• 1  Almeida de Jesus A, Goldbach‐Mansky R. Monogenic autoinflammatory diseases: concept and clinical manifestations. Clin Immunol 2013;147:155–74. Cross Ref link Pubmed link
  • 2  Goldbach‐Mansky R. Immunology in clinic review series; focus on autoinflammatory diseases: update on monogenic autoinflammatory diseases: the role of interleukin (IL)‐1 and an emerging role for cytokines beyond IL‐1. Clin Exp Immunol 2012;167:391–404. Cross Ref link Pubmed link
  • 3  McGonagle D, McDermott MF. A proposed classification of the immunological diseases. PLOS Med 2006;3:1242–8. Cross Ref link
  • 4  Stoffman N, Magal N, Shohat T, et al. Higher than expected carrier rates for familial Mediterranean fever in various Jewish ethnic groups. Eur J Hum Genet 2000;8:307–10. Cross Ref link Pubmed link
  • 5  Lainka E, Neudorf U, Lohse P, et al. Incidence of TNFRSF1A mutations in German children: epidemiological, clinical and genetic characteristics. Rheumatology (Oxford) 2000;48:987–91. Cross Ref link
  • 6  Lainka E, Neudorf U, Lohse P, et al. Incidence and clinical features of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) and spectrum of mevalonate kinase (MVK) mutations in German children. Rheumatol Int 2012;32:3253–60. Cross Ref link Pubmed link
  • 7  Kieffer C, Cribier B, Lipsker D. Neutrophilic urticarial dermatosis: a variant of neutrophilic urticaria strongly associated with systemic disease. Report of 9 new cases and review of the literature. Medicine (Baltimore) 2009;88:23–31. Cross Ref link Pubmed link
  • 8  Henderson C, Goldbach‐Mansky R. Monogenic IL‐1 mediated autoinflammatory and immunodeficiency syndromes: finding the right balance in response to danger signals. Clin Immunol 2010;135:210–22. Cross Ref link Pubmed link
  • 9  Jéru I, Le Borgne G, Cochet E, et al. Identification and functional consequences of a recurrent NLRP12 missense mutation in periodic fever syndromes. Arthritis Rheum 2011;63:1459–64. Cross Ref link Pubmed link
  • 10  Martinon F, Tschopp J. Inflammatory caspases: linking an intracellular innate immune system to autoinflammatory diseases. Cell 2004;117:561–74. Cross Ref link Pubmed link
  • 11  Gattorno M, Federici S, Pelagatti MA, et al. Diagnosis and management of autoinflammatory diseases in childhood. J Clin Immunol 2008;28:73–83. Cross Ref link Pubmed link
  • 12  Hill SC, Namde M, Dwyer A et al. Arthropathy of neonatal onset multisystem disease (NOMID/CINCA). Pediatr Radiol 2007;37:145–52. Cross Ref link Pubmed link
  • 13  Ombrello MJ, Remmers EF, Sun G, et al. Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions. N Engl J Med 2012;366:330–8. Cross Ref link Pubmed link
  • 14  Magnotti F, Vitale A, Rigante D, et al. The most recent advances in pathophysiology and management of tumour necrosis factor receptor‐associated periodic syndrome (TRAPS): personal experience and literature review. Clin Exp Rheumatol 2013;31 Suppl. 77:PI 0141, PF 0149.
  • 15  Toro JR, Aksentijevich I, Hull K, Dean J, Kastner DL. Tumor necrosis factor receptor‐associated periodic syndrome: a novel syndrome with cutaneous manifestations. Arch Dermatol 2000;136:1487–94. Pubmed link
  • 16  Cantarini L, Lucherini OM, Muscari I, et al. Tumour necrosis factor receptor‐associated periodic syndrome (TRAPS): state of the art and future perspectives. Autoimmun Rev 2012;12:38–43. Cross Ref link Pubmed link
  • 17  Lachmann HJ, Papa R, Gerhold K, et al. The phenotype of TNF receptor‐associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry. Ann Rheum Dis 2014;73:2160–7. Cross Ref link Pubmed link
  • 18  Schoindre Y, Feydy A, Giraudet‐Lequintrec JS, et al. TNF receptor‐associated periodic syndrome (TRAPS); a new cause of joint destruction? Joint Bone Spine 2009;76:567–9. Cross Ref link Pubmed link
  • 19  Koné‐Paut I, Hentgen V, Guillaume‐Czitrom S, et al. The clinical spectrum of 94 patients carrying a single mutated MEFV allele. Rheumatology (Oxford) 2009;48:840–2. Cross Ref link Pubmed link
  • 20  Radakovic S, Holzer G, Tanew A. Erysipelas‐like erythema as a cutaneous sign of familial Mediterranean fever: a case report and review of the histopathologic findings. J Am Acad Dermatol 2013;68:e61–3. Cross Ref link Pubmed link
  • 21  Aydin F, Ozcelik C, Akpolat I, et al. Erysipelas‐like erythema with familial Mediterranean fever. J Dermatol 2011;38:513–15. Cross Ref link Pubmed link
  • 22  Livneh A, Langevitz P, Zemer D, et al. Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum 1997;40:1879–85. Cross Ref link Pubmed link
  • 23  Ozçakar ZB, Yalçınkaya F, Cakar N, et al. Application of the new pediatric criteria and Tel Hashomer criteria in heterozygous patients with clinical features of FMF. Eur J Pediatr 2011;170:1055–7. Cross Ref link Pubmed link
  • 24  Lidar M, Doron A, Barzilai A, et al. P. Erysipelas‐like erythema as the presenting feature of familial Mediterranean fever. J Eur Acad Dermatol Venereol 2013;27:912–15. Cross Ref link Pubmed link
  • 25  Barzilai A, Langevitz P, Goldberg I, et al. Erysipelas‐like erythema of familial Mediterranean fever: clinicopathologic correlation. J Am Acad Dermatol 2000;42:791–5. Cross Ref link Pubmed link
  • 26  Samuels J, Aksentijevich I, Torosyan Y, et al. 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) 1998;77:268–97. Cross Ref link Pubmed link
  • 27  Koné Paut I, Dubuc M, Sportouch J, et al. Phenotype–genotype correlation in 91 patients with familial Mediterranean fever reveals a high frequency of cutaneomucous features. Rheumatology (Oxford) 2000;39:1275–9. Cross Ref link Pubmed link
  • 28  Dogan CS, Akman S, Koyun M, et al. Prevalence and significance of the MEFV gene mutations in childhood Henoch–Schönlein purpura without FMF symptoms. Rheumatol Int 2013;33:377–80. Cross Ref link Pubmed link
  • 29  Balbir‐Gurman A, Nahir AM, Braun‐Moscovici Y. Vasculitis in siblings with familial Mediterranean fever: a report of three cases and review of the literature. Clin Rheumatol 2007;26:1183–5. Cross Ref link Pubmed link
  • 30  Simon A, Drenth JP, Matern D, et al. Long chain fatty acid (LCFA) abnormalities in hyper Igd syndrome (HIDS) and Familial Mediterranean Fever (FMF): new insight into heritable periodic fevers. Mol Genet Metab 2013;108:166–71. Cross Ref link Pubmed link
  • 31  Drenth JP, Boom BW, Toonstra J, Van der Meer JW. Cutaneous manifestations and histologic findings in the hyperimmunoglobulinemia D syndrome. International Hyper IgD Study Group. Arch Dermatol 1994;130:59–65. Cross Ref link Pubmed link
  • 32  van der Hilst JC, Bodar EJ, Barron KS, et al. Long‐term follow‐up, clinical features, and quality of life in a series of 103 patients with hyperimmunoglobulinemia D syndrome. Medicine (Baltimore) 2008;87:301–10. Cross Ref link Pubmed link
  • 33  Bader‐Meunier B, Florkin B, Sibilia J, et al. Mevalonate kinase deficiency: a survey of 50 patients. Pediatrics 2011;128:e152–9. Cross Ref link Pubmed link
  • 34  Wouters CH, Maes A, Foley KP, Bertin J, Rose CD. Blau syndrome, the prototypic autoinflammatory granulomatous disease. Pediatr Rheumatol Online J 2014;12:33. Cross Ref link Pubmed link
  • 35  Aksentijevich I, Masters SL, Ferguson PJ, et al. An autoinflammatory disease with deficiency of the interleukin‐1‐receptor antagonist. N Engl J Med 2009 Jun 4;360(23):2426–37. Cross Ref link Pubmed link
  • 36  Reddy S, Jia S, Geoffrey R, Lorier R, et al. An autoinflammatory disease due to homozygous deletion of the IL1RN locus. N Engl J Med 2009 Jun 4;360(23):2438–44. Cross Ref link Pubmed link
  • 37  Lindor NM, Arsenault TM, Solomon H, et al. A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome. Mayo Clin Proc 1997;72:611–15. Cross Ref link Pubmed link
  • 38  Waite AL, Schaner P, Richards N, et al. Pyrin modulates the intracellular distribution of PSTPIPI. PLOS One 2009;4:e6147. Cross Ref link Pubmed link
  • 39  Geusau A, Mothes‐Luksch N, Nahavandi H, et al. Identification of a homozygous PSTPIPI mutation in a patient with PAPA‐like syndrome responding to canakinumab treatment. JAMA Dermatol 2013;149:209–15. Cross Ref link Pubmed link
  • 40  Marzano AV, Trevisan V, Gattorno M, et al. Pyogenic arthritis, pyoderma gangrenosum, acne, and hidradenitis suppurativa (PAPASH): a new autoinflammatory syndrome associated with a novel mutation of the PSTPIP1 gene. JAMA Dermatol 2013;149:762–4. Cross Ref link Pubmed link
  • 41  Liu Y, Ramot Y, Torrelo A, et al. Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneity. Arthritis Rheum 2012;64:895–907. Cross Ref link Pubmed link
  • 42  Kanazawa N. Nakajo–Nishimura syndrome: an autoinflammatory disorder showing pernio‐like rashes and progressive partial lipodystrophy. Allergol Int 2012;61:197–206. Cross Ref link Pubmed link
  • 43  Kunimoto K, Kimura A, Uede K, et al. A new infant case of Nakajo–Nishimura syndrome with a genetic mutation in the immunoproteasome subunit: an overlapping entity with JMP and CANDLE syndrome related to PSMB8 mutations. Dermatology 2013;227:26–30. Cross Ref link Pubmed link
  • 44  Torrelo A, Patel S, Colmenero I, et al. Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome. J Am Acad Dermatol 2010;62:489–95. Cross Ref link Pubmed link
  • 45  Majeed HA, Kalaawi M, Mohanty D, et al. Congenital dyserythropoietic anaemia and chronic recurrent multifocal osteomyelitis in three related children and the association with sweet syndrome in two siblings. J Pediatr 1989;115:730–4. Cross Ref link Pubmed link
  • 46  Ferguson PJ, Chen S, Tayeh MK, et al. Homozygous mutations in LP1N2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia (Majeed syndrome). J Med Genet 2005;42:551–7. Cross Ref link Pubmed link
  • 47  Lipsker D. The Schnitzler syndrome. Orphanet J Rare Dis 2010;5:38. Cross Ref link Pubmed link
  • 48  De Koning HD, Bodar EJ, Van der Meer JW et al. Schnitzler Syndrome Study Group. Schnitzler syndrome beyond the case reports; review and follow‐up of 94 patients with an emphasis on prognosis and treatment. Semin Arthritis Rheum 2007;37:137–48. Cross Ref link Pubmed link
  • 49  De Waele S, Lecouvet FE, Malghem J, et al. Schnitzler's syndrome; an unusual cause of bone pain with suggestive imaging features. Am J Roentgenol 2000;175:1325–7. Cross Ref link
  • 50  Niederhauser BD, Dingli D, Kyle RA, et al. Imaging findings in 22 cases of Schnitzler syndrome – characteristic para‐articular osteosclerosis and the “hot knees” syndrome differential diagnosis. Skeletal Radiol 2014;43:905–15. Cross Ref link Pubmed link
  • 51  Lipsker D, Veran Y, Grunenberger F, et al. The Schnitzler syndrome. Four new cases and review of the literature. Medicine (Baltimore) 2001;80:37–44. Cross Ref link Pubmed link
  • 52  Simon A, Asli B, Braun‐Falco M, et al. Schnitzler's syndrome: diagnosis, treatment, and follow‐up. Allergy 2013;68:562–8. Cross Ref link Pubmed link
  • 53  Pascual‐López M, Hernández‐Núñez A, Sánchez‐Pérez J, Fernández‐Herrera J, García‐Díez A. Schnitzler's syndrome with monoclonal IgG kappa gammopathy: good response to cyclosporin. J Eur Acad Dermatol Venereol 2002;16:267–70. Cross Ref link Pubmed link
  • 54  Asli B, Brouet JC, Fermand JP. Spontaneous remission of Schnitzler syndrome. Ann Allergy Asthma Immunol 2011;107:87–8. Cross Ref link Pubmed link
  • 55  Gerfaud‐Valentin M, Jamilloux Y, Iwaz J, et al. Adult‐onset Still's disease. Autoimmun Rev 2014;13:708–22. Cross Ref link Pubmed link
  • 56  Fortna RR, Gudjonsson JE, Seidel G, et al. persistent papules and plaques: a characteristic histopathologic presentation seen in a subset of patients with adult‐onset and juvenile Still's disease. J Cutan Pathol 2010;37:932–7. Cross Ref link Pubmed link
  • 57  Lee JY, Hsu CK, Liu MF, et al. Evanescent and persistent pruritic eruptions of adult‐onset Still disease: a clinical and pathologic study of 36 patients. Semin Arthritis Rheum 2012;42:317–26. Cross Ref link Pubmed link
  • 58  Yamamoto T. Cutaneous manifestations associated with adult‐onset Still's disease: important diagnostic values. Rheumatol Int 2012;32:2233–7. Cross Ref link Pubmed link
  • 59  Petty RE, Southwood TR, Manners P, et al. International league of associations for rheumatology classification of juvenile idiopathic arthritis: second revision, Edmonton, 2001. J Rheumatol 2004;31:390–2. Pubmed link
  • 60  Martini A. Systemic juvenile idiopathic arthritis. Autoimmun Rev 2012;12:56–65. Cross Ref link Pubmed link
  • 61  Stoll ML, Cron RQ. Treatment of juvenile idiopathic arthritis: a revolution in care. Pediatr Rheumatol Online J 2014;12:13. Cross Ref link Pubmed link
  • 62  Schulert GS, Grom AA. Macrophage activation syndrome and cytokine‐directed therapies. Best Pract Res Clin Rheumatol 2014;28:277–92. Cross Ref link Pubmed link
  • 63  Chamot AM, Benhamou CL, Khan MF, et al. Le syndrome acné pustulose hyperostose ostéite. Résultats d'une enquête nationale; 85 observations. Rev Rhum Mal Osteoartic 1987;54:187–96. Pubmed link
  • 64  Rosner IA, Burg CG, Wisnieski JJ, et al. The clinical spectrum of the arthropathy associated with hidradenitis suppurativa and acne conglobata. J Rheumatol 1993;20:684–7. Pubmed link
  • 65  Huber AM, Lam PY, Duffy CM, et al. Chronic recurrent multifocal osteomyelitis: clinical outcomes after more than five years of follow‐up. J Pediatr 2002;14:198–203. Cross Ref link
  • 66  Acikgoz C, Averill LW. Chronic recurrent multifocal osteomyelitis: typical pattern of bone involvement on whole‐body bone scintigraphy. Nucl Med Commun 2014;35:797–807. Pubmed link
  • 67  Matzaroglou Ch, Vellisaris D, Karageorgos A, et al. SAPHO syndrome diagnosis and treatment; report of five cases and review of the literature. Open Orthop J 2009;3:100–6. Cross Ref link Pubmed link
  • 68  Stern SM, Ferguson PJ. Autoinflammatory bone disease. Rheum Dis Clin North Am 2013;33:735–49. Cross Ref link
  • 69  Colina M, LoMonaco A, Khodeir M, et al. Propionibacterium acnes and SAPHO syndrome: a case report and literature review. Clin Exp Rheumatol 2007;25:457–60. Pubmed link
  • 70  Delattre E, Guillot X, Godfrin‐Valnet M, et al. SAPHO syndrome treatment with intravenous pamidronate; retrospective study of 22 patients. Joint Bone Spine 2014 Oct;81(5):456–8. Cross Ref link Pubmed link
  • 71  Firinu D, Murgia G, Lorrai MM, et al. Biological treatments for SAPHO syndrome: an update. Inflamm Allergy Drug Targets 2014;13:199–205. Cross Ref link Pubmed link
  • 72  Rozin AP. Trends of SAPHO therapy: should we be content? Curr Rheumatol Rev 2013;9:28–33. Cross Ref link Pubmed link
  • 73  Firinu D, Murgia G, Lorrai MM, et al. Biological treatments for SAPHO syndrome: an update. Inflamm Allergy Drug Targets 2014;13:199–205. Cross Ref link Pubmed link