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Autoinflammatory Diseases

  • Min Shen
  • Di Wu
  • Qingping YaoEmail author
Chapter

Abstract

Autoinflammatory diseases (AIDs) are a relatively new group of rheumatic and inflammatory diseases. They are distinct from systemic autoimmune diseases and generally have no detectable autoantibodies. Among this group of disorders are hereditary monogenic periodic fever syndromes and polygenic/complex autoinflammatory diseases. In this chapter, we have discussed the pathophysiology, clinical phenotypes, diagnosis, and treatment of each of the classic monogenic autoinflammatory diseases and some complex autoinflammatory diseases.

Keywords

Autoinflammatory disease Periodic fever syndrome Familial Mediterranean fever Cryopyrin-associated periodic syndrome TNF receptor-associated periodic fever syndrome Hyper-IgD syndrome Nucleotide-binding oligomerization domain 2 Blau syndrome Yao syndrome 

References

  1. 1.
    Firestein GS, Budd RC, Gabriel SE, et al. Kelley and Firestein’s textbook of rheumatology. 10th ed. Philadelphia, PA: Elsevier; 2016.Google Scholar
  2. 2.
    Silman AJ, Hochberg MC, Smolen JS, et al. Rheumatology. 7th ed. Philadelphia, PA: Elsevier; 2018.Google Scholar
  3. 3.
    West SG. Rheumatology secrets, 3rd ed. London, UK: Mosby; 2014.Google Scholar
  4. 4.
    Aksentijevich I. Update on genetics and pathogenesis of autoinflammatory diseases: the last 2 years. Semin Immunopathol. 2015;37(4):395–401.CrossRefGoogle Scholar
  5. 5.
    Kastner DL, Aksentijevich I, Goldbach-Mansky R. Autoinflammatory disease reloaded: a clinical perspective. Cell. 2010;140(6):784–90.CrossRefGoogle Scholar
  6. 6.
    Ben-Chetrit E, Gattorno M, Gul A, et al. Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDs): a Delphi study. Ann Rheum Dis. 2018;77(11):1558–65.CrossRefGoogle Scholar
  7. 7.
    Alghamdi M. Familial Mediterranean fever, review of the literature. Clin Rheumatol. 2017;36(8):1707–13.CrossRefGoogle Scholar
  8. 8.
    Padeh S, Berkun Y. Familial Mediterranean fever. Curr Opin Rheumatol. 2016;28(5):523–9.CrossRefGoogle Scholar
  9. 9.
    Giancane G, Ter HNM, Wulffraat N, et al. Evidence-based recommendations for genetic diagnosis of familial Mediterranean fever. Ann Rheum Dis. 2015;74(4):635–41.CrossRefGoogle Scholar
  10. 10.
    Livneh A, Langevitz P, Zemer D, et al. Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum. 1997;40(10):1879–85.CrossRefGoogle Scholar
  11. 11.
    Ozen S, Demirkaya E, Erer B, et al. EULAR recommendations for the management of familial Mediterranean fever. Ann Rheum Dis. 2016;75(4):644–51.CrossRefGoogle Scholar
  12. 12.
    ter Haar NM, Oswald M, Jeyaratnam J, et al. Recommendations for the management of autoinflammatory diseases. Ann Rheum Dis. 2015;74(9):1636–44.CrossRefGoogle Scholar
  13. 13.
    Miyamae T. Cryopyrin-associated periodic syndromes: diagnosis and management. Paediatr Drugs. 2012;14(2):109–17.CrossRefGoogle Scholar
  14. 14.
    Kuemmerle-Deschner JB, Ozen S, Tyrrell PN, et al. Diagnostic criteria for cryopyrin-associated periodic syndrome (CAPS). Ann Rheum Dis. 2017;76(6):942–7.CrossRefGoogle Scholar
  15. 15.
    Landmann EC, Walker UA. Pharmacological treatment options for cryopyrin-associated periodic syndromes. Expert Rev Clin Pharmacol. 2017;10(8):855–64.CrossRefGoogle Scholar
  16. 16.
    Borghini S, Tassi S, Chiesa S, et al. Clinical presentation and pathogenesis of cold-induced autoinflammatory disease in a family with recurrence of an NLRP12 mutation. Arthritis Rheum. 2011;63(3):830–9.CrossRefGoogle Scholar
  17. 17.
    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(5):1459–64.CrossRefGoogle Scholar
  18. 18.
    De Pieri C, Vuch J, Athanasakis E, et al. F402L variant in NLRP12 in subjects with undiagnosed periodic fevers and in healthy controls. Clin Exp Rheumatol. 2014;32(6):993–4.PubMedGoogle Scholar
  19. 19.
    Vitale A, Rigante D, Maggio MC, et al. Rare NLRP12 variants associated with the NLRP12-autoinflammatory disorder phenotype: an Italian case series. Clin Exp Rheumatol. 2013;31(3 suppl 77):155–6.PubMedGoogle Scholar
  20. 20.
    Shen M, Tang L, Shi X, et al. NLRP12 autoinflammatory disease: a Chinese case series and literature review. Clin Rheumatol. 2017;36(7):1661–7.CrossRefGoogle Scholar
  21. 21.
    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(3 Suppl 77):141–9.PubMedGoogle Scholar
  22. 22.
    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(12):2160–7.CrossRefGoogle Scholar
  23. 23.
    Ueda N, Ida H, Washio M, et al. Clinical and genetic features of patients with TNFRSF1A variants in Japan: findings of a nationwide survey. Arthritis Rheumatol. 2016;68(11):2760–71.CrossRefGoogle Scholar
  24. 24.
    van der Hilst JC, Frenkel J. Hyperimmunoglobulin D syndrome in childhood. Curr Rheumatol Rep. 2010;12(2):101–7.CrossRefGoogle Scholar
  25. 25.
    Mulders-Manders CM, Simon A. Hyper-IgD syndrome/mevalonate kinase deficiency: what is new. Semin Immunopathol. 2015;37(4):371–6.CrossRefGoogle Scholar
  26. 26.
    Esposito S, Ascolese B, Senatore L, et al. Current advances in the understanding and treatment of mevalonate kinase deficiency. Int J Immunopathol Pharmacol. 2014;27(4):491–8.CrossRefGoogle Scholar
  27. 27.
    Federici S, Sormani MP, Ozen S, et al. Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers. Ann Rheum Dis. 2015;74(5):799–805.CrossRefGoogle Scholar
  28. 28.
    Sfriso P, Caso F, Tognon S, Galozzi P, Gava A, Punzi L. Blau syndrome, clinical and genetic aspects. Autoimmun Rev. 2012;12(1):44–51.CrossRefGoogle Scholar
  29. 29.
    Rosé CD, Pans S, Casteels I, et al. Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes. Rheumatology (Oxford). 2015;54(6):1008–16.CrossRefGoogle Scholar
  30. 30.
    Wouters CH, Maes A, Foley KP, Bertin J, Rose CD. Blau syndrome, the prototypic auto-inflammatory granulomatous disease. Pediatr Rheumatol Online J. 2014;12:33.CrossRefGoogle Scholar
  31. 31.
    Yao Q, Shen M, McDonald C, et al. NOD2-associated autoinflammatory disease: a large cohort study. Rheumatology (Oxford). 2015;54(10):1904–12.CrossRefGoogle Scholar
  32. 32.
    Yao Q. Nucleotide-binding oligomerization domain containing 2: structure, function, and diseases. Semin Arthritis Rheum. 2013;43(1):125–30.CrossRefGoogle Scholar
  33. 33.
    McDonald C, Shen M, Johnson EE, et al. Alterations in nucleotide-binding oligomerization domain-2 expression, pathway activation, and cytokine production in Yao syndrome. Autoimmunity. 2018;51(2):53–61.CrossRefGoogle Scholar
  34. 34.
    Yao Q, Su LC, Tomecki KJ, et al. Dermatitis as a characteristic phenotype of a new autoinflammatory disease associated with NOD2 mutations. J Am Acad Dermatol. 2013;68(4):624–31.CrossRefGoogle Scholar
  35. 35.
    Yang X, Wu D, Li J, Shen M. A Chinese case series of Yao syndrome and literature review. Clin Rheumatol. 2018;37(12):3449–54.CrossRefGoogle Scholar
  36. 36.
    Yao Q, Shen B. A systematic analysis of treatment and outcomes of NOD2-associated autoinflammatory disease. Am J Med. 2017;130(3):365.e13–8.CrossRefGoogle Scholar
  37. 37.
    Yao Q, Lacbawan F, Li J. Adult autoinflammatory disease frequency and our diagnostic experience in an Adult Autoinflammatory Clinic. Semin Arthritis Rheum. 2016;45(5):633–7.CrossRefGoogle Scholar
  38. 38.
    Crow YJ, Casanova JL. STING-associated vasculopathy with onset in infancy--a new interferonopathy. N Engl J Med. 2014;371(6):568–71.CrossRefGoogle Scholar
  39. 39.
    Meyts I, Aksentijevich I. Deficiency of Adenosine Deaminase 2 (DADA2): updates on the phenotype, genetics, pathogenesis, and treatment. J Clin Immunol. 2018;38(5):569–78.CrossRefGoogle Scholar
  40. 40.
    Torrelo A. CANDLE syndrome as a paradigm of proteasome-related autoinflammation. Front Immunol. 2017;8:927.CrossRefGoogle Scholar
  41. 41.
    Wiseman DH, May A, Jolles S, et al. A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD). Blood. 2013;122(1):112–23.CrossRefGoogle Scholar
  42. 42.
    Milner JD. PLAID: a syndrome of complex patterns of disease and unique phenotypes. J Clin Immunol. 2015;35(6):527–30.CrossRefGoogle Scholar
  43. 43.
    Aksentijevich I, Masters SL, Ferguson PJ, et al. An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist. N Engl J Med. 2009;360(23):2426–37.CrossRefGoogle Scholar
  44. 44.
    Berteau F, Rouviere B, Delluc A, et al. Autosomic dominant familial Behçet disease and haploinsufficiency A20: a review of the literature. Autoimmun Rev. 2018;17(8):809–15.CrossRefGoogle Scholar

Copyright information

© Springer Nature Switzerland AG 2020

Authors and Affiliations

  1. 1.Department of Rheumatology and ImmunologyPeking Union Medical College HospitalBeijingChina
  2. 2.Division of Rheumatology, Allergy and Immunology, Department of MedicineStony Brook UniversityStony BrookUSA

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