Spectrum of Clinical Features in Muckle-Wells Syndrome and Response to Anakinra

PYPAF1 gene are associated with the autoinflammatory diseases Muckle-Wells syndrome (MWS), familial cold autoinflammatory syndrome (FCAS), and neonatal-onset multisystem inflammatory disease (NOMID), which is also known as chronic infantile neurologic, cutaneous, articular (CINCA) syndrome. Molecular studies suggest that NALP3 is involved in the processing of interleukin-1 (IL-1), prompting us to investigate whether IL-1 blockade may be therapeutic in patients with MWS. Methods. We reviewed the clinical features of 3 members of a family, all of whom had MWS associated with the NALP3 variant V200M (also designated V198M), and evaluated the response of their inflamma-tory disease to treatment with the recombinant huma