Article
A novel mutation in the CIAS1/NLRP3 gene associated with an unexpected phenotype of cryopyrin-associated periodic syndromes.
Clinical and experimental rheumatology - 1 Jan 2000
Insalaco Antonella, Prencipe Giusi, Buonuomo Paola Sabrina, Ceccherini Isabella, Bracaglia Claudia, Pardeo Manuela, Nicolai Rebecca, De Benedetti Fabrizio
Abstract excerpt
OBJECTIVES: Cryopyrin-associated periodic syndromes (CAPS) comprise a spectrum of distinct, rare, autosomal dominant autoinflammatory disorders of increasing severity caused by NLRP3 gene mutations. METHODS: We describe a 13-year-old female who presented, in the initial phase of the disease, recurrent episodes of high fever, pericarditis, arthralgia, arthritis of the knees, abdominal pain and marked increase in...
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