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Pediatric Rheumatology

, 13:P211 | Cite as

CIAS1-associated autoinflammatory syndrome first diagnosed at age 48 years: a case report

  • M Fasshauer
  • S Borte
  • A Hauenherm
  • E Braun
  • H Reichenbach
  • M Borte
Open Access
Poster presentation
  • 317 Downloads

Keywords

Public Health Informated Consent Genetic Analyse Early Childhood Male Patient 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Cryopyrin-associated periodic syndromes are a group of autoinflammatory syndromes caused by mutations of the CIAS1gene (currently named NLRP3), and are characterized by periodic attacks of an urticaria-like rash, fever, headache, conjunctivitis and arthralgia. Often patients present in early childhood, but the great diversity of manifestations and the difficulties in genetic analyses make the diagnosis of these diseases a challenge. The authors describe the clinical features of a male patient who presented first symptoms approximately at age 23 years. with recurrent fevers up to 40°C, urticaria-like rash, orbital swelling, headache and fatigue. CIAS1-associated autoinflammatory syndrome was diagnosed at age 48 years. and confirmed genetically (mutation: c.598G>A (p.Val200Met) in Exon 3 of NLRP3 (CIAS1)-gene.

Written informated consent for publication of their clinical details was obtained from the patient/parent/guardian/relative of the patient.

Copyright information

© Fasshauer et al. 2015

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

Authors and Affiliations

  • M Fasshauer
    • 1
    • 2
  • S Borte
    • 1
    • 2
  • A Hauenherm
    • 1
  • E Braun
    • 1
    • 2
  • H Reichenbach
    • 3
  • M Borte
    • 1
    • 2
  1. 1.Klinik für Kinder- und Jugendmedizin, Klinikum St. Georg gGmbH Leipzig, Akademisches Lehrkrankenhaus der Universität LeipzigGermany
  2. 2.ImmunDefektCentrum Leipzig (IDCL) am Klinikum St. Georg gGmbH LeipzigGermany
  3. 3.Mitteldeutscher Praxisverbund HumangenetikLeipzigGermany

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