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Articles tagged with "genetic mutation"

Looking for Links Between Rheumatoid Arthritis & Gut Bacteria, Mutations

RenĂ©e Bacher  |  June 21, 2018

Patients with a specific genetic predisposition for rheumatoid arthritis (RA) may want to take precautions when consuming certain types of meat, dairy and produce grown with cow manure, according to a new study out of the University of Central Florida (UCF) in Orlando. The study, which assessed 100 RA patients, published in the journal Frontiers…

Laurent/Yakou / Science Source

How to Recognize, Diagnose Periodic Fever Syndromes in Adults

Rick Brasington, MD  |  December 18, 2017

A number of autoinflammatory syndromes that result from genetic mutations have been described recently. The vast majority occur in children. However, three periodic fever syndromes are important for rheumatologists who treat adults to know about. The goal of this review is to provide a concise description of each condition, and to help the clinician understand…

Otulipenia: From Inflammatory Case Studies to Treatment

Lara C. Pullen, PhD  |  October 24, 2016

Otulipenia is a recently discovered autoinflammatory disease caused by germline mutations, which results in dysregulated ubiquitination in patients. In a small-scale study, researchers used exome sequencing and candidate gene screening to identify three different loss-of-function mutations in the OTULIN/FAM105B gene in patients…

COPA Genetic Mutation Identified in Lung Disease, Arthritis

Lara C. Pullen, PhD  |  June 15, 2015

Researchers from California and Texas have identified a new genetic syndrome that is characterized by systemic autoimmune disease of the lung and joints. The syndrome is driven by a genetic variant of a vesicular transport protein and is the first documented association between intracellular transport and autoimmunity. Levi B. Watkin, PhD, postdoctoral fellow at Baylor…

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