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The objective of this study was to identify factors predictive of malignancy in patients with polymyositis (PM) and dermatomyositis (DM) in Japan. We conducted a retrospective study of PM and DM patients who were admitted to our hospital between January 1992 and September 2017. Among 134 patients, 29 (21.6%) were diagnosed with cancer in the 3 years prior to and 3 years after the initial diagnosis of PM or DM. According to multivariate analyses, male sex [odds ratio (OR) = 3.65, p = 0.03], old age (OR = 1.05, p = 0.02), and a past history of diabetes mellitus (OR = 10.4, p = 0.005) were associated with an increased risk of malignancy. The absence of interstitial lung disease (ILD) (OR = 0.25, p = 0.03) was also associated with an increased risk of malignancy. Diabetes mellitus was observed in 28.6% of PM and DM patients with malignancy, but in only 7.3% of those with malignancy. Survival was significantly lower in patients with malignancy than in those without malignancy (p

Objective Previous gene expression analyses seeking genes specific to antineutrophil cytoplasmic antibody-associated vasculitis (AAV) have been limited due to crude cell separation and the use of microarrays. This study aims to identify AAV-specific gene expression profiles in a way that overcomes those limitations. Methods Blood samples were collected from 26 AAV patients and 28 healthy controls (HCs). Neutrophils were isolated by negative selection, whereas 19 subsets of peripheral blood mononuclear cells were sorted by fluorescence assisted cell sorting. RNA-sequencing was then conducted for each sample, and iterative weighted gene correlation network analysis (iterativeWGCNA) and random forest were consecutively applied to identify the most influential gene module in distinguishing AAV from HCs. Correlations of the identified module with clinical parameters were evaluated, and the biological role was assessed with hub gene identification and pathway analysis. Particularly, the module's association with neutrophil extracellular trap formation, NETosis, was analyzed. Finally, the module's overlap with GWAS-identified autoimmune disease genes (GADGs) was assessed for validation. Results A neutrophil module (Neu_M20) was ranked top in the random forest analysis among 255 modules created by iterativeWGCNA. Neu_M20 correlated with disease activity and neutrophil counts but not with the presence of antineutrophil cytoplasmic antibody. The module comprised pro-inflammatory genes, including those related to NETosis, supported by experimental evidence. The genes in the module significantly overlapped GADGs. Conclusion We identified the distinct group of pro-inflammatory genes in neutrophils, which characterize AAV. Further investigations are warranted to confirm our findings as they could serve as novel therapeutic targets.

Thrombotic microangiopathies (TMAs) rarely accompany polymyositis/dermatomyositis. We treated three patients with dermatomyositis combined with TMA. A literature review identified 13 previously reported cases. Exacerbation of myositis at the time of the TMA onset was observed in 62.5% of all patients, suggesting that the TMA onset may be associated with autoantibody production. We also found that cases of TMA with polymyositis/dermatomyositis often had a poor treatment response rate (37.5%). Furthermore, even if treatment was effective, the mortality rate associated with subsequent complications was high, and the survival rate was low (18.8%). Therefore, careful attention should be paid to patient management after TMA treatment.

Summary Genetic studies have revealed many variant loci that are associated with immune-mediated diseases. To elucidate the disease pathogenesis, it is essential to understand the function of these variants, especially under disease-associated conditions. Here, we performed a large-scale immune cell gene-expression analysis, together with whole-genome sequence analysis. Our dataset consists of 28 distinct immune cell subsets from 337 patients diagnosed with 10 categories of immune-mediated diseases and 79 healthy volunteers. Our dataset captured distinctive gene-expression profiles across immune cell types and diseases. Expression quantitative trait loci (eQTL) analysis revealed dynamic variations of eQTL effects in the context of immunological conditions, as well as cell types. These cell-type-specific and context-dependent eQTLs showed significant enrichment in immune disease-associated genetic variants, and they implicated the disease-relevant cell types, genes, and environment. This atlas deepens our understanding of the immunogenetic functions of disease-associated variants under in vivo disease conditions.

We report here on the first case, to our knowledge, of retro-odontoid pseudotumor (ROP) in a patient with an autoimmune disease other than rheumatoid arthritis (RA). It is possible that the onset of ROP was related to Sjogren syndrome (SS) with serology for systemic lupus erythematosus (SLE). A 34-year-old man presented with an ROP without RA. Three years earlier, he had sicca symptoms and many renal and splenic infarctions, and was diagnosed with SS and antiphospholipid antibody syndrome. The anti-SSA, anti-SSB, anti-dsDNA, anti-RNP, and anti-Sm antibodies and …