Article
Brief Report: A Novel ELANE Mutation Associated With Inflammatory Arthritis, Defective NETosis, and Recurrent Parvovirus Infection.
Arthritis & rheumatology (Hoboken, N.J.) - 1 Dec 2017
Thanarajasingam Uma, Jensen Mark A, Dorschner Jessica M, Wampler Muskardin Theresa, Ghodke-Puranik Yogita, Purmalek Monica, Eliopoulos Elias, Zervou Maria I, Goulielmos George N, Howard Matthew, Kaplan Mariana J, Niewold Timothy B
Abstract excerpt
OBJECTIVE: We describe a 38-year-old woman who presented with a history of inflammatory arthritis, rash, and daily fevers. She was noted to have chronic parvovirus infection with persistently detectable viral titers and a novel mutation in the ELANE gene. ELANE encodes neutrophil elastase, a neutrophil serine protease with important antimicrobial effects, and is found as part of neutrophil extracellular trap...
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