医学論文参考文献の参考文献例（１）TIF1γ

医学論文機械翻訳例（１）TIF1γ

https://qiita.com/kaizen_nagoya/items/4de2c9b382ef666cfdcd

># REFERENCES
>## 1 Schmidt J. Current classification and management of inflammatory myopathies. J Neuromuscul Dis 2018;5:109–29.

https://pubmed.ncbi.nlm.nih.gov/29865091/


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> ## 2 Selva-O’Callaghan A, Pinal-Fernandez I, Trallero-Araguás E, et al. Classification and management of adult inflammatory myopathies. Lancet Neurol 2018;17:816–28.

https://pubmed.ncbi.nlm.nih.gov/30129477/

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5 McHugh NJ, Tansley SL. Autoantibodies in myositis. Nat Rev Rheumatol
2018;14:290–302.

https://www.nature.com/articles/nrrheum.2018.56

6 Mammen AL, Casciola-Rosen L, Christopher-Stine L, et al. Myositis-Specific autoantibodies are specific for myositis compared to genetic muscle disease. Neurol Neuroimmunol Neuroinflamm 2015;2:e172.


https://nn.neurology.org/content/2/6/e172

Abstract

Objective: To determine the specificity of myositis-specific autoantibodies (MSAs) for autoimmune myopathy compared with inherited muscle diseases.

Methods: Serum samples from 47 patients with genetically confirmed inherited muscle diseases were screened for the most common MSAs, including those recognizing TIF1γ, NXP2, Mi2, MDA5, Jo1, SRP, and HMGCR. We compared these results with the findings in a cohort of patients with dermatomyositis (DM) previously screened for anti-TIF1γ, -NXP2, -Mi2, -MDA5, and -Jo1.

Results: Overall, the presence of anti-TIF1γ, -NXP2, -Mi2, -MDA5, or -Jo1 was 96% specific and 67% sensitive for DM compared to patients with genetic muscle diseases. No patients with inherited muscle disease had anti-SRP or anti-HMGCR autoantibodies. Only 2 patients with genetic muscle disease had a MSA. One patient with anti-Mi2 autoantibodies had both genetically confirmed facioscapulohumeral dystrophy and dermatomyositis based on a typical skin rash and partial response to immunosuppressive medications. A second patient with anti-Jo-1 autoantibodies had both genetically defined limb-girdle muscular dystrophy type 2A (i.e., calpainopathy) and a systemic autoimmune process based on biopsy-confirmed lupus nephritis, sicca symptoms, and anti-Ro52 autoantibodies.

Conclusions: The MSAs tested for in this study are highly specific for autoimmune muscle disease and are rarely, if ever, found in patients who only have genetic muscle disease. In patients with genetic muscle disease, the presence of a MSA should suggest the possibility of a coexisting autoimmune process.

GLOSSARY

DM=dermatomyositis; FSHD=facioscapulohumeral dystrophy; HMGCR=HMG-CoA reductase; IMNM=immune-mediated necrotizing myopathy; IVTT=in vitro transcription and translation; LGMD=limb-girdle muscular dystrophies; MSA=myositis-specific autoantibody; PM=polymyositis
The autoimmune myopathies are a heterogeneous group of diseases characterized by proximal muscle weakness, elevated muscle enzyme levels, and muscle biopsies revealing inflammation or myofiber necrosis.1,2 The principal forms of autoimmune myopathy are dermatomyositis (DM), polymyositis (PM), and immune-mediated necrotizing myopathy (IMNM).3 Many patients with these diseases produce autoantibodies. Myositis-specific autoantibodies (MSAs) are defined by their presence in patients with autoimmune myopathy, but not in those with other rheumatic diseases.

Patients with inherited muscle disease may present with clinical features resembling myositis. The utility of MSAs to distinguish myositis from genetic muscle disease depends on them being found specifically in patients with myositis. Importantly, it was demonstrated a decade ago that 3 of the most commonly recognized MSAs at the time (anti-Jo1, -SRP, and -Mi2) were only rarely found in patients with inherited muscle disease.4 Since then, however, several new MSAs have been identified.5 These include anti-TIf1γ, -NXP2, and -MDA5; like anti-Mi2, these autoantibodies are found only in patients with DM. Similarly, anti-HMG-CoA reductase (HMGCR) autoantibodies, like anti-SRP autoantibodies, are now recognized to be associated with IMNM.6

In the current study, we have determined the prevalence of the most common MSAs in a population of patients with inherited muscle disease. A large proportion of patients with facioscapulohumeral dystrophy (FSHD) were included because muscle biopsies from these patients demonstrate inflammatory infiltrates. We also included patients with other muscular dystrophies reported to have an inflammatory component, including limb-girdle muscular dystrophies (LGMD) 1C, 2A, 2B, and 2L.

METHODS

Patients.
Sera from all 20 patients with available samples and a genetically confirmed diagnosis of inherited muscle disease evaluated between 2008 and 2013 at the Johns Hopkins Myositis Center were screened for the presence of the most common MSAs. The group consisted of 5 patients with type 2 myotonic dystrophy, 4 with FSHD, 3 with LGMD 2B, 2 with Laing distal myopathy, and one each with LGMD 1C, LGMD 2A, LGMD 2I, LGMD 2L, mitochondrial myopathy, and a valosin-containing protein gene mutation (causing inclusion body myopathy with Paget disease of bone and dementia). An additional 27 sera from patients with genetically confirmed FSHD were from the Center for Genetic Muscle Disorders at Kennedy Krieger. The results were compared with a control group of 91 patients with well-defined DM, reported previously.7

Standard protocol approvals, registrations, and patient consents.
The study protocols were approved by the Johns Hopkins Institutional Review Board and all participants signed informed consent.

Autoantibody assays.
All sera were tested for autoantibodies recognizing the 7 most common targets of MSAs: Jo1, TIF1γ, NXP2, MDA5, Mi2, SRP, and HMGCR. Anti-Jo1 and anti-HMGCR antibodies were determined using commercially available ELISA kits (Inova Diagnostics, San Diego, CA). MDA5, NXP2, SRP54, and Mi2 antibodies were assayed by immunoprecipitation using 35S-methionine-labeled proteins generated by in vitro transcription and translation (IVTT) from the appropriate cDNAs as described.8 All IVTT immunoprecipitates were electrophoresed on sodium dodecyl sulfate–polyacrylamide gels and detected by fluorography. Initial screening for TIF1γ antibodies was performed by immunoprecipitation from HeLa cells labeled with 35S-methionine as previously described.9 In 8 cases, a protein of 140–160 kD was immunoprecipitated from HeLa cells. Since TIF1γ has a molecular weight of ∼155 kD, we subsequently retested these 8 sera using an assay that specifically reads out anti-TIF1γ antibodies. This was done by immunoprecipitation using lysates made from cells transiently transfected with TIF1γ cDNA, followed by detection by immunoblotting as described previously.8 Of note, autoantibody testing of the participants with genetic muscle disease was performed in the same laboratory using the same methods and reagents as previously reported for the control DM cohort.7

RESULTS

The specificities, sensitivities, positive predictive values, and negative predictive values for anti-TIF1γ, -NXP2, -Mi2, -MDA5, and -Jo1 in DM compared to inherited muscle disease are shown in the table. The specificity and sensitivity of individual autoantibodies ranged from 98% to 100% and from 5% to 27%, respectively. Taken together, these antibodies were 96% specific and 67% sensitive for DM compared to genetic muscle disease.

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Table
MSAs in autoimmune compared to genetic muscle disease

None of the 47 participants with inherited muscle diseases tested positive for antibodies recognizing TIF1γ, NXP2, MDA5, SRP, or HMGCR (table). A single patient with FSHD tested positive for Mi2. Interestingly, this female patient had genetically confirmed FSHD when referred to the Johns Hopkins Myositis Center for suspected dermatomyositis based on the presence of characteristic rashes with resolution of the rash and partial improvement in proximal muscle weakness with immunosuppressive therapy. A female patient with LGMD 2A tested positive for Jo1 autoantibodies. This patient had a muscle biopsy revealing a mild necrotizing myopathy without prominent inflammation; this is a common finding in LGMD and is also the predominant histopathologic feature in ∼15% of Jo-1-positive patients.7 Of note, this patient had manifestations of widespread autoimmunity including biopsy-proven lupus nephritis, sicca symptoms (i.e., dry mouth and positive Schirmer test), positive antinuclear antibodies (1:2,560), and positive anti-Ro. However, she did not have other manifestations of the antisynthetase syndrome, such as arthritis or interstitial lung disease.

DISCUSSION

Since antibodies recognizing Jo1, SRP, and Mi2 were shown to be specific for autoimmune myopathy compared with genetic muscle diseases,4 several other MSAs have been discovered. Some of these new antibodies are even more common in patients with myositis than those previously studied. For example, in the Johns Hopkins Myositis Cohort, TIf1γ and NXP2 were found in 27% and 19% of patients with DM, respectively; Mi2 was present in just 13% of patients with DM.7 Similarly, in patients with necrotizing myopathies in the Johns Hopkins cohort, antibodies recognizing HMGCR were found in 42%, whereas anti-SRP was found in just 16%.9

In this study, we demonstrate that the myositis autoantibodies we tested for were only found in 2 of 47 (4.2%) participants with inherited muscle diseases. These included one patient with anti-Mi2 and one with anti-Jo-1, both of which are found in patients with DM. In contrast, among 91 patients with DM tested, 61 (67%) had antibodies recognizing TIF1g, NXP2, Mi2, Jo-1, or MDA5.7 Thus, the sensitivity and specificity for these antibodies in DM compared to genetic muscle disease is 67% and 96%, respectively.

Anti-SRP and anti-HMGCR antibodies are found in patients with IMNM and were not found in any patients with inherited muscle disease. Thus, these 2 antibodies appear to be 100% specific for IMNM compared to those with inherited muscle diseases. Of note, the presence of one of these antibodies is what usually confirms the diagnosis of IMNM. In patients with a necrotizing muscle biopsy who do not have an antibody, the diagnosis is often in doubt; a significant number of these patients may have an undiagnosed genetic disease. Given the uncertainty in diagnosing antibody-negative IMNM, we did not attempt to define the sensitivity of anti-SRP and -HMGCR antibodies for IMNM.

There are vanishingly few patients among more than 1,000 in the Johns Hopkins Myositis Center cohort that we would currently consider to have PM. Most patients referred to our clinic with an established or suspected diagnosis of PM are ultimately diagnosed with inclusion body myositis, IMNM, a genetic muscle disease, or the antisynthetase syndrome (which is defined by the presence of Jo-1 or another antisynthetase antibody). Other groups have also confirmed the exceptional rarity of PM.10,11 Consequently, we have not attempted to determine the sensitivity and specificity of MSA testing in PM.

Importantly, the participant with FSHD and the DM autoantibody Mi-2 was diagnosed with DM prior to autoantibody testing. This is not the first patient to be described with both a genetic and autoimmune muscle disease. Indeed, a patient with LGMD 2L caused by anoctamin-5-gene mutations was shown to also have anti-HMGCR antibodies.12 Like our FSHD/DM participant, this patient improved with immunosuppressive treatment, supporting the conclusion that he had both genetic and autoimmune muscle diseases. It is also notable that the LGMD 2A patient who tested positive for Jo-1 antibodies in the current study had evidence of systemic autoimmunity, if not other typical manifestations of the antisynthetase syndrome. Taken together, these examples suggest that a positive MSA test in a patient with genetic muscle disease may not be a false-positive. Rather, such a result may suggest that there is a coexisting autoimmune process. We suspect that in these cases, the presence of both an autoimmune muscle disease and a genetic muscle disease is not serendipitous. Rather, we hypothesize that high levels of myositis autoantigens known to be expressed by regenerating muscle cells13,–,15 might fuel an autoimmune process in susceptible patients (e.g., those with specific immunogenetic risk factors).

This study has several limitations. First, not all forms of inherited myopathy were represented in our cohort, and it may be that myositis-specific autoantibodies could be found in one or more of these diseases. Second, we tested only for the most common myositis-specific autoantibodies; it is possible that some of the rarer myositis autoantibodies could be found in patients with muscular dystrophies. Third, the positive and negative predictive values shown in the table may not be accurate for other patient populations with different relative proportions of the different types of muscle disease.

These limitations notwithstanding, this study shows that MSAs are only infrequently found in patients with genetic muscle diseases and have a high specificity for patients with autoimmune myopathy. These findings support the use of MSA testing to help distinguish autoimmune from genetic muscle diseases. However, clinicians should be aware that in rare cases, patients testing positive for an MSA could also have a genetic muscle disease that will not respond to immunosuppressive therapy.

AUTHOR CONTRIBUTIONS

Andrew Mammen: drafting/revising the manuscript, study concept or design, analysis or interpretation of data, acquisition of data, statistical analysis, study supervision. Livia Casciola-Rosen: drafting/revising the manuscript, study concept or design, analysis or interpretation of data, acquisition of data, study supervision, obtaining funding. Thomas E. Lloyd: drafting/revising the manuscript, contribution of vital reagents/tools/patients. Lisa Christopher-Stine: study concept or design, contribution of vital reagents/tools/patients, acquisition of data. Kathryn R. Wagner: study concept or design.

STUDY FUNDING

Supported in part by the Intramural Research Program of the National Institute of Arthritis and Musculoskeletal and Skin Diseases of the NIH. These studies were funded by NIH grant R56A062615 (L.C.-R.). The Johns Hopkins Rheumatic Disease Research Core Center, where the assays were performed, is supported by NIH grant P30-AR-053503.

DISCLOSURE

A. Mammen is on the advisory board for aTYR Pharmaceuticals and Biogen, is on the editorial board for Experimental Neurology and Arthritis and Rheumatism, and has patented the anti-HMGCR antibody test and receives royalties from it. L. Casciola has patented the anti-HMGCR antibody test and receives royalties from it, received research support from the NIH and Jerome L. Greene Foundation. T.E. Loyd received research support from Novartis, NIH, Muscular Dystrophy Association, Robert Packard Center for ALS Research, and ALSA. L. Christopher-Stine is on the scientific advisory board for Novartis, Medimmune, Walgreen's/Option Care, Mallinckrodt, and Idera Pharmaceuticals; received travel funding and/or speaker honoraria from Inova Diagnostics; has patented the anti-HMGCR antibody test and received royalties from it; has consulted for Mallinckrodt Pharmaceuticals, Astellas, Ono Pharma UK, and Marathon Pharmaceuticals; received research support from NuFactor, Walgreens, IgG America, MedProRx, NHLBI, and Donald B. and Dorothy L. Stabler Foundation; and has been an expert witness for McAloon and Friedman, Schaub Ahmuty, Citrin and Spratt, and The Chartwell Law Offices. K.R. Wagner is on the scientific advisory board for SOLID GT, FSH Society, and PPMD DSMB of CINRG; and received research support from NICHD, NCATS, and Team Saij. Go to Neurology.org/nn for full disclosure forms.

ACKNOWLEDGMENT

Dr. Kathryn Wagner supplied vital reagents for the study.

Footnotes

Funding information and disclosures are provided at the end of the article. Go to Neurology.org/nn for full disclosure forms. The Article Processing Charge was paid by the authors.
Received June 26, 2015.
Accepted in final form September 16, 2015.
© 2015 American Academy of Neurology
This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND), which permits downloading and sharing the work provided it is properly cited. The work cannot be changed in any way or used commercially.

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7 Okiyama N, Fujimoto M. Cutaneous manifestations of dermatomyositis
characterized by myositis-specific autoantibodies. F1000Res 2019;8. 
doi:10.12688/f1000research.20646.1. [Epub ahead of print: 21 Nov 2019].

Abstract
Dermatomyositis (DM) is an inflammatory myopathy with characteristic skin manifestations, the pathologies of which are considered autoimmune diseases. DM is a heterogeneous disorder with various phenotypes, including myositis, dermatitis, and interstitial lung disease (ILD). Recently identified myositis-specific autoantibodies have been associated with distinct clinical features. For example, anti-melanoma differentiation-associated protein 5 antibodies have a high specificity for clinically amyopathic DM presenting rapidly progressive ILD. Furthermore, anti-transcriptional intermediary factor 1γ antibodies found in patients with juvenile and adult DM are closely correlated with malignancies, especially in elderly patients. Finally, patients with anti-aminoacyl-transfer RNA synthetase antibodies share characteristic clinical symptoms, including myositis, ILD, arthritis/arthralgia, Raynaud’s phenomenon, and fever; thus, the term “anti-synthetase syndrome” is also used. With a focus on the characteristic cutaneous manifestations in each subgroup classified according to myositis-specific autoantibodies, we introduce the findings of previous reports, including our recent analysis indicating that skin eruptions can be histopathologically classified into myositis-specific autoantibody-associated subgroups and used to determine the systemic pathologies of the different types of antibody-associated DM.
Keywords: dermatomyositis, myositis-specific autoantibodies
Introduction
Dermatomyositis (DM) is an inflammatory myopathy with characteristic skin manifestations, the pathologies of which are considered autoimmune diseases. DM is a heterogeneous disorder with various phenotypes, including myositis, dermatitis, and interstitial lung disease (ILD) 1. Recently, in addition to the already-established anti-aminoacyl-transfer RNA synthetase (ARS) antibody, a number of myositis-specific autoantibodies—including anti-melanoma differentiation-associated protein 5 (MDA5) antibody and anti-transcriptional intermediary factor 1γ (TIF1γ) antibody—that are not detected in patients with an inherited muscle disease 2 have been identified. These autoantibodies not only are highly disease-specific but also are associated with distinct clinical features ( Table 1) 3, 4. This article reviews their epidemiology and characteristic clinical features, with a focus on their characteristic cutaneous manifestations, to determine the systemic pathologies of the different types of antibody-associated DM.
Table 1.
Clinical features and cutaneous manifestations characterized by myositis-specific autoantibodies.
Autoantigen	Clinical features	Typical cutaneous manifestations
MDA5	Clinically amyopathic DM * with ILD †, 
especially rapid progressive ILD	Palmar violaceous macules/papules due to 
vascular injury
TIF1	Juvenile DM *; cancer-associated DM *	Severe cutaneous manifestations
Mi2	Classic DM *	Sometimes refractory
ARS	Anti-synthetase syndrome with chronic ILD †	Mechanic’s hands
NXP2	Juvenile DM and adult DM	Calcinosis
SAE	Clinically amyopathic DM * followed by 
severe myositis including dysphagia	Extensive rash, sometimes as erythroderma
Open in a separate window
ARS, aminoacyl-transfer RNA synthetase; MDA5, melanoma differentiation-associated protein 5; NXP2, nuclear matrix protein 2; SAE, small ubiquitin-like modifier activating enzyme; TIF1, transcriptional intermediary factor 1. *Dermatomyositis; †interstitial lung disease.
Epidemiology and characteristic clinical features of subgroups classified according to myositis-specific autoantibodies
Anti-MDA5 antibody has a high specificity for clinically amyopathic DM (CADM) presenting rapidly progressive ILD (RP-ILD) 5. Anti-MDA5 antibody was first reported as an anti-CADM-140 antibody that reacted with a 140-kDa cytoplasmic protein 6 subsequently identified as the retinoic acid-inducible gene I (RIG-I)-like receptor MDA5/IFIH1 (interferon [IFN] induced with helicase C domain protein 1). The anti-MDA5 antibody is detected at high frequencies among patients with DM in Asia (15.8% [26/165 cases] in Japan and 36.6% [53/145 cases] in China) 7 and South America (16% [21/131 cases] in Brazil) 8 and at low frequency (2.8%, 21/748 cases) in a cohort of patients with DM in a combined European cohort in which 87.4% of enrolled cases were Caucasian 9. Case series studies reported CADM frequencies of around 40% in anti-MDA5 antibody-positive patients with DM 7, 10. A meta-analysis of 16 studies estimated pooled sensitivity and specificity of anti-MDA5 antibody for RP-ILD of 77% (95% confidence interval [CI] 64–87%) and 86% (95% CI 79–90%), respectively, with a pooled diagnostic odds ratio of 20.41 (95% CI 9.02–46.20) 11. The severity and prognosis of RP-ILD in anti-MDA5 antibody-positive patients with DM were strongly correlated with anti-MDA5 antibody titer (detected by established enzyme-linked immunosorbent assay) and serum ferritin level 12. In a series of 44 Japanese patients with juvenile DM (JDM), 41% were positive for anti-MDA5 antibody 13 compared with 7.4% of 285 patients with JDM in the UK 14. Both studies reported anti-MDA5 antibody to be strongly associated with ILD; however, only 8 (18%) of the 44 Japanese cases and none of the UK patients developed RP-ILD. A recent cohort study in the UK observed low myositis severity scores depending on muscle biopsies in 11 anti-MDA5 antibody-positive patients 15.

The anti-TIF1 antibody was originally described as anti-155/140 and anti-p155 antibodies targeting a 155-kDa nuclear protein, sometimes with a 140-kDa protein 16, 17. These antigens were subsequently identified as TIF1 family proteins belonging to the tripartite motif (TRIM) superfamily, TIF1γ (TRIM33) and TIF1α (TRIM24), respectively. Anti-TIF1γ antibody was detected in both adult DM and JDM patients and was closely correlated with malignancies, especially in elderly patients 18– 20, at high risk of dysphagia 21 and at low risk of ILD, Raynaud phenomenon, and arthritis/arthralgia 22. Anti-TIF1γ antibody was present in 7 to 15% of patients with DM 9, 23. A meta-analysis including 1,962 patients with DM demonstrated a prevalence of malignancy-associated DM of 0.41 in patients with anti-TIF1γ autoantibody (95% CI 0.36–0.45). The diagnostic odds ratio of cancer was 9.37 (95% CI 5.37–16.34) with low heterogeneity—Cochran’s Q, 14.88 (degrees of freedom = 17, P = 0.604), I 2 = 0%—in the presence of anti-TIF1γ autoantibody 24. In contrast, 30% of patients with JDM present anti-TIF1γ antibody 17, 25 and do not develop malignancies.

Patients with anti-ARS antibodies, including anti-Jo-1, anti-PL-7, anti-PL-12, anti-EJ, anti-OJ, anti-KS, anti-Ha, and anti-Zo, share characteristic clinical symptoms such as myositis, ILD, arthritis/arthralgia, Raynaud’s phenomenon, and fever; thus, the term “anti-synthetase syndrome” is also used 26.

The anti-Mi-2 antibody is directed mainly to Mi-2β, a component of the nucleosome-remodeling deacetylase complex 27. Anti-Mi-2 antibody was detected in 3% of patients with JDM 25 and 12% of patients with adult DM 9. Anti-Mi-2 antibody-positive patients have a lower risk of ILD and typically respond well to therapy, although the recurrence of DM symptoms is possible 23.

The anti-nuclear matrix protein 2 (NXP2) antibody, originally termed anti-MJ antibody, was first identified in a cohort of patients with JDM/juvenile polymyositis (JPM). Generally, anti-NXP2 antibody-positive myopathy is related to either DM or polymyositis (PM) phenotypes. Cohort studies have detected anti-NXP2 antibody in 22 to 25% of patients with JDM 25, 28. Another cohort study reported that severe myopathy characterized by muscle contractures and atrophy was associated with anti-NXP2 antibody-positive JDM 28. In contrast, anti-NXP2 antibody was detected in only 2.3% of patients with adult PM/DM 9. Moreover, two cohort studies of patients with adult PM/DM in Japan and the US suggested a possible association between anti-NXP2 antibody and malignancy 19, 29.

The anti-small ubiquitin-like modifier activating enzyme (anti-SAE) antibody, which was observed in about 6% of patients with DM 9, is associated with inflammatory myopathy with extensive rash and dysphagia 30, 31. The target autoantigen is a heterodimer of SAE1 (40 kDa) and SAE2 (90 kDa). ILD and malignancies were observed in, respectively, 42 and 21% of 46 previously reported patients with anti-SAE antibody-associated DM 31.

Characteristic cutaneous manifestations compared with muscle pathology findings
Myositis-specific autoantibodies are likely to be associated with distinct cutaneous manifestations ( Table 1). In the case of anti-MDA5 antibody-associated DM, cutaneous ulceration due to vascular injuries was related to rapidly progressive ILD 32, 33 and palmar violaceous macules/papules 32, 34, in which vasculopathy in the medium and small dermal vessels was frequently observed 32.

Severe cutaneous manifestations, including V-neck sign, shawl sign, heliotrope rash, Gottron’s papules/sign, and flagellate erythema, are often observed in patients with anti-TIF1γ antibody-associated DM 16, 17. Fiorentino et al. termed these characteristic cutaneous manifestations palmar hyperkeratotic papules, psoriasis-like lesions, and hypopigmented and “red on white” telangiectatic patches 22.

Mechanic’s hands, characterized by keratotic erythema on the sides of the thumbs and forefingers 35, are generally specific to patients with anti-synthetase syndrome, including those with anti-ARS antibody-associated DM 26.

Juvenile and adult myopathy patients positive for anti-NXP2 antibody have a high risk of calcinosis 36, although patients positive for anti-NXP2 antibody include those with JPM/PM. In contrast, anti-SAE antibody-positive patients with DM demonstrated extensive rash, including erythroderma with “angel wings” sign 31.

The histopathological findings of cutaneous lesions in DM include vacuolar degeneration of the basilar keratinocytes, lymphocytic inflammatory infiltrate around the dermal blood vessels, and interstitial mucin deposition. We previously analyzed the histological findings of finger lesions characterized according to myositis-specific autoantibodies (anti-ARS, anti-MDA5, and anti-TIF1γ) 37. Our study included finger skin specimens from 30, 19, and 25 cases positive for anti-ARS, anti-MDA5, and anti-TIF1γ antibodies classified according to cutaneous histopathological classifications—(i) interface dermatitis, (ii) psoriasiform dermatitis, (iii) eczematous reaction, and (iv) vascular injury—and also analyzed by immunohistochemistry to detect myxovirus resistance A (MxA) expression, which is usually associated with type I IFN activity. Finger eruptions of anti-ARS antibody-positive DM were histologically characterized by not only interface dermatitis but also psoriasiform dermatitis and eczematous reaction, which were rarely observed in the other patients with DM. Dyskeratotic cells were frequently observed in anti-ARS antibody-positive DM, while vascular injury in the upper dermis was found in anti-MDA5 antibody-positive DM. MxA expression in the epidermis was high in anti-MDA5 antibody-positive DM and rarely observed in anti-ARS antibody-positive DM. The conclusion is shown in Figure 1. MxA expression was rarely observed in the muscle biopsy samples. Previous studies also identified anti-synthetase syndrome as a histological subset in muscle biopsy samples among patients with idiopathic inflammatory myositis, which was characterized by perifascicular necrosis 38 and negative MxA expression, which is generally highly expressed in the muscle fibers of patients with DM 39. Moreover, a recent study reported that plasma IFN-α levels and the expression of IFN-inducible molecules from peripheral blood mononuclear cells and skin biopsies were higher in anti-MDA5 antibody-associated DM patients than those in anti-ARS antibody-associated or autoantibody-negative DM patients 40. Collectively, our findings indicate that these histological characteristics are shared between skin, muscle, and blood samples of patients with DM; that anti-ARS antibody-positive patients are clearly distinguished from other DM subgroups; and that the pathogenesis of anti-MDA5 antibody-associated DM is mediated mainly by type I IFN.

Figure 1.

An external file that holds a picture, illustration, etc.
Object name is f1000research-8-22708-g0000.jpg
Histopathological classification of skin eruptions in myositis-specific autoantibody-associated groups.
The anti-aminoacyl-transfer RNA synthetase (ARS) antibody-positive dermatomyositis (DM) group is characterized by a mixture of psoriasiform dermatitis and eczematous reaction with interface dermatitis mainly presenting dyskeratotic cells and without epidermal expression of myxovirus resistance A (MxA). Vascular injury in the upper dermis and high epidermal expression of MxA are observed in patients with anti-melanoma differentiation-associated protein 5 (anti-MDA5) antibody-positive DM. Epidermal expression of MxA is also detected in patients with anti-transcriptional intermediary factor 1γ (TIF1γ) antibody-positive DM. IFN, interferon.
Further studies are needed to clarify the differences among the DM subgroups according to myositis-specific autoantibodies and to provide a basis for the development of subgroup-specific DM therapies.

Abbreviations
ARS, aminoacyl-transfer RNA synthetase; CADM, clinically amyopathic dermatomyositis; DM, dermatomyositis; IFN, interferon; ILD, interstitial lung disease; JDM, juvenile dermatomyositis; tripartite motif, JPM, juvenile polymyositis; MDA5, melanoma differentiation-associated protein 5; MxA, myxovirus resistance A; PM, polymyositis; RP-ILD, rapidly progressive interstitial lung disease; SAE, small ubiquitin-like modifier activating enzyme; TIF1γ, transcriptional intermediary factor 1γ; TRIM; NXP2, nuclear matrix protein 2

Acknowledgments
We thank Ichizo Nishino (Department of Neuromuscular Research, National Institute of Neuroscience and Department of Genome Medicine Development, Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan) for his helpful discussions.

Notes
[version 1; peer review: 3 approved]

Funding Statement
The research included in this article was supported by JSPS KAKENHI (grant numbers JP 18K08263 and JP 18H02829) and by an AMED Practical Research Project for Rare/Intractable Diseases (Innovation Research in Autoimmune Diseases).

The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.

Editorial Note on the Review Process

F1000 Faculty Reviews are commissioned from members of the prestigious F1000 Faculty and are edited as a service to readers. In order to make these reviews as comprehensive and accessible as possible, the referees provide input before publication and only the final, revised version is published. The referees who approved the final version are listed with their names and affiliations but without their reports on earlier versions (any comments will already have been addressed in the published version).

The referees who approved this article are:

Lisa Christopher-Stine, Department of Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA
No competing interests were disclosed.
Samuel Katsuyuki Shinjo, Division of Rheumatology, Faculdade de Medicina, Universidade de Sao Paulo, Sao Paulo, SP, Brazil
No competing interests were disclosed.
Guochun Wang, Department of Rheumatology, China-Japan Friendship Hospital, Beijing, China
No competing interests were disclosed.

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