Objective: The diagnosis in the studies analyzing HLA of dermatomyositis (DM) was based on a combined clinical category of polymyositis/DM. This retrospective study investigated the associations of HLA with 5 DM-specific autoantibodies in Japanese patients diagnosed by muscle pathology.
Methods: We diagnosed Japanese patients with DM based on sarcoplasmic expression of myxovirus resistance protein A. These patients underwent investigation for 5 DM-specific autoantibodies and HLA genotyping.
Results: Of 175 patients (83 males and 92 females; range 1-86 yrs; mean 46 yrs), 173 (98.9%) had 1 of the 5 autoantibodies. Seven alleles-, and -were more frequently detected in the patients with DM than healthy controls, but these associations were not significant after multiple testing correction. Stratifying by DM-specific autoantibodies, we found the associations of 6 already known and 7 new alleles-, and -with subsets of DM. Moreover, significant associations of 5 alleles with antinucleosome remodeling deacetylase complex (Mi-2) remained after multiple testing correction. In particular, the (odds ratio [OR 28.9]; corrected = 2.7 × 10) and (OR 4.0; corrected = 1.6 × 10) alleles were significantly more prevalent in patients with anti-Mi-2 antibody than in controls.
Conclusion: This study demonstrates DM-specific autoantibodies defined immunogenetic subsets of DM.
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http://dx.doi.org/10.3899/jrheum.2022-1321 | DOI Listing |
Mod Rheumatol Case Rep
August 2024
Department of Rheumatology and Clinical Immunology, Graduate School of Medicine, Kyoto University, Kyoto, Japan.
Vesiculobullous dermatomyositis (VD) is a rare manifestation of dermatomyositis (DM) and has been suggested to be associated with malignancy. Although the myositis-specific autoantibodies are associated with distinct clinical presentations of DM, those associated with VD remain unclear. Here, we present the case of a 54-year-old man with VD who tested positive for anti-nuclear matrix protein 2 (NXP-2) antibody, one of the DM-specific autoantibodies.
View Article and Find Full Text PDFThis case report details the management of anti-melanoma differentiation-associated gene 5 (MDA5) antibody-positive acute interstitial pneumonia in a 93-year-old man, a condition characterized by rapid progression and high mortality. Despite the grim prognosis typically associated with this disease, especially in elderly patients, the subject of this report survived beyond the expected timeframe, illustrating the effectiveness of prompt and aggressive treatment strategies. Initially presenting with dyspnea, the patient's diagnostic process was challenging due to the absence of dermatomyositis (DM)-specific skin manifestations.
View Article and Find Full Text PDFZhong Nan Da Xue Xue Bao Yi Xue Ban
December 2023
Department of Pathology, Second Xiangya Hospital, Central South University, Changsha 410011, China.
Dermatomyositis (DM) is an autoimmune disease often complicated with malignant tumors. More than 50% of DM patients have myositis specific autoantibodies in their bodies. DM specific autoantibodies [including anti-migration inhibitory factor (Mi)-2 antibody, anti-nuclear matrix protein (NXP)-2 antibody, anti-transcription intermediary factor (TIF) 1-γ antibody, and anti-small ubiquitin like modifier activating enzyme (SAE) antibody] play important roles in the pathogenesis of malignancy associated DM.
View Article and Find Full Text PDFJ Rheumatol
September 2023
M. Oyama, MD, PhD, Shigeaki Suzuki, MD, PhD, Department of Neurology, Keio University School of Medicine, Tokyo, Japan.
Objective: The diagnosis in the studies analyzing HLA of dermatomyositis (DM) was based on a combined clinical category of polymyositis/DM. This retrospective study investigated the associations of HLA with 5 DM-specific autoantibodies in Japanese patients diagnosed by muscle pathology.
Methods: We diagnosed Japanese patients with DM based on sarcoplasmic expression of myxovirus resistance protein A.
Rheumatology (Oxford)
July 2023
Division of Neuromuscular Medicine, Department of Neurology, Mayo Clinic, Rochester, MN, USA.
Objectives: Symptomatic myopathy in sarcoidosis patients is not always due to sarcoid myopathy (ScM). We investigated the clinical and pathological spectrum including myxovirus resistance protein A (MxA) expression among sarcoidosis patients.
Methods: We reviewed the Mayo Clinic database (May 1980-December 2020) to identify sarcoidosis patients with myopathic symptoms and pathological evidence of myopathy.
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