Encyclopedia of Medical Immunology

Living Edition
| Editors: Ian MacKay, Noel R. Rose

Familial Cold Autoinflammatory Syndrome (FCAS) and Muckle-Wells Syndrome (MWS)

  • Hal M. Hoffman
Living reference work entry
DOI: https://doi.org/10.1007/978-1-4614-9209-2_123-1

Synonyms

Definition

Familial cold autoinflammatory syndrome and Muckle-Wells syndrome are autoinflammatory diseases presenting with urticarial-like rash, limb pain, and other systemic inflammatory manifestations due to autosomal dominant gain-of-function mutations in NLRP3 (MIM MWS #191900, MIM FCAS #120100).

Introduction and Background

The cryopyrin-associated periodic syndromes (CAPS) are a spectrum of genetically determined autoinflammatory disorders including familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), and neonatal-onset multisystem inflammatory disease (NOMID) (Aksentijevich et al. 2007). This monograph will focus on FCAS and MWS, the milder end of the disease continuum, while a discussion of NOMID appears elsewhere. In...

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References

  1. Aksentijevich I, DP C, Remmers EF, Mueller JL, Le J, Kolodner RD, et al. The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model. Arthritis Rheum. 2007;56(4):1273–85.CrossRefPubMedCentralGoogle Scholar
  2. Doherty TA, Brydges SD, Hoffman HM. Autoinflammation: translating mechanism to therapy. J Leukoc Biol. 2011;90(1):37–47.CrossRefPubMedCentralGoogle Scholar
  3. Hawkins PN, Lachmann HJ, Aganna E, McDermott MF. Spectrum of clinical features in muckle-wells syndrome and response to anakinra. Arthritis Rheum. 2004;50(2):607–12.CrossRefPubMedCentralGoogle Scholar
  4. Hoffman HM, Wanderer AA, Broide DH. Familial cold autoinflammatory syndrome: phenotype and genotype of an autosomal dominant periodic fever. J Allergy Clin Immunol. 2001;108(4):615–20.CrossRefPubMedCentralGoogle Scholar
  5. Kuemmerle-Deschner JB, Ozen S, Tyrrell PN, Kone-Paut I, Goldbach-Mansky R, et al. Diagnostic criteria for cryopyrin-associated periodic syndrome (CAPS). Ann Rheum Dis. 2017;76(6):942–947.CrossRefPubMedCentralGoogle Scholar

Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Division of Pediatric Allergy, Immunology, and RheumatologyUniversity of California, San Diego and Rady Children’s HospitalSan DiegoUSA

Section editors and affiliations

  • Raphaela Goldbach-Mansky
    • 1
  1. 1.NIAID, Translational Autoinflammatory Disease StudiesNational Institutes of Health Clinical CenterBethesdaUSA