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Autoinflammatory Disorders

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Clinical Cases in Primary Immunodeficiency Diseases

Abstract

Originally, autoinflammatory diseases were defined as conditions characterized by seemingly unprovoked episodes of inflammation, without high titres of autoantibodies or antigen-specific T-cells [1]. Recently, a new definition has been proposed in which autoinflammatory diseases are defined as “clinical disorders marked by abnormally increased inflammation, mediated predominantly by cells and molecules of the innate immune system, with a significant host predisposition [2].” These patients experience lifelong recurrent episodes of inflammation, associated with fever in most cases and other symptoms such as malaise, arthralgia, abdominal pain, and skin rash. Between the episodes, the patients often are free of symptoms [3].

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References

  1. McDermott MF, Aksentijevich I, Galon J, McDermott EM, Ogunkolade BW, Centola M, Mansfield E, Gadina M, Karenko L, Pettersson T, McCarthy J, Frucht DM, Aringer M, Torosyan Y, Teppo AM, Wilson M, Karaarslan HM, Wan Y, Todd I, Wood G, Schlimgen R, Kumarajeewa TR, Cooper SM, Vella JP, Amos CI, Mulley J, Quane KA, Molloy MG, Ranki A, Powell RJ, Hitman GA, O’Shea JJ, Kastner DL (1999) Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell 97(1):133–144

    Article  PubMed  CAS  Google Scholar 

  2. Kastner DL, Aksentijevich I, Goldbach-Mansky R (2010) Autoinflammatory disease reloaded: a clinical perspective. Cell 140(6):784–790

    Article  PubMed  CAS  Google Scholar 

  3. Touitou I, Kone-Paut I (2008) Autoinflammatory diseases. Best Pract Res Clin Rheumatol 22(5):811–829

    Article  PubMed  CAS  Google Scholar 

  4. Masters SL, Simon A, Aksentijevich I, Kastner DL (2009) Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease. Annu Rev Immunol 27:621–668

    Article  PubMed  CAS  Google Scholar 

  5. Yao Q, Furst DE (2008) Autoinflammatory diseases: an update of clinical and genetic aspects. Rheumatology (Oxford) 47(7):946–951

    Article  CAS  Google Scholar 

  6. Shohat M, Halpern GJ (2011) Familial Mediterranean Fever - a review. Genet Med 13(6):487–498

    Google Scholar 

  7. Dinarello CA (2011) Interleukin-1 in the pathogenesis and treatment of inflammatory diseases. Blood 117(14):3720–3732

    Article  PubMed  CAS  Google Scholar 

  8. Livneh A, Langevitz P, Zemer D, Zaks N, Kees S, Lidar T, Migdal A, Padeh S, Pras M (1997) Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum 40(10):1879–1885

    Article  PubMed  CAS  Google Scholar 

  9. Yalcinkaya F, Ozen S, Ozcakar ZB, Aktay N, Cakar N, Duzova A, Kasapcopur O, Elhan AH, Doganay B, Ekim M, Kara N, Uncu N, Bakkaloglu A (2009) A new set of criteria for the diagnosis of familial Mediterranean fever in childhood. Rheumatology (Oxford) 48(4):395–398

    Article  Google Scholar 

  10. Gattorno M, Federici S, Pelagatti MA, Caorsi R, Brisca G, Malattia C, Martini A (2008) Diagnosis and management of autoinflammatory diseases in childhood. J Clin Immunol 28(Suppl 1):S73–S83

    Article  PubMed  Google Scholar 

  11. Samuels J, Ozen S (2006) Familial Mediterranean fever and the other autoinflammatory ­syndromes: evaluation of the patient with recurrent fever. Curr Opin Rheumatol 18(1):108–117

    Article  PubMed  Google Scholar 

  12. Berg S, Fasth A (2008) Autoinflammatory disorders. In: Rezaei N, Aghamohammadi A, Notarangelo LD (eds) Primary immunodeficiency diseases. Springer, Berlin/Heidelberg, pp 215–233

    Chapter  Google Scholar 

  13. Goldfinger SE (1972) Colchicine for familial Mediterranean fever. N Engl J Med 287(25):1302

    PubMed  CAS  Google Scholar 

  14. Majeed HA, El-Shanti H, Al-Khateeb MS, Rabaiha ZA (2002) Genotype/phenotype correlations in Arab patients with familial Mediterranean fever. Semin Arthritis Rheum 31(6):371–376

    Article  PubMed  Google Scholar 

  15. Kallinich T, Haffner D, Niehues T, Huss K, Lainka E, Neudorf U, Schaefer C, Stojanov S, Timmann C, Keitzer R, Ozdogan H, Ozen S (2007) Colchicine use in children and adolescents with familial Mediterranean fever: literature review and consensus statement. Pediatrics 119(2):e474–e483

    Article  PubMed  Google Scholar 

  16. Berkun Y, Padeh S, Reichman B, Zaks N, Rabinovich E, Lidar M, Shainberg B, Livneh A (2007) A single testing of serum amyloid a levels as a tool for diagnosis and treatment dilemmas in familial Mediterranean fever. Semin Arthritis Rheum 37(3):182–188

    Article  PubMed  CAS  Google Scholar 

  17. Roldan R, Ruiz AM, Miranda MD, Collantes E (2008) Anakinra: new therapeutic approach in children with Familial Mediterranean Fever resistant to colchicine. Joint Bone Spine 75(4):504–505

    Article  PubMed  Google Scholar 

  18. Marek-Yagel D, Berkun Y, Padeh S, Abu A, Reznik-Wolf H, Livneh A, Pras M, Pras E (2009) Clinical disease among patients heterozygous for familial Mediterranean fever. Arthritis Rheum 60(6):1862–1866

    Article  PubMed  CAS  Google Scholar 

  19. Booty MG, Chae JJ, Masters SL, Remmers EF, Barham B, Le JM, Barron KS, Holland SM, Kastner DL, Aksentijevich I (2009) Familial Mediterranean fever with a single MEFV mutation: where is the second hit? Arthritis Rheum 60(6):1851–1861

    Article  PubMed  CAS  Google Scholar 

  20. Yuval Y, Hemo-Zisser M, Zemer D, Sohar E, Pras M (1995) Dominant inheritance in two families with familial Mediterranean fever (FMF). Am J Med Genet 57(3):455–457

    Article  PubMed  CAS  Google Scholar 

  21. Ben-Chetrit E, Touitou I (2009) Familial Mediterranean Fever in the world. Arthritis Rheum 61(10):1447–1453

    Article  PubMed  CAS  Google Scholar 

  22. Touitou I (2001) The spectrum of Familial Mediterranean Fever (FMF) mutations. Eur J Hum Genet 9(7):473–483

    Article  PubMed  CAS  Google Scholar 

  23. Kile RL, Rusk HA (1940) A case of cold urticaria with an unusual family history. JAMA 114:1067–1068

    Article  Google Scholar 

  24. Hoffman HM, Wanderer AA, Broide DH (2001) Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever. J Allergy Clin Immunol 108(4):615–620

    Article  PubMed  CAS  Google Scholar 

  25. Poonawalla T, Kelly B (2009) Urticaria: a review. Am J Clin Dermatol 10(1):9–21

    Article  PubMed  Google Scholar 

  26. Kaplan AP, Greaves M (2009) Pathogenesis of chronic urticaria. Clin Exp Allergy 39(6):777–787

    Article  PubMed  CAS  Google Scholar 

  27. 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(3):301–305

    Article  PubMed  CAS  Google Scholar 

  28. Feldmann J, Prieur AM, Quartier P, Berquin P, Certain S, Cortis E, Teillac-Hamel D, Fischer A, de Basile Saint G (2002) Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes. Am J Hum Genet 71(1):198–203

    Article  PubMed  CAS  Google Scholar 

  29. Hawkins PN, Lachmann HJ, Aganna E, McDermott MF (2004) Spectrum of clinical features in Muckle-Wells syndrome and response to anakinra. Arthritis Rheum 50(2):607–612

    Article  PubMed  CAS  Google Scholar 

  30. Hoffman HM, Rosengren S, Boyle DL, Cho JY, Nayar J, Mueller JL, Anderson JP, Wanderer AA, Firestein GS (2004) Prevention of cold-associated acute inflammation in familial cold autoinflammatory syndrome by interleukin-1 receptor antagonist. Lancet 364(9447):1779–1785

    Article  PubMed  CAS  Google Scholar 

  31. Lachmann HJ, Kone-Paut I, Kuemmerle-Deschner JB, Leslie KS, Hachulla E, Quartier P, Gitton X, Widmer A, Patel N, Hawkins PN (2009) Use of canakinumab in the cryopyrin-­associated periodic syndrome. N Engl J Med 360(23):2416–2425

    Article  PubMed  CAS  Google Scholar 

  32. Aksentijevich I, DPutnam C, Remmers EF, Mueller JL, Le J, Kolodner RD, Moak Z, Chuang M, Austin F, Goldbach-Mansky R, Hoffman HM, Kastner DL (2007) The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model. Arthritis Rheum 56(4):1273–1285

    Article  PubMed  CAS  Google Scholar 

  33. Martinon F, Petrilli V, Mayor A, Tardivel A, Tschopp J (2006) Gout-associated uric acid crystals activate the NALP3 inflammasome. Nature 440(7081):237–241

    Article  PubMed  CAS  Google Scholar 

  34. So A, De Smedt T, Revaz S, Tschopp J (2007) A pilot study of IL-1 inhibition by anakinra in acute gout. Arthritis Res Ther 9(2):R28

    Article  PubMed  Google Scholar 

  35. Larsen CM, Faulenbach M, Vaag A, Volund A, Ehses JA, Seifert B, Mandrup-Poulsen T, Donath MY (2007) Interleukin-1-receptor antagonist in type 2 diabetes mellitus. N Engl J Med 356(15):1517–1526

    Article  PubMed  CAS  Google Scholar 

  36. Dostert C, Petrilli V, Van Bruggen R, Steele C, Mossman BT, Tschopp J (2008) Innate immune activation through Nalp3 inflammasome sensing of asbestos and silica. Science 320(5876):674–677

    Article  PubMed  CAS  Google Scholar 

  37. Chae JJ, Cho YH, Lee GS, Cheng J, Liu PP, Feigenbaum L, Katz SI, Kastner DL (2011) Gain-of-function Pyrin mutations induce NLRP3 protein-independent interleukin-1beta activation and severe autoinflammation in mice. Immunity 34(5):755–768

    Article  PubMed  CAS  Google Scholar 

  38. Simon A, van der Meer JW, Vesely R, Myrdal U, Yoshimura K, Duys P, Drenth JP (2006) Approach to genetic analysis in the diagnosis of hereditary autoinflammatory syndromes. Rheumatology (Oxford) 45(3):269–273

    Article  CAS  Google Scholar 

  39. Dale DC, Person RE, Bolyard AA, Aprikyan AG, Bos C, Bonilla MA, Boxer LA, Kannourakis G, Zeidler C, Welte K, Benson KF, Horwitz M (2000) Mutations in the gene encoding neutrophil elastase in congenital and cyclic neutropenia. Blood 96(7):2317–2322

    PubMed  CAS  Google Scholar 

  40. Thomas KT, Feder HM Jr, Lawton AR, Edwards KM (1999) Periodic fever syndrome in children. J Pediatr 135(1):15–21

    Article  PubMed  CAS  Google Scholar 

  41. Gattorno M, Sormani MP, D’Osualdo A, Pelagatti MA, Caroli F, Federici S, Cecconi M, Solari N, Meini A, Zulian F, Obici L, Breda L, Martino S, Tommasini A, Bossi G, Govers A, Touitou I, Woo P, Frenkel J, Kone-Paut I, Baldi M, Ceccherini I, Martini A (2008) A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children. Arthritis Rheum 58(6):1823–1832

    Article  PubMed  CAS  Google Scholar 

  42. Gattorno M, Caorsi R, Meini A, Cattalini M, Federici S, Zulian F, Cortis E, Calcagno G, Tommasini A, Consolini R, Simonini G, Pelagatti MA, Baldi M, Ceccherini I, Plebani A, Frenkel J, Sormani MP, Martini A (2009) Differentiating PFAPA syndrome from monogenic periodic fevers. Pediatrics 124(4):e721–e728

    Article  PubMed  Google Scholar 

  43. Grateau G (2004) Clinical and genetic aspects of the hereditary periodic fever syndromes. Rheumatology (Oxford) 43(4):410–415

    Article  CAS  Google Scholar 

  44. Padeh S, Brezniak N, Zemer D, Pras E, Livneh A, Langevitz P, Migdal A, Pras M, Passwell JH (1999) Periodic fever, aphthous stomatitis, pharyngitis, and adenopathy syndrome: clinical characteristics and outcome. J Pediatr 135(1):98–101

    Article  PubMed  CAS  Google Scholar 

  45. Houten SM, Kuis W, Duran M, de Koning TJ, van Royen-Kerkhof A, Romeijn GJ, Frenkel J, Dorland L, de Barse MM, Huijbers WA, Rijkers GT, Waterham HR, Wanders RJ, Poll-The BT (1999) Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nat Genet 22(2):175–177

    Article  PubMed  CAS  Google Scholar 

  46. Drenth JP, Cuisset L, Grateau G, Vasseur C, van de Velde-Visser SD, de Jong JG, Beckmann JS, van der Meer JW, Delpech M (1999) Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. International Hyper-IgD Study Group. Nat Genet 22(2):178–181

    Article  PubMed  CAS  Google Scholar 

  47. Renko M, Salo E, Putto-Laurila A, Saxen H, Mattila PS, Luotonen J, Ruuskanen O, Uhari M (2007) A randomized, controlled trial of tonsillectomy in periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome. J Pediatr 151(3):289–292

    Article  PubMed  CAS  Google Scholar 

  48. Garavello W, Romagnoli M, Gaini RM (2009) Effectiveness of adenotonsillectomy in PFAPA syndrome: a randomized study. J Pediatr 155(2):250–253

    Article  PubMed  Google Scholar 

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Author information

Authors and Affiliations

  1. Department of Pediatrics, University of Gothenburg and NU-Hospital Organization, Uddevalla, Sweden

    Per Wekell M.D.

  2. Department of Pediatrics, University of Goteborg and the Queen Silvia Children’s Hospital, Goteborg, Sweden

    Anders Fasth M.D., Ph.D. & Stefan Berg M.D., Ph.D.

Authors
  1. Per Wekell M.D.
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  2. Anders Fasth M.D., Ph.D.
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  3. Stefan Berg M.D., Ph.D.
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Correspondence to Per Wekell M.D. .

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Editors and Affiliations

  1. Research Center for Immunodeficiencies, Children's Medical Center Hospital, Tehran University of Medical Sciences, Qarib St, Keshavarz Blvd, Tehran, 14194, Iran

    Asghar Aghamohammadi

  2. Research Center for Immunodeficiencies, Children's Medical Center Hospital, Tehran University of Medical Sciences, Qarib St, Keshavarz Blvd, Tehran, 14194, Iran

    Nima Rezaei

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Wekell, P., Fasth, A., Berg, S. (2012). Autoinflammatory Disorders. In: Aghamohammadi, A., Rezaei, N. (eds) Clinical Cases in Primary Immunodeficiency Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-31785-9_7

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