Skip to main content

Periodische Fiebersyndrome — autoinflammatorische Syndrome

  • Chapter
Pädiatrie
  • 126 Accesses

Auszug

Periodische Fiebersyndrome sind insgesamt seltene, monogen erbliche, chronische, multisystemische Entzündungsprozesse, gekennzeichnet durch rekurrierende Fieberattacken und den fehlenden Nachweis von Autoantikörpern oder autoantigenspezifischen T-Zellen. In den meisten Fällen ist eine molekulargenetische Diagnostik möglich (Tab. 89.1).

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 54.99
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Similar content being viewed by others

Literatur

  • Aksentijevich I, Galon J, Soares M et al. (2001) 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 69(2): 301–314

    Article  CAS  PubMed  PubMed Central  Google Scholar 

  • Hashkes PJ, Lovell DJ (1997) Recognition of infantile onset multisystem inflammatory disease as a unique entity. J Pediatr 130: 513–515

    CAS  PubMed  Google Scholar 

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

    Article  CAS  PubMed  Google Scholar 

  • Houten SM, Kuis W, Duran M, Koning TJ de et al. (1999) Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nat Genet 22:175–177

    Article  CAS  PubMed  Google Scholar 

  • Livneh A, Langevitz P, Zemer D et al. (1997) Criteria for the diagnosis of familial Mediterranean fever. Arthritis Rheum 40:1879–1885

    Article  CAS  PubMed  Google Scholar 

  • McDermott MF, Aksentijevich I, Galon J et al. (1992) Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell 97: 133–144

    Article  Google Scholar 

  • Muckle TJ, Wells M (1962) Urticaria, deafness, and amyloidosis: a new heredo-familial syndrome. Q J Med 31: 235–248

    CAS  PubMed  Google Scholar 

  • Pras M, Kastner DL (1998) Familial mediterranean fever. In Klippel JH, Dieppe PA (eds) Rheumatology, 2nd edn. Mosby, St Louis, pp 5.23.1–5.23.4

    Google Scholar 

  • Samuels J, Aksentijevich I, Torosyan Y, Centola M, Deng Z, Sood R, Kastner DL (1998) 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) 77: 268–297

    Article  CAS  Google Scholar 

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

    Article  CAS  PubMed  Google Scholar 

  • Wise CA, Gillum JD, Scidman CE, Lindor NM, Veile R, Bashiardes S, Lovett M (2002) Mutations in CD2BP1 disrupt binding to PTP PEST and are responsible for PAPA syndrome, an autoinflammatory disorder. Hum Mol Genet 11: 961–969

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2007 Springer Medizin Verlag Heidelberg

About this chapter

Cite this chapter

Horneff, G. (2007). Periodische Fiebersyndrome — autoinflammatorische Syndrome. In: Lentze, M.J., Schulte, F.J., Schaub, J., Spranger, J. (eds) Pädiatrie. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-76460-1_89

Download citation

  • DOI: https://doi.org/10.1007/978-3-540-76460-1_89

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-71895-6

  • Online ISBN: 978-3-540-76460-1

  • eBook Packages: Medicine (German Language)

Publish with us

Policies and ethics