Abstract
Cryopyrin-associated periodic syndrome (CAPS) is an autoinflammatory syndrome caused by heterozygous mutations of CIAS1/NLRP3 gene. Affected patients may present with three different phenotypes: familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome and CINCA syndrome. Common symptoms include sporadic or cold-induced non pruritic urticarial rash and fever. Severe cases suffer from deafness, meningitis, articular contracture and secondary amyloidosis.
Highlights
Cryopyrin-associated periodic syndrome (CAPS) is an autoinflammatory syndrome caused by heterozygous mutations of CIAS1/NLRP3 gene
Case Report We describe a 13-year-old female who complained, starting at 12 years of age, of recurrent episodes of high fever, pericarditis, arthralgia, arthritis of the knees, abdominal pain
Molecular analysis of the CIAS1 gene revealed the presence of a c.1105C>A mutation in the heterozygous state, that predicts a L369M amino acid substitution
Summary
A Insalaco1*, PS Buonuomo[1], C Bracaglia[1], M Pardeo[1], I Ceccherini[2], R Nicolai[1], F De Benedetti[1]. From 7th Congress of International Society of Systemic Auto-Inflammatory Diseases (ISSAID) Lausanne, Switerland. 22-26 May 2013
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