Skip to main content

Autoinflammatory Syndromes in Children

  • Chapter
  • First Online:
Pediatric Rheumatology
  • 1628 Accesses

Abstract

To know the concept of autoinflammatory syndromes

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 109.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 139.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 219.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Masters SL, Simon A, Aksentijevich I, Kastner DL. Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*). Annu Rev Immunol. 2009;27:621–68.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

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

    Article  Google Scholar 

  3. Chae JJ, Wood G, Richard K, et al. The familial Mediterranean fever protein, pyrin, is cleaved by caspase-1 and activates NF-kappaB through its N-terminal fragment. Blood. 2008;112:1794–803.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  4. Majeed HA, Rawashdeh M, el-Shanti H, Qubain H, Khuri-Bulos N, Shahin HM. Familial Mediterranean fever in children: the expanded clinical profile. QJM. 1999;92:309–18.

    Article  CAS  PubMed  Google Scholar 

  5. 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.

    Article  CAS  Google Scholar 

  6. Brik R, Shinawi M, Kasinetz L, Gershoni-Baruch R. The musculoskeletal manifestations of familial Mediterranean fever in children genetically diagnosed with the disease. Arthritis Rheum. 2001;44:1416–9.

    Article  CAS  PubMed  Google Scholar 

  7. Ince E, Cakar N, Tekin M, et al. Arthritis in children with familial Mediterranean fever. Rheumatol Int. 2002;21:213–7.

    Article  PubMed  Google Scholar 

  8. Booty MG, Chae JJ, Masters SL, et al. Familial Mediterranean fever with a single MEFV mutation: where is the second hit? Arthritis Rheum. 2009;60:1851–61.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

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

    Article  CAS  PubMed  Google Scholar 

  10. Hull KM, Drewe E, Aksentijevich I, et al. The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder. Medic (Baltim). 2002;81:349–68.

    Article  CAS  Google Scholar 

  11. Ravet N, Rouaghe S, Dode C, et al. Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene. Ann Rheum Dis. 2006;65:1158–62.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  12. 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.

    Article  Google Scholar 

  13. Drenth JP, Cuisset L, Grateau G, et al. Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome. Int Hyper-IgD Study Group Nat Genet. 1999;22:178–81.

    CAS  Google Scholar 

  14. Bodar EJ, Kuijk LM, Drenth JPH, et al. On demand anakinra is effective in mevalonate kinase deficiency. Ann Rheum Dis. 2011;70:2155–8.

    Article  CAS  PubMed  Google Scholar 

  15. Neven B, Prieur AM, Quartier dit Maire P. Cryopyrinopathies: update on pathogenesis and treatment. Nat Clin Pract Rheumatol. 2008;4:481–9.

    Article  CAS  PubMed  Google Scholar 

  16. Marshall GS, Edwards KM, Butler J, Lawton AR. Syndrome of periodic fever, pharyngitis, and aphthous stomatitis. J Pediatr. 1987;110:43–6.

    Article  CAS  PubMed  Google Scholar 

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

    Article  CAS  PubMed  Google Scholar 

  18. Stojanov S, Hoffmann F, Kery A, et al. Cytokine profile in PFAPA syndrome suggests continuous inflammation and reduced anti-inflammatory response. Eur Cytokine Netw. 2006;17:90–7.

    CAS  PubMed  Google Scholar 

  19. Feder Jr HM. Cimetidine treatment for periodic fever associated with aphthous stomatitis, pharyngitis and cervical adenitis. Pediatr Infect Dis J. 1992;11:318–21.

    Article  PubMed  Google Scholar 

  20. Stojanov S, Lapidus S, Chitkara P, et al. Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) is a disorder of innate immunity and Th1 activation responsive to IL-1 blockade. Proc Natl Acad Sci USA. 2011;108:7148–53.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  21. Renko M, Salo E, Putto-Laurila A, et al. A randomized, controlled trial of tonsillectomy in periodic fever, aphthous stomatitis, pharyngitis, and adenitis syndrome. J Pediatr. 2007;151:289–92.

    Article  CAS  PubMed  Google Scholar 

  22. Garavello W, Romagnoli M, Gaini RM. Effectiveness of adenotonsillectomy in PFAPA syndrome: a randomized study. J Pediatr. 2009;155:250–3.

    Article  PubMed  Google Scholar 

  23. Lindor NM, Arsenault TM, Solomon H, Seidman CE, McEvoy MT. A new autosomal dominant disorder of pyogenic sterile arthritis, pyoderma gangrenosum, and acne: PAPA syndrome. Mayo Clin Proc. 1997;72:611–5.

    Article  CAS  PubMed  Google Scholar 

  24. Yeon HB, Lindor NM, Seidman JG, Seidman CE. Pyogenic arthritis, pyoderma gangrenosum, and acne syndrome maps to chromosome 15q. Am J Hum Genet. 2000;66:1443–8.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  25. Aksentijevich I, Masters SL, Ferguson PJ, et al. An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist. N Engl J Med. 2009;360:2426–37.

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  26. Zhou Q, Yang D, Ombrello A, et al. Early-onset stroke and vasculopathy associated with mutations in ADA2. N Eng J Med. 2014;370:911–20.

    Article  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Karyl Barron MD .

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2017 Springer Science+Business Media Singapore

About this chapter

Cite this chapter

Barron, K. (2017). Autoinflammatory Syndromes in Children. In: Sawhney, S., Aggarwal, A. (eds) Pediatric Rheumatology. Springer, Singapore. https://doi.org/10.1007/978-981-10-1750-6_43

Download citation

  • DOI: https://doi.org/10.1007/978-981-10-1750-6_43

  • Published:

  • Publisher Name: Springer, Singapore

  • Print ISBN: 978-981-10-1749-0

  • Online ISBN: 978-981-10-1750-6

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics