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PReS-FINAL-2199: A novel mutation in the CIAS1/NLRP3 gene associated with an unusual phenotype of CAPS

✍ Scribed by Insalaco, A; Prencipe, G; Buonuomo, PS; Ceccherini, I; Bracaglia, C; Pardeo, M; Nicolai, R; De Benedetti, F


Book ID
121593363
Publisher
BioMed Central
Year
2013
Tongue
English
Weight
98 KB
Volume
11
Category
Article
ISSN
1546-0096

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## Abstract ## Objective Familial cold urticaria (FCU) and Muckle‐Wells syndrome (MWS) are dominantly inherited autoinflammatory disorders that cause rashes, fever, arthralgia, and in some subjects, AA amyloidosis, and have been mapped to chromosome 1q44. Sensorineural deafness in MWS, and provoca