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Monogenic Autoinflammatory Syndromes

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A Clinician's Pearls and Myths in Rheumatology

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Abstract

“Autoinflammatory syndromes” is the broad name given to a group of heritable conditions that initially consisted of a group of diseases termed hereditary periodic fever syndromes. Autoinflammatory syndrome is the preferred name for these conditions, because not all of the disorders that have been added to this class of inflammatory disorde rs present with periodic febrile episodes. In contrast to autoimmune diseases such as systemic lupus erythematosus and rheumatoid arthritis, autoanti-bodies and antigen-specific T cells do not play a role in the pathogenesis of the autoinflammatory syndromes. Although the term autoinflammatory syndrome is now commonly used to include polygenic diseases such as Behcet's syndrome, Still's disease, and even Type 2 diabetes, this chapter addresses the monogenic autoin-flammatory syndromes. These syndromes demonstrate a Mendelian inheritance pattern, and their genetic causes have been identified. The disorders typically present in childhood. The disorders are divided into different clinical syndromes that include mixtures of clinical manifestations in the joints, the bones, the skin, the abdomen, and the lymph nodes.

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References

  • Aganna E, Hammond L, Hawkins PN, et al Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes. Arthritis Rheum. 2003;48(9):2632– 44

    Article  PubMed  CAS  Google Scholar 

  • Agostini L, Martinon F, Burns K, McDermott MF, Hawkins PN, Tschopp J. NALP3 forms an IL-1beta-processing inflammasome with increased activity in Muckle-Wells autoinflammatory disorder. Immunity. 2004;20(3):319– 25

    Article  PubMed  CAS  Google Scholar 

  • Aksentijevich I, Galon J, Soares M, et al The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers. Am J Hum Genet. 2001;69(2):301– 14

    Article  PubMed  CAS  Google Scholar 

  • Aksentijevich I, Nowak M, Mallah M, et al De novo CIAS1 mutations, cytokine activation, and evidence for geneticheterogeneity in patients with neonatal-onset multisystem inflammatory disease. NOMID a new member of the expanding family of pyrin-associated autoin-flammatory diseases. Arthritis Rheum. 2002 46(12):3340Č“8

    Article  PubMed  CAS  Google Scholar 

  • Aksentijevich I, Putnam C, Remmers EF, et al The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model. Arthritis Rheum. 2007;56(4): 1273– 85

    Article  PubMed  CAS  Google Scholar 

  • Aksentijevich I, Torosyan Y, Samuels J, et al Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population. Am J Hum Genet. 1999;64(4):949– 62

    Article  PubMed  CAS  Google Scholar 

  • Al-Mosawi ZS, Al-Saad KK, Ijadi-Maghsoodi R, et al A splice site mutation confirms the role of LPIN2 in Majeed syndrome. Arthritis Rheum. 2007;56:960– 4

    Article  PubMed  CAS  Google Scholar 

  • Altiparmak MR, Pamuk ON, Pamuk GE, et al Amyloid goitre in familial Mediterranean fever: report on three patients and review of the literature. Clin Rheumatol. 2002;21(6):497– 500

    Article  PubMed  CAS  Google Scholar 

  • Ammouri W, Cuisset L, Rouaghe S, et al Diagnostic value of serum immunoglobulinaemia D level in patients with a clinical suspicion of hyper IgD syndrome. Rheumatology. 2007;46(10):1597– 600

    Article  PubMed  CAS  Google Scholar 

  • Arostegui JI, Solis P, Aldea A, et al Etanercept plus colchicine treatment in a child with tumour necrosis factor receptor-associated periodic syndrome abolishes auto-inflammatory episodes without normalising the subclinical acute phase response. Eur J Pediatr. 2005;164(1):13– 6

    Article  PubMed  CAS  Google Scholar 

  • Ben-Chetrit E, Levy M. Reproductive system in familial Mediterranean fever: an overview. Ann Rheum Dis. 2003;62(10):916– 9

    Article  PubMed  CAS  Google Scholar 

  • Brik R, Litmanovitz D, Berkowitz D, et al Incidence of familial Mediterranean fever (FMF) mutations among children of Mediterranean extraction with functional abdominal pain. J Pediatr.2001; 138:759–62

    Article  PubMed  CAS  Google Scholar 

  • Cohen SL, Boner G, Shmueli D, et al Cyclosporin: poorly tolerated in familial Mediterranean fever. Nephrol Dial Transplant. 1989; 4(3):201– 4

    PubMed  CAS  Google Scholar 

  • Cortis E, DeBenedetti F, Insalaco A, Cioschi S, Muratori F, D' Urbano LE, Uqazio AG. Abnormal production of tumor necrosis factor (TNF) — alpha and clinical efficacy of the TNF inhibitor etan-ercept in a patient with PAPA syndrome [corrected]. J Pediatr. 2004;145(6): 851–5

    Article  PubMed  Google Scholar 

  • Cuisset L, Drenth JP, Berthelot JM, et al Genetic linkage of the Muckle-Wells syndrome to chromosome 1q44. Am J Hum Genet. 1999;65(4): 1054–9

    Article  PubMed  CAS  Google Scholar 

  • Delorme N, Drouet M, Thibaudeau A, et al Urticaire au froid. Allergie Et Immunologie. 2002;34(7):255–8

    PubMed  CAS  Google Scholar 

  • Demirkaya E, Caglar MK, Waterham HR, et al A patient with hyper-IgD syndrome responding to anti-TNF treatment. Clin Rheumatol. 2007;26(10):1757–9

    Article  PubMed  Google Scholar 

  • Dierselhuis MP, Frenkel J, Wulfraat NM, et al Anakinra for flares of pyogenic arthritis in PAPA syndrome. Rheumatology. 2005;44: 406–8

    Article  PubMed  CAS  Google Scholar 

  • D'Osualdo A, Ferlito F, Prigione I, et al Neutrophils from patients with TNFRSF1A mutations display resistance to tumor necrosis factor-induced apoptosis — pathogenetic and clinical implications. Arthritis Rheum. 2006;54(3):998–1008

    Article  PubMed  Google Scholar 

  • D' Osualdo A, Picco P, Caroli F, et al MVK mutations and associated clinical features in Italian patients affected with autoinflammatory disorders and recurrent fever. Eur J Hum Genet. 2005;13(3): 314–20

    Article  PubMed  Google Scholar 

  • Drenth JP, Haagsma CJ, van der Meer JW. Hyperimmunoglobulinemia D and periodic fever syndrome. The clinical spectrum in a series of 50 patients. International Hyper-IgD Study Group. Medicine (Baltimore). 1994;73(3):133–44

    CAS  Google Scholar 

  • Duffy CM, Lam PY, Ditchfield M, et al Chronic recurrent multifocal osteomyelitis: review of orthopaedic complications at maturity. J Pediatr Orthop. 2002;22:501–5

    PubMed  Google Scholar 

  • Eleftheriou G, Bacis G, Fiocchi R, et al Colchicine-induced toxicity in a heart transplant patient with chronic renal failure. Clin Toxicol (Phila). 2008;17:1–4

    Google Scholar 

  • El-Shanti H, Majeed HA, El-Khateeb M. Familial mediterranean fever in Arabs. Lancet. 2006;367:1016–24

    Article  PubMed  Google Scholar 

  • Ferguson PJ, Chen S, Tayeh MK, et al Homozygous mutations in LPIN2 are responsible for the syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia (Majeed Syndrome). J Med Genet. 2005;42:551–7

    Article  PubMed  CAS  Google Scholar 

  • Ferguson PJ, El-Shanti HI. Autoinflammatory bone disorders. Curr Opin Immunol. 2007;19:492–8

    CAS  Google Scholar 

  • Fradkin A, Yahav J, Zemer D, et al Colchicine-induced lactose malabsorption in patients with familial Mediterranean fever. Isr J Med Sci. 1995;31:(10): 616–20

    PubMed  CAS  Google Scholar 

  • Galon J, Aksentijevich I, McDermott MF, et al TNF receptor-associated periodic syndromes (TRAPS): Mutations in TNFR1 and early experience with Etanercept therapy. Faseb Journal. 2000;14(6): A1150

    Google Scholar 

  • Gattorno M, Tassi S, Carta S, et al Pattern of interleukin-1beta secretion in response to lipopolysaccharide and ATP before and after interleu-kin-1 blockade in patients with CIAS1 mutations. Arthritis Rheum. 2007;56(9):3138–48

    Article  PubMed  CAS  Google Scholar 

  • Gattorno M, Pelagatti MA, Meini A, et al Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome. Arthritis Rheum. 2008a;58(5):1516–20

    Article  CAS  Google Scholar 

  • Gattorno M, Sormani MP, D'Osualdo A, et al A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children. Arthritis Rheum. 2008b;58(6):1823–32

    Article  CAS  Google Scholar 

  • Girschick HJ, Krauspe R, Tschammler A, et al Chronic recurrent osteomyelitis with clavicular involvement in children: diagnostic value of different imaging techniques and therapy with non-steroidal anti-inflammatory drugs. Eur J Pediatr. 1998;157:28–33

    Article  PubMed  CAS  Google Scholar 

  • Goldbach-Mansky R, Dailey NJ, Canna SW, et al Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition. N Engl J Med. 2006;355(6):581–92

    Article  CAS  Google Scholar 

  • Goldbach-Mansky R, Shroff SD, Wilson M, et al 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 autoin-flammatory syndrome. Arthritis Rheum. 2008;58(8):2432–42

    Article  PubMed  CAS  Google Scholar 

  • Hawkins PN, Lachmann HJ, Aganna E, et al Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra. Arthritis Rheum. 2004;50(2):607–12

    Article  PubMed  CAS  Google Scholar 

  • Hill SC, Namde M, Dwyer A, Poznanski A, et al Arthropathy of neonatal onset multisystem inflammatory disease (NOMID/CINCA). Pediatr Radiol. 2007;37(2):145–52

    Article  PubMed  Google Scholar 

  • Hoffman HM, Gregory SG, Mueller JL, Tresierras M, Broide DH, Wanderer AA, Kolodner RD. Fine structure mapping of CIAS1: identification of an ancestral haplotype and a common FCAS mutation, L353P. Hum Genet. 2003;112(2):209–216

    PubMed  CAS  Google Scholar 

  • Hoffman HM, Mueller JL, Broide DH, et al Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome. Nat Genet. 2001a;29(3):301–5

    Article  CAS  Google Scholar 

  • Hoffman HM, Rosengren S, Boyle DL, et al Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist. Lancet. 2004;364(9447): 1779–85

    Article  PubMed  CAS  Google Scholar 

  • Hoffman HM, Throne ML, Amar NJ, et al Efficacy and safety of rilonacept (interleukin-1 Trap) in patients with cryopyrin-associated periodic syndromes: results from two sequential placebo-controlled studies. Arthritis Rheum. 2008;58(8):2443–52

    Article  PubMed  CAS  Google Scholar 

  • Hoffman HM, Wanderer AA, Broide DH. Familial cold autoinflamma-tory syndrome: phenotype and genotype of an autosomal dominant periodic fever. J Allergy Clin Immunol. 2001b;108(4):615–20

    Article  CAS  Google Scholar 

  • Hoffmann GF, Charpentier C, Mayatepek E, et al Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. Pediatrics. 1993;91(5):915–21

    PubMed  CAS  Google Scholar 

  • Houten SM, Kuis W, Duran M, et al Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nature Genetics. 1999;22(2):175–7

    Article  PubMed  CAS  Google Scholar 

  • Huggins ML, Radford PM, McIntosh RS, et al Shedding of mutant tumor necrosis factor receptor superfamily 1A associated with tumor necrosis factor receptor-associated periodic syndrome: differences between cell types. Arthritis Rheum. 2004;50(8):2651–9

    Article  PubMed  CAS  Google Scholar 

  • Hull KM, Drewe E, Aksentijevich I, et al The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflam-matory disorder. Medicine (Baltimore). 2002;81(5):349–68

    Article  CAS  Google Scholar 

  • Jacobelli S, Andre M, Alexandra JF, et al Failure of anti-TNF therapy in TNF Receptor 1-Associated Periodic Syndrome (TRAPS). Rheumatology (Oxford). 2007;46(7):1211–2

    Article  CAS  Google Scholar 

  • Kallinich T, Haffner D, Niehues T, et al Colchicine use in children and adolescents with familial Mediterranean fever: literature review and consensus statement. Pediatrics. 2007;119(2):e474–83

    Article  PubMed  Google Scholar 

  • Kallinich T, Haffner D, Rudolph B, et al “Periodic fever” without fever: two cases of non-febrile TRAPS with mutations in the TNFRSF1A gene presenting with episodes of inflammation or monosymptom-atic amyloidosis. Ann Rheum Dis. 2006;65(7):958–60

    Article  PubMed  CAS  Google Scholar 

  • Kastner D. Familial Mediterranean fever. In: Fauci A, Braunwald E, Kasper D, Hauser SL, Longo DL, Jameson L, Loscalzo J, editors. Harrison' s principle of internal medicine. 17th ed. USA: McGraw-Hill; 2008

    Google Scholar 

  • Kavukçu S, TĂĽrkmen M, EroÄźlu Y, et al Renal, gastric and thyroidal amyloidosis due to familial Mediterranean fever. Pediatr Nephrol. 1997;11(2):210–2

    Article  PubMed  Google Scholar 

  • Kilcline C, Shinkai K, Bree A, et al Neonatal-onset multisystem inflam-matory disorder: the emerging role of pyrin genes in autoinflamma-tory diseases. Arch Dermatol. 2005;141(2):248–53

    Article  PubMed  CAS  Google Scholar 

  • Labro MT. Macrolide antibiotics: current and future uses. Expert Opin Pharmacother. 2004;5:541–50

    Article  PubMed  CAS  Google Scholar 

  • Lachmann HJ, Sengul B, Yavuzsen TU, et al Clinical and subclinical inflammation in patients with familial Mediterranean fever and in heterozygous carriers of MEFV mutations. Rheumatology (Oxford). 2006;45:746–50

    Article  CAS  Google Scholar 

  • Leslie KS, Lachmann HJ, Bruning E, et al Phenotype, genotype, and sustained response to anakinra in 22 patients with autoinflammatory disease associated with CIAS-1/NALP3 mutations. Arch Dermatol. 2006;142(12):1591–7

    Article  PubMed  CAS  Google Scholar 

  • Majeed HA, Al-Tarawna M, El-Shanti H, et al The syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anaemia. Report of a new family and a review. Eur J Pediatr. 2001;160:705–10

    PubMed  CAS  Google Scholar 

  • Majeed HA, El-Shanti H, Al-Rimawi H, et al On mice and men: an autosomal recessive syndrome of chronic recurrent multifocal osteomyelitis and congenital dyserythropoietic anemia. J Pediatr. 2000;137:441–2

    PubMed  CAS  Google Scholar 

  • Majeed HA, Kalaawi M, Mohanty D, et al Congenital dyserythropoi-etic anemia and chronic recurrent multifocal osteomyelitis in three related children and the association with Sweet syndrome in two siblings. J Pediatr. 1989;115:730–4

    Article  PubMed  CAS  Google Scholar 

  • McDermott MF, Aksentijevich I, Galon J, et al ermline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell. 1999;97(1):133–44

    Article  PubMed  CAS  Google Scholar 

  • Mimouni A, Magal N, Stoffman N, et al Familial Mediterranean fever: effects of genotype and ethnicity on inflammatory attacks and amy-loidosis. Pediatrics. 2000;105(5):E70

    Article  PubMed  CAS  Google Scholar 

  • Minetti EE, Minetti L. Multiple organ failure in a kidney transplant patient receiving both colchicine and cyclosporine. J Nephrol. 2003;16(3):421–5

    PubMed  Google Scholar 

  • Neittaanmäki H. Cold urticaria. Clinical findings in 220 patients. J Am Acad Dermatol. 1985;13(4):636–44

    Article  PubMed  Google Scholar 

  • Neven B, Callebaut I, Prieur AM, et al Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cellmediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU. Blood. 2004;103(7):2809–15

    Article  PubMed  CAS  Google Scholar 

  • Novack DV, Faccio R. Jawing about TNF: new hope for cherubism. Cell. 2007;128:15–7

    Article  PubMed  CAS  Google Scholar 

  • Prieur AM, Griscelli C, Lampert F, et al A chronic, infantile, neurological, cutaneous and articular (CINCA) syndrome. A specific entity analysed in 30 patients. Scand J Rheumatol. 1987;66 Suppl:57–68

    Article  CAS  Google Scholar 

  • Prieur AM. A recently recognised chronic inflammatory disease of early onset characterized by the triad of rash, central nervous system involvement and arthropathy. Clin Exp Rheumatol. 2001;19(1): 103–6

    PubMed  CAS  Google Scholar 

  • Rynne M, Maclean C, Bybee A, et al Hearing improvement in a patient with variant Muckle-Wells syndrome in response to interleukin 1 receptor antagonism. Ann Rheum Dis. 2006;65:533–4

    Article  PubMed  CAS  Google Scholar 

  • Saito M, Nishikomori R, Kambe N, Fujisawa A, Tanizaki H, et al Disease-associated CIAS1 mutations induce monocyte death, revealing low-level mosaicism in mutation-negative cryopyrin-asso-ciated periodic syndrome patients. Blood. 2008;111(4):2132–41

    Article  PubMed  CAS  Google Scholar 

  • 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(4):268–97

    Article  CAS  Google Scholar 

  • Sato TS, Khanna G, Ferguson PJ. Primary multifocal osseous lymphoma in a child. Pediatr Radiol. 2008;38:1338–41

    Article  PubMed  Google Scholar 

  • Schilling F, Wagner AD. Azithromycin: an anti-inflammatory effect in chronic recurrent multifcal osteomyelitis? A preliminary report. Z Rheumatol. 2000;59:352–3

    Article  CAS  Google Scholar 

  • Shinkai K, McCalmont TH, Leslie KS. Cryopyrin-associated periodic syndromes and autoinflammation. Clin Exp Dermatol. 2008;33(1): 1–9

    PubMed  CAS  Google Scholar 

  • Shoham NG, Centola M, Mansfield E, et al Pyrin binds the PSTPIP1/ CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway. Proc Natl Acad Sci U S A.. 2003;100(23):13501–6

    Article  PubMed  CAS  Google Scholar 

  • Siewert R, Ferber J, Horstmann RD, et al Hereditary periodic fever with systemic amyloidosis: is hyper-IgD syndrome really a benign disease? Am J Kidney Dis. 2006;48(3):e41–5

    Article  PubMed  Google Scholar 

  • Simon A, Bodar EJ, van der Hilst JC, et al Beneficial response to inter-leukin 1 receptor antagonist in TRAPS. Am J Med. 2004a;117(3): 208–10

    Article  CAS  Google Scholar 

  • Simon A, Kremer HP, Wevers RA, et al Mevalonate kinase deficiency: Evidence for a phenotypic continuum. Neurol. 2004b;62(6):994–7

    Article  CAS  Google Scholar 

  • Speeg K V, Maldonado AL, Liaci J, et al Effect of cyclosporine on colchicine secretion by the kidney multidrug transporter studied in vivo. J Pharmacol Exp Ther. 1992;261(1):50–5

    PubMed  CAS  Google Scholar 

  • Stankovic K, Grateau G. Auto inflammatory syndromes: Diagnosis and treatment. Joint Bone Spine. 2007;74:544–50

    Article  PubMed  Google Scholar 

  • Stichweh DS, Punaro M, Pascual V. Dramtic improvement of pyoderma gangrenosum with infliximab in a patient with PAPA syndrome. Pediatr Dermatol. 2005;22(3):262–5

    Article  PubMed  Google Scholar 

  • 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(4):307–10

    Article  PubMed  CAS  Google Scholar 

  • Stojanov S, Kastner DL. Familial autoinflammatory diseases: Genetics, pathogenesis and treatment. Curr Opin Rheumatol. 2005;17(5): 586–99

    Article  PubMed  CAS  Google Scholar 

  • Tallon B, Corkill M. Peculiarities of PAPA syndrome. Rheumatology. 2006;45:1140–3

    Article  PubMed  CAS  Google Scholar 

  • The French FMF Consortium. A candidate gene for familial Mediterranean fever. Nat Genet. 1997;17(1):25–31

    Article  Google Scholar 

  • The International FMF Consortium. Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell. 1997;90(4):797–807

    Article  Google Scholar 

  • Thornton BD, Hoffman HM, Bhat A, Don BR. Am J Kidney Dis. 2007;49:477–81

    Article  PubMed  Google Scholar 

  • Touitou I, Sarkisian T, Medlej-Hashim M, et al Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever. Arthritis Rheum. 2007;56(5):1706–12

    Article  PubMed  Google Scholar 

  • Ueki Y, Lin CY, Senoo M, et al Increased myeloid cell responses to M-CSF and RANKL cause bone loss and inflammation in SH3BP2 “cherubism” mice. Cell. 2007;128:71–83

    Article  CAS  Google Scholar 

  • Ueki Y, Tiziani V, Santanna C, et al Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism. Nat Genet. 2001;28:125–6

    Article  PubMed  CAS  Google Scholar 

  • van der Hilst J, Bodar E, Barron K, et al Follow-up, clinical features, and quality of life in 10.3 patients with HyperImmunoglubulin D syndrome. Clin Exp Rheumatol. 2008;26(2):180

    Google Scholar 

  • van der Meer JW, Vossen JM, Radl J, et al Hyperimmunoglobulinaemia D and periodic fever: a new syndrome. Lancet. 1984;1(8386): 1087–90

    Article  PubMed  Google Scholar 

  • Williamson LM, Hull D, Mehta R, et al Familial Hibernian fever. Q J Med. 1982;1(204):469–80

    Google Scholar 

  • Yamazaki T, Masumoto J, Agematsu K, et al Anakinra improves sensory deafness in a Japanese patient with Muckle-Wells syndrome,possibly by inhibiting the cryopyrin inflammasome. Arthritis Rheum. 2008;58(3):864–8

    Article  PubMed  CAS  Google Scholar 

  • Yarom A, Rennebohm RM, Levinson JE. Infantile multisystem inflam-matory disease: a specific syndrome? J Pediatr. 1985;106(3): 390–6

    Article  PubMed  CAS  Google Scholar 

  • Yildiz A, Akkaya V, Kiliçaslan I, et al Cardiac and intestinal amyloido-sis in a renal transplant recipient with familial Mediterranean fever. J Nephrol. 2001;14(2):125–7

    PubMed  CAS  Google Scholar 

  • Yu JW, Fernandes-Alnemri T, Datta P, et al Pyrin activates the ASC pyroptosome in response to engagement by autoinflammatory PSTPIP1 mutants. Mol Cell. 2007;28:214–227

    Article  PubMed  CAS  Google Scholar 

  • Meng XM et al. Clinicopathologic study of 24 cases of cherubism. Int J Oral Maxillofac Surg. 2005;34:350–6

    Article  PubMed  Google Scholar 

  • Jain V, Sharma R. Radiographic, CT and MRI features of cherubism. Pediatr Radiol. 2006;36(10):1099–104

    Article  PubMed  Google Scholar 

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Acknowledgment

We would like to thank Dr. Daniel Kastner for sharing his expertise and suggestions for the myths and pearls in the FMF section.

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Authors and Affiliations

  1. Instituto G. Gaslini, University of Genova, Pediatria H, Genova, 16147, Italy

    Marco Gattorno & Alberto Martini

  2. National Institute of Arthritis & Musculoskeletal Disease, National Institutes of Health, 10 Center Drive, Bethesda, Maryland, 20892-1828, USA

    Raphaela Goldbach-Mansky & Pamela Aubert

  3. Department of Pediatrics / Rheumatology, Children's Hospital of Iowa, 200 Hawkins Drive 2534JCP, Iowa City, Iowa, 52242

    Polly J. Ferguson

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  1. Marco Gattorno
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  2. Alberto Martini
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Editors and Affiliations

  1. Clinical Rheumatology, Massachusetts General Hospital, 55 Fruit Street / Yawkey 2, Boston, MA, 02114

    John H. Stone (Director) (Director)

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Gattorno, M., Martini, A., Goldbach-Mansky, R., Aubert, P., Ferguson, P.J. (2009). Monogenic Autoinflammatory Syndromes. In: Stone, J.H. (eds) A Clinician's Pearls and Myths in Rheumatology. Springer, London. https://doi.org/10.1007/978-1-84800-934-9_5

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