MEFV gene polymorphisms and TNFRSF1A mutation in patients with inflammatory myopathy with abundant macrophages. (November 2014)

• Record Type: Journal Article
• Authors: Fujikawa, K.; Migita, K.; Shigemitsu, Y.; Umeda, M.; Nonaka, F.; Tamai, M.; Nakamura, H.; Mizokami, A.; Tsukada, T.; Origuchi, T.; Yonemitsu, N.; Yasunami, M.; Kawakami, A.; Eguchi, K.
• Is Part Of: Clinical and experimental immunology. Volume 178:Number 2(2014:Nov.)
• Page Start: 224
• Page End: 228
• Publication Date: 2014-11
• Subjects: Immunopathology -- Periodicals; 616.079
• DOI: 10.1111/cei.12407
• Languages: English
• ISSNs: 0009-9104

Abstract

<abstract abstract-type="main"> <title>Summary</title> <p>Inflammatory myopathy with abundant macrophages (IMAM) has recently been proposed as a new clinical condition. Although IMAM shares certain similarities with other inflammatory myopathies, the mechanisms responsible for this condition remain unknown. Patients with familial Mediterranean fever (FMF) and tumour necrosis factor receptor‐associated periodic syndrome (TRAPS) also often develop myalgia. We therefore investigated the polymorphisms or mutations of <italic>MEFV</italic> and <italic>TNFRSF1A</italic> genes in patients with IMAM to identify their potential role in this condition. We analysed the clinical features of nine patients with IMAM and sequenced exons of the <italic>MEFV</italic> and <italic>TNFRSF1A</italic> genes. The patients with IMAM had clinical symptoms such as myalgia, muscle weakness, erythema, fever and arthralgia. Although none of the patients were diagnosed with FMF or TRAPS, seven demonstrated <italic>MEFV</italic> polymorphisms (<italic>G304R, R202R, E148Q, E148Q‐L110P</italic> and <italic>P369S‐R408Q</italic>), and one demonstrated a <italic>TNFRSF1A</italic> mutation (<italic>C43R</italic>). These results suggest that <italic>MEFV</italic> gene polymorphisms and <italic>TNFRSF1A</italic> mutation are susceptibility and modifier genes in IMAM.</p> </abstract>