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