Encyclopedia of Medical Immunology

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

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

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



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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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