodic fever. Clinical and Experimental Rheumatology, 18, 525-532.
[49] Drenth, J.P., van Deuren, M., van der Ven-Jongekrijg, J., Schalkwijk, C.G. and van der Meer, J.W. (1995) Cytokine activation during attacks of the hyperimmunoglobulinemia D and periodic fever syndrome. Blood, 85, 3586-3593.
[50] Mandey, S.H., Kuijk, L.M., Frenkel, J. and Waterham, H.R. (2006) A role for geranylgeranylation in interleukin-1beta secretion. Arthritis and Rheumatism, 54, 3690-3695. http://dx.doi.org/10.1002/art. 22194
[51] van der Hilst, J.C., Bodar, E.J., Barron, K.S., Frenkel, J., Drenth, J.P., van der Meer, J.W., Simon, A. and the International HIDS Study Group. (2008) Long-term follow-up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome. Medicine, 87, 301-310. http://dx.doi.org/10.1097/MD.0b013e318190cfb7
[52] Simon, A., Kremer, H.P., Wevers, R.A., Scheffer, H., De Jong, J.G., van der Meer, J.W. and Drenth, J.P. (2004) Mevalonate kinase deficiency: Evidence for a phenotypic continuum. Neurology, 62, 994-997. http://dx.doi.org/10.1212/01.WNL.0000115390.33405.F7
[53] D’Osualdo, A., Picco, P., Caroli, F., Gattorno, M., Giacchino, R., Fortini, P., Corona, F., Tommasini, A., Salvi, G., Specchia, F., Obici, L., Meini, A., Ricci, A., Seri, M., Ravazzolo, R., Martini, A. and Ceccherini, I. (2005) MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever. European Journal of Human Genetics, 13, 314-320. http://dx.doi.org/10.1038/sj.ejhg.5201323
[54] Ammouri, W., Cuisset, L., Rouaghe, S., Rolland, M.O., Delpech, M., Grateau, G. and Ravet, N. (2007) Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome. Rheumatology, 46, 1597-1600. http://dx.doi.org/10.1093/rheumatology/kem200
[55] Siewert, R., Ferber, J., Horstmann, R.D., Specker, C., Heering, P.J. and Timmann, C. (2006) Hereditary periodic fever with systemic amyloidosis: Is hyper-IgD syndrome really a benign disease? American Journal of Kidney Diseases, 48, e41-e45. http://dx.doi.org/10.1053/j.ajkd.2006.05.027
[56] Touitou, I., Lesage, S., McDermott, M., Cuisset, L., Hoffman, H., Dode, C., Shoham, N., Aganna, E., Hugot, J.P., Wise, C., Waterham, H., Pugnere, D., Demaille, J. and de Menthiere, C.S. (2004) Infevers: An evolving mutation database for auto-inflammatory syndromes. Human Mutation, 24, 194-198. http://dx.doi.org/10.1002/humu.20080
[57] Houten, S.M., Kuis, W., Duran, M., De Koning, T.J., van Royen-Kerkhof, A., Romeijn, G.J., Frenkel, J., Dorland, L., de Barse, M.M.J., Huijbers, W.A.R., Rijkers, G.T., Waterham, H.R., Wanders, R.J.A. and Poll-The, B.T. (1999) Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nature Genetics, 22, 175-177. http://dx.doi.org/10.1038/9691
[58] Mandey, S.H., Schneiders, M.S., Koster, J. and Waterham, H.R. (2006) Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency. Human Mutation, 27, 796-802. http://dx.doi.org/10.1002/humu.20361
[59] Takada, K., Aksentijevich, I., Mahadevan, V., Dean, J.A., Kelley, R.I. and Kastner, D.L. (2003) Favorable preliminary experience with etanercept in two patients with the hyperimunoglobulinemia D and periodic fever syndrome. Arthritis & Rheumatism, 48, 2645-2651. http://dx.doi.org/10.1002/art. 11218
[60] Rigante, D., Ansuini, V., Bertoni, B., Pugliese, A.L., Avallone, L., Federico, G. and Stabile, A. (2006) Treatment with anakinra in the hyperimmunoglobulinemia D/periodic fever syndrome. Rheumatology International, 27, 97-100. http://dx.doi.org/10.1007/s00296-006-0164-x
[61] McDermott, M.F., Aksentijevich, I., Galon, J., McDermott, E.M., Ogunkolade, B.W., 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, 133-144.
http://dx.doi.org/10.1016/S0092-8674(00)80721-7
[62] Nedjai, B., Hitman, G.A., Church, L.D., Minden, K., Whiteford, M.L., McKee, S., Stjernberg, S., Pettersson, T., Ranki, A., Hawkins, P.N., P Arkwright, D., McDermott, M.F. and Turner, M.D. (2011) Differential cytokine secretion results from p65 and c-Rel NF-κB subunit signaling in peripheral bloodmononuclear cells of TNF receptorassociated periodic syndrome patients. Cellular Immunology, 268, 55-59. http://dx.doi.org/10.1016/j.cellimm.2011.02.007
[63] Aganna, E., Hammond, L., Hawkins, P.N., Aldea, A., Mc-Kee, S.A., van Amstel, H.K., et al. (2003) Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes. Arthritis and Rheumatism, 48, 2632-2644. http://dx.doi.org/10.1002/art.11215
[64] D’Osualdo, A., Ferlito, F., Prigione, I., Obici, L., Meini, A., Zulian, F., Pontillo, A., Corona, F., Barcellona, R., Di Duca, M., Santamaria, G., Traverso, F., Picco, P., Baldi, M., Plebani, A., Ravazzolo, R., Ceccherini, I., Martini, A. and Gattorno, M. (2006) Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis: Pathogenetic and clinical implications. Arthritis and Rheumatism, 54, 998-1008. http://dx.doi.org/10.1002/art.21657
[65] Ravet, N., Rouaghe, S., Dode, C., Bienvenu, J., Stirnemann, J., Levy, P., Delpech, M. and Grateau, G. (2006) Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene. Annals of the Rheumatic Diseases, 65, 1158-1162. http://dx.doi.org/10.1136/ard. 2005.048611
[66] Federici, S., Caorsi, R. and Gattorno, M. (2012) The autoinflammatory diseases. Swiss Medical Weekly, 142, Article ID: w13602.
[67] Pelagatti, M.A., Meini, A., Caorsi, R., Cattalini, M., Federici, S., Zulian, F., Calcagno, G., Tommasini, A., Bossi, G., Sormani, M.P., Caroli1, F., Plebani, A., Ceccherini, I., Martini, A. and Gattorno, M. (2011) Long-term clinical profile of children with the low-penetrance R92Q mutation of the TNFRSF1A gene. Arthritis and Rheumatism, 63, 1141-1150. http://dx.doi.org/10.1002/art.30237
[68] Stojanov, S. and McDermott, M.F. (2005) The tumour necrosis factor receptor-associated periodic syndrome: Current concepts. Expert Reviews in Molecular Medicine, 7, 1-18. http://dx.doi.org/10. 1017/S1462399405009749
[69] Hull, K.M., Drewe, E., Aksentijevich, I., Singh, H.K., Wong, K., McDermott, E.M., Dean, J., Powell, R.J. and Kastner, D.L. (2002) The TNF receptor-associated periodic syndrome (TRAPS): Emerging concepts of an autoinflammatory disorder. Medicine, 81, 349-368. http://dx.doi.org/10.1097/ 00005792-200209000-00002
[70] Drewe, E., McDermott, E.M., Powell, P.T., Isaacs, J.D. and Powell, R.J. (2003) Prospective study of anti-tumour necrosis factor receptor superfamily 1B fusion protein, and case study of anti-tumour necrosis factor receptor superfamily 1A fusion protein, in tumour necrosis factor receptor associated periodic syndrome (TRAPS): Clinical and laboratory findings in a series of seven patients. Rheumatology, 42, 235-239. http://dx.doi.org/10.1093/rheumatology/keg070
[71] Kallinich, T., Briese, S., Roesler, J., Rudolph, B., Sarioglu, N., Blankenstein, O., Keitzer, R., Querfeld, U. and Haffner, D. (2004) Two familial cases with tumor necrosis factor receptor-associated periodic syndrome caused by a noncysteine mutation (T50M) in the TNFRSF1A gene associated with severe multiorganic amyloidosis. Journal of Rheumatology, 31, 2519-2522.
[72] Gattorno, M., Pelagatti, M.A., Meini, A., Obici, L., Barcellona, R., Federici, S., Buoncompagni, A., Plebani, A., Merlini, G. and Martini, A. (2008) Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome. Arthritis & Rheumatism, 58, 1516-1520. http://dx.doi.org/10.1002/art.23475
[73] Hoffman, H., Mueller, J., Brodie, D., Wanderer, A.A. and Kolodner, R.D. (2001) Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nature Genetics, 29, 301-305. http://dx.doi.org/10.1038/ng756
[74] Feldmann, J., Prieur, A.M., Quartier, P., Berquin, P., Certain, S., Cortis, E., Teillac-Hamel, D., Fischer, A. and de Saint Basile, G. (2002) Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. American Society of Human Genetics, 71, 198-203. http://dx.doi.org/10.1086/341357
[75] Aksentijevich, I., Putnam, C.D., Remmers, E.F., Mueller, J.L., Le, J., Kolodner, R.D., Moak, Z., Chuang, M., Austin, F., Goldbach-Mansky, R., Hoffman, H.M. and Kastner, D.L. (2007) The clinical continuum of cryopyrinopathies: Novel CIAS1 mutations in North American patients and a new cryopyrin model. Arthritis & Rheumatism, 56, 1273-1285. http://dx.doi.org/10.1002/art.22491
[76] Henderson, C. and Goldbach-Mansky, R. (2010) Monogenic autoinflammatory diseases: New insights into clinical aspects and pathogenesis. Current Opinion in Rheumatology, 22, 567-578.
[77] Hoffman, H.M., Wanderer, A.A. and Broide, D.H. (2001) Familial cold autoinflammatory syndrome: Phenotype and genotype of an autosomal dominant periodic fever. Journal of Allergy and Clinical Immunology, 108, 615-620. http://dx.doi.org/10.1067/mai.2001.118790
[78] Maksimovic, L., Stirnemann, J., Caux, F., Ravet, N., Rouaghe, S., Cuisset, L., Letellier, E., Grateau, G., Morin, A.S. and Fain, O. (2008) New CIAS1 mutation and anakinra efficacy in overlapping of Muckle-Wells and familial cold autoinflammatory syndromes. Rheumatology, 47, 309-310.
http://dx.doi.org/10.1093/rheumatology/kem318
[79] Muckle, T.J. and Wells, M. (1962) Urticaria, deafness, and amyloidosis: A new heredo-familial syndrome. Quarterly Journal of Medicine, 31, 235-248.
[80] Nazzari, G., Desirello, G. and Crovato, F. (1995) Recurrent urticarial skin eruption since infancy. Muckle-Wells syndrome (MWS). Archives of Dermatology, 131, 81-85. http://dx.doi.org/10.1001/ archderm.131.1.81
[81] Leslie, K.S., Lachmann, H.J., Bruning, E., McGrath, J.A., Bybee, A., Gallimore, J.R., Roberts, P.F., Woo, P., Grattan, C.E. and Hawkins, P.N. (2006) Phenotype, genotype, and sustained response to anakinra in 22 patients with autoinflammatory disease associated with CIAS-1/NALP3 mutations. Archives of Dermatology, 142, 1591-1517. http://dx.doi.org/10.1001/archderm.142.12.1591
[82] Prieur, A.M. (2001) A recently recognised chronic inflammatory disease of early onset characterised by the triad of rash, central nervous systeminvolvement and arthropathy. Clinical and Experimental Rheumatology, 19, 103-106.
[83] Prieur, A.M. and Griscelli, C. (1981) Arthropathy with rash, chronic meningitis, eye lesions, and mental retardation. Journal of Pediatrics, 99, 79-83. http://dx.doi.org/10.1016/S0022-3476(81)80961-4
[84] Prieur, A.M., Griscelli, C., Lampert, F., Truckenbrodt, H., Guggenheim, M.A., Lovell, D.J., Pelkonnen, P., Chevrant-Breton, J. and Ansell, B.M. (1987) A chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome. A specific entity analysed in 30 patients. Scandinavian Journal of Rheumatology, 66, 57-68. http://dx.doi.org/10.3109/03009748709102523
[85] Aksentijevich, I., Nowak, M., Mallah, M., Chae, J.J., Watford, W.T., Hofmann, S.R., et al. (2002) De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): A new member of the expanding family of pyrin-associated autoinflammatory diseases. Arthritis and Rheumatism, 46, 3340-3348. http://dx.doi.org/10.1002/art.10688
[86] Caroli, F., Pontillo, A., D’Osualdo, A., Travan, L., Ceccherini, I., Crovella, S., Alessio, M., Stabile, A., Gattorno, M., Tommasini, A., Martini, A. and Lepore, L. (2007) Clinical and genetic characterization of Italian patients affected by CINCA yndrome. Rheumatology, 46, 473-478. http://dx.doi.org/10.1093/ rheumatology/kel269
[87] Bilginer, Y., Akpolat, T. and Ozen, S. (2011) Renal amyloidosis in children. Pediatric Nephrology, 26, 1215-1227. http://dx.doi.org/10.1007/s00467-011-1797-x
[88] Neven, B., Marvillet, I., Terrada, C., Ferster, A., Boddaert, N., Couloignier, V., Pinto, G., Pagnier, A., Bodemer, C., Bodaghi, B., Tardieu, M., Prieur, A.M. and Quartier, P. (2010) Longterm efficacy of the interleukin-1 receptor antagonist anakinra in ten patients with neonatal-onset multisystem inflammatory disease/chronic infantile neurologic, cutaneous, articular syndrome. Arthritis and Rheumatism, 62, 258-267. http://dx.doi.org/10.1002/art.25057
[89] Goldbach-Mansky, R., Shroff, S.D., Wilson, M., Snyder, C., Plehn, S., Barham, B., Pham, T.H., Pucino, F., Wesley, R.A., Papadopoulos, J.H., Weinstein, S.P., Mellis, S.J. and Kastner, D.L. (2008) A pilot study to evaluate the safety and efficacy of the long-acting interleukin-1 inhibitor rilonacept (interleukin-1 Trap) in patients with familial cold autoinflammatory syndrome. Arthritis and Rheumatism, 58, 2432-2442. http://dx.doi.org/10.1002/art.23620
[90] Lachmann, H.J., Kone-Paut, I., Kuemmerle-Deschner, J.B., Leslie, K.S., Hachulla, E., Quartier, P., Gitton, X., Widmer, A., Patel, N. and Hawkins, P.N. (2009) Use of canakinumab in the cryopyrin-associated periodic syndrome. New England Journal of Medicine, 360, 2416-2425.
http://dx.doi.org/10.1056/NEJMoa0810787
[91] Jeru, I., Duquesnoy, P., Fernandes-Alnemri, T., Cochet, E., Yu, J.W., Lackmy-Port-Lis, M., Grimprel, E., Landman-Parker, J., Hentgen, V., Marlin, S., McElreavey, K., Sarkisian, T., Grateau, G., Alnemri, E.S. and Amselem, S. (2008) Mutations in NALP12 cause hereditary periodic fever syndromes. Proceedings of the National Academy of Sciences of the United States of America, 105, 1614-1619. http://dx.doi.org/10.1073/pnas.0708616105
[92] Borghini, S., Tassi, S., Chiesa, S., Caroli, F., Carta, S., Caorsi, R., Fiore, M., Delfino, L., Lasigliè, D., Ferraris, C., Traggiai, E., Di Duca, M., Santamaria, G., D’Osualdo, A., Tosca, M., Martini, A., Ceccherini, I., Rubartelli, A. and Gattorno, M. (2010) Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of a NLRP12 mutation. Arthritis and Rheumatism, 63, 830-839.
[93] Aksentijevich, I., Masters, S.L., Ferguson, P.J., Dancey, P., Frenkel, J., van Royen-Kerkhoff, A., et al. (2009) An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist. New England Journal of Medicine, 360, 2426-2437. http://dx.doi.org/10.1056/NEJMoa0807865
[94] Lindor, N.M., Arsenault, T.M., Solomon, H., Seidman, C.E. and McEvoy, M.T. (1997) A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome. Mayo Clinic proceedings, 72, 611-615.
[95] Shoham, N.G., Centola, M., Mansfield, E., Hull, K.M., Wood, G., Wise, C.A. and Kastner, D.L. (2003) Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway. Proceedings of the National Academy of Sciences of the United States of America, 100, 13501-13506. http://dx.doi.org/10.1073/pnas.2135380100
[96] Wise, C.A., Gillum, J.D., Seidman, C.E., Lindor, N.M., Veile, R., Bashiardes, S. and Lovett, M. (2002) Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder. Human Molecular Genetics, 11, 961-969. http://dx.doi.org/10.1093/ hmg/11.8.961
[97] Yeon, H.B., Lindor, N.M., Seidman, J.G. and Seidman, C.E. (2000) Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome maps to chromosome 15q. American Journal of Human Genetics, 66, 1443-1448. http://dx.doi.org/10.1086/302866
[98] Ferrero-Miliani, L., Nielsen, O.H., Andersen, P.S. and Girardin, S.E. (2007) Chronic inflammation: Importance of NOD2 and NALP3 in interleukin-1beta generation. Clinical and Experimental Immunology, 147, 227-235.
[99] Blau, E.B. (1985) Familial granulomatous arthritis, iritis, and rash. Journal of Pediatrics, 107, 689-693. http://dx.doi.org/10.1016/S0022-3476(85)80394-2
[100] Miceli-Richard, C., Lesage, S., Rybojad, M., Prieur, A.M., Manouvrier-Hanu, S., Hafner, R., Chamaillard, M., Zouali, H., Thomas, G. and Hugot, J.P. (2001) CARD15 mutations in Blau syndrome. Nature Genetics, 29, 19-20. http://dx.doi.org/10.1038/ng720
[101] 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. http://dx.doi.org/10.1182/ blood-2004-07-2972
[102] van Duist, M.M., Albrecht, M., Podswiadek, M., Giachino, D., Lengauer, T., Punzi, L. and De Marchi, M. (2005) A new CARD15 mutation in Blau syndrome. European Journal of Human Genetics, 13, 742-747. http://dx.doi.org/10.1038/sj.ejhg.5201404
[103] Fink, C.W. and Cimaz, R. (1997) Early onset sarcoidosis: Not a benign disease. Journal of Rheumatology, 24, 174-177.
[104] Caorsi, R., Pelagatti, M.A., Federici, S., Finetti, M., Martini, A. and Gattorno, M. (2010) Periodic fever, apthous stomatitis, pharyngitis and adenitis syndrome. Current Opinion in Rheumatology, 22, 579-584. http://dx.doi.org/10.1097/BOR.0b013e32833cc9cb
[105] Cochard, M., Clet, J., Le, L., Pillet, P., Onrubia, X., Guéron, T., Faouzi, M. and Hofer, M. (2010) PFAPA syndrome is not a sporadic disease. Rheumatology, 49, 1984-1987. http://dx.doi.org/10.1093/rheu matology/keq187
[106] Berkun, Y., Levy, R., Hurwitz, A., Meir-Harel, M., Lidar, M., Livneh, A. and Padeh, S. (2011) The familial Mediterranean fever gene as a modifier of periodic fever, aphthous stomatitis, pharyngitis, and adenopathy syndrome. Seminars in Arthritis and Rheumatism, 40, 467-472. http://dx.doi.org/10. 1016/j.semarthrit.2010.06.009

Copyright © 2021 by authors and Scientific Research Publishing Inc.

Creative Commons License

This work and the related PDF file are licensed under a Creative Commons Attribution 4.0 International License.