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Article

Brief Report: Cryopyrin-Associated Periodic Syndrome Caused by a Myeloid-Restricted Somatic NLRP3 Mutation.

Arthritis & rheumatology (Hoboken, N.J.) - 1 Sept 2015

Zhou Qing, Aksentijevich Ivona, Wood Geryl M, Walts Avram D, Hoffmann Patrycja, Remmers Elaine F, Kastner Daniel L, Ombrello Amanda K

Abstract excerpt

OBJECTIVE: To identify the cause of disease in an adult patient presenting with recent-onset fevers, chills, urticaria, fatigue, and profound myalgia, who was found to be negative for cryopyrin-associated periodic syndrome (CAPS) NLRP3 mutations by conventional Sanger DNA sequencing. METHODS: We performed whole-exome sequencing and targeted deep sequencing using DNA from the patient's whole blood to identify a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25988971
DOI: 10.1002/art.39190
PMCID: PMC4551575

Genes

NLRP3
CAPS

Variants

Provenance

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