Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism—UK Single Center Experience

Late-Onset Cryopyrin-Associated Periodic Syndromes Caused by Somatic NLRP3 Mosaicism—UK Single Center Experience

Cryopyrin-associated periodic syndrome (CAPS) is caused by gain-of-function NLRP3 mutations. Recently, somatic NLRP3 mosaicism has been reported in some CAPS patients who were previously classified as “mutation-negative.” We describe here the clinical and laboratory findings in eight British adult p...

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Bibliographic Details
Main Authors: Dorota M. Rowczenio, Sónia Melo Gomes, Juan I. Aróstegui, Anna Mensa-Vilaro, Ebun Omoyinmi, Hadija Trojer, Anna Baginska, Alberto Baroja-Mazo, Pablo Pelegrin, Sinisa Savic, Thirusha Lane, Rene Williams, Paul Brogan, Helen J. Lachmann, Philip N. Hawkins
Format: Article
Language:English
Published: Frontiers Media S.A. 2017-10-01
Series:Frontiers in Immunology
Subjects:
cryopyrin-associated periodic syndrome
ASC aggregates
AA amyloidosis
NLRP3 somatic mutation
mutant allele
IL-1β
Online Access:http://journal.frontiersin.org/article/10.3389/fimmu.2017.01410/full

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http://journal.frontiersin.org/article/10.3389/fimmu.2017.01410/full

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