医学論文機械翻訳例（１）TIF1γ

REFERENCES

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

1-References

1-1 Carstens PO, Schmidt JDiagnosis, pathogenesis and treatment of myositis: Recent advances. Clin Exp Immunol. 2014;175(3):349–58. - PMC - PubMed
1-2 Dalakas MCInflammatory muscle diseases. N Engl J Med. 2015;372(18):1734–47. - PubMed
Furst DE, Amato AA, Iorga SR, Gajria K, Fernandes AWEpidemiology of adult idiopathic inflammatory myopathies in a U. S. managed care plan. Muscle Nerve. 2012;45(5):676–83. - PubMed
1-3 Senecal JL, Raynauld JP, Troyanov YEditorial: A New Classification of Adult Autoimmune Myositis. Arthritis Rheumatol. 2017;69(5):878–84. - PubMed
1-4 van der Meulen MFG, Bronner IM, Hoogendijk JE, Burger H, van Venrooij WJ, Voskuyl AE, et al.. Polymyositis - An overdiagnosed entity. Neurology. 2003;61(3):316–21. - PubMed

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.

References

2-1.Senecal JL Raynauld JP Troyanov Y
Editorial: a new classification of adult autoimmune myositis.
Arthritis Rheumatol. 2017; 69: 878-884
View in Article Scopus (9)
2-2.Lundberg IE Tjarnlund A Bottai M et al.
2017 European League Against Rheumatism/American College of Rheumatology classification criteria for adult and juvenile idiopathic inflammatory myopathies and their major subgroups.
Ann Rheum Dis. 2017; 76: 1955-1964
View in Article Scopus (118)
2-3.Dalakas MC
Inflammatory muscle diseases.
N Engl J Med. 2015; 373: 393-394
View in Article Scopus (0)
2-4.Betteridge Z McHugh N
Myositis-specific autoantibodies: an important tool to support diagnosis of myositis.
J Intern Med. 2016; 280: 8-23
View in Article Scopus (131)
2-5.Paganoni S Amato A
Electrodiagnostic evaluation of myopathies.
Phys Med Rehabil Clin N Am. 2013; 24: 193-207
View in Article Scopus (25)
2-6.Pinal-Fernandez I Casal-Dominguez M Carrino JA et al.
Thigh muscle MRI in immune-mediated necrotising myopathy: extensive oedema, early muscle damage and role of anti-SRP autoantibodies as a marker of severity.
Ann Rheum Dis. 2017; 76: 681-687
View in Article Scopus (47)
2-7.Shirani Z Kucenic MJ Carroll CL et al.
Pruritus in adult dermato-myositis.
Clin Exp Dermatol. 2004; 29: 273-276
View in Article Scopus (0)
2-8.Suarez-Calvet X Gallardo E Pinal-Fernandez I et al.
RIG-I expression in perifascicular myofibers is a reliable biomarker of dermatomyositis.
Arthritis Res Ther. 2017; 19: 174
View in Article Scopus (2)
2-9.Pinal-Fernandez I Casciola-Rosen LA Christopher-Stine L Corse AM Mammen AL
The prevalence of individual histopathologic features varies according to autoantibody status in muscle biopsies from patients with dermatomyositis.
J Rheumatol. 2015; 42: 1448-1454
View in Article Scopus (39)
2-10.Uruha A Nishikawa A Tsuburaya RS et al.
Sarcoplasmic MxA expression: a valuable marker of dermatomyositis.
Neurology. 2017; 88: 493-500
View in Article Scopus (35)
2-11.Dalakas MC
Muscle biopsy findings in inflammatory myopathies.
Rheum Dis Clin North Am. 2002; 28: 779-798
View in Article Scopus (0)
2-12.Ghirardello A Zampieri S Iaccarino L et al.
Anti-Mi-2 antibodies.
Autoimmunity. 2005; 38: 79-83
View in Article Scopus (0)
2-13.Albayda J Pinal-Fernandez I Huang W et al.
Antinuclear matrix protein 2 autoantibodies and edema, muscle disease, and malignancy risk in dermatomyositis patients.
Arthritis Care Res (Hoboken). 2017; 69: 1771-1776
View in Article Scopus (0)
2-14.Fiorentino DF Chung LS Christopher-Stine L et al.
Most patients with cancer-associated dermatomyositis have antibodies to nuclear matrix protein NXP-2 or transcription intermediary factor 1gamma.
Arthritis Rheum. 2013; 65: 2954-2962
View in Article Scopus (170)
2-15.Trallero-Araguas E Rodrigo-Pendas JA Selva-O'Callaghan A et al.
Usefulness of anti-p155 autoantibody for diagnosing cancer-associated dermatomyositis: a systematic review and meta-analysis.
Arthritis Rheum. 2012; 64: 523-532
View in Article Scopus (178)
2-16.Ge Y Lu X Shu X Peng Q Wang G
Clinical characteristics of anti-SAE antibodies in Chinese patients with dermatomyositis in comparison with different patient cohorts.
Sci Rep. 2017; 7: 188
View in Article Scopus (8)
2-17.Labrador-Horrillo M Martinez MA Selva-O'Callaghan A et al.
Anti-MDA5 antibodies in a large Mediterranean population of adults with dermatomyositis.
J Immunol Res. 2014; 2014: 290797
View in Article Scopus (86)
2-18.Sato S Hoshino K Satoh T et al.
RNA helicase encoded by melanoma differentiation-associated gene 5 is a major autoantigen in patients with clinically amyopathic dermatomyositis: association with rapidly progressive interstitial lung disease.
Arthritis Rheum. 2009; 60: 2193-2200
View in Article Scopus (292)
2-19.Narang NS Casciola-Rosen L Li S Chung L Fiorentino DF
Cutaneous ulceration in dermatomyositis: association with anti-melanoma differentiation-associated gene 5 antibodies and interstitial lung disease.
Arthritis Care Res (Hoboken). 2015; 67: 667-672
View in Article Scopus (0)
2-20.Bodoki L Budai D Nagy-Vincze M Griger Z Betteridge Z Dankó K
Comparison of clinical characteristics and laboratory parameters of patients with dermatomyositis-specific autoantibodies and autoantibody negative patients.
Orv Hetil. 2015; 156: 1451-1459
View in Article Scopus (0)
2-21.Pinal-Fernandez I Parks C Werner JL et al.
Longitudinal course of disease in a large cohort of myositis patients with autoantibodies recognizing the signal recognition particle.
Arthritis Care Res (Hoboken). 2017; 69: 263-270
View in Article Scopus (0)
2-22.Suzuki S Nishikawa A Kuwana M et al.
Inflammatory myopathy with anti-signal recognition particle antibodies: case series of 100 patients.
Orphanet J Rare Dis. 2015; 10: 61
View in Article Scopus (72)
2-23.Watanabe Y Uruha A Suzuki S et al.
Clinical features and prognosis in anti-SRP and anti-HMGCR necrotising myopathy.
J Neurol Neurosurg Psychiatry. 2016; 87: 1038-1044
View in Article Scopus (89)
2-24.Christopher-Stine L Casciola-Rosen LA Hong G Chung T Corse AM Mammen AL
A novel autoantibody recognizing 200-kd and 100-kd proteins is associated with an immune-mediated necrotizing myopathy.
Arthritis Rheum. 2010; 62: 2757-2766
View in Article Scopus (279)
2-25.Tiniakou E Pinal-Fernandez I Lloyd TE et al.
More severe disease and slower recovery in younger patients with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase-associated autoimmune myopathy.
Rheumatology (Oxford). 2017; 56: 787-794
2-26.Mammen AL Chung T Christopher-Stine L et al.
Autoantibodies against 3-hydroxy-3-methylglutaryl-coenzyme A reductase in patients with statin-associated autoimmune myopathy.
Arthritis Rheum. 2011; 63: 713-721
View in Article Scopus (379)
2-27.Lloyd TE Mammen AL Amato AA Weiss MD Needham M Greenberg SA
Evaluation and construction of diagnostic criteria for inclusion body myositis. Neurology. 2014; 83: 426-433
View in Article Scopus (91)
2-28.Pinal-Fernandez I Casal-Dominguez M Huapaya JA et al.
A longitudinal cohort study of the anti-synthetase syndrome: increased severity of interstitial lung disease in black patients and patients with anti-PL7 and anti-PL12 autoantibodies. Rheumatology (Oxford). 2017; 56: 999-1007
View in Article Scopus (0)
2-29.Trallero-Araguas E Grau-Junyent JM Labirua-Iturburu A et al.
Clinical manifestations and long-term outcome of anti-Jo1 antisynthetase patients in a large cohort of Spanish patients from the GEAS-IIM group.Semin Arthritis Rheum. 2016; 46: 225-231
2-30.Guillen-Del Castillo A Pilar Simeon-Aznar C Fonollosa-Pla V et al.
Good outcome of interstitial lung disease in patients with scleroderma associated to anti-PM/Scl antibody.
Semin Arthritis Rheum. 2014; 44: 331-337
2-31.Rigolet A Musset L Dubourg O et al.
Inflammatory myopathies with anti-Ku antibodies: a prognosis dependent on associated lung disease.
Medicine (Baltimore). 2012; 91: 95-102
View in Article Scopus (0)
2-32.Escola-Verge L Pinal-Fernandez I Fernandez-Codina A et al.
Mixed connective tissue disease and epitope spreading: a historical cohort study.
J Clin Rheumatol. 2017; 23: 155-159
View in Article
Scopus (1)
PubMed
Crossref
Google Scholar
33.Selva-O'Callaghan A Grau JM Gamez-Cenzano C et al.
Conventional cancer screening versus PET/CT in dermatomyositis/polymyositis.
Am J Med. 2010; 123: 558-562
View in Article
Scopus (75)
PubMed
Summary
Full Text
Full Text PDF
Google Scholar
34.Miller FW Chen W O'Hanlon TP et al.
Genome-wide association study identifies HLA 8.1 ancestral haplotype alleles as major genetic risk factors for myositis phenotypes.
Genes Immun. 2015; 16: 470-480
View in Article
Scopus (24)
PubMed
Crossref
Google Scholar
35.Mamyrova G Rider LG Ehrlich A et al.
Environmental factors associated with disease flare in juvenile and adult dermatomyositis.
Rheumatology (Oxford). 2017; 56: 1342-1347
View in Article
Scopus (0)
PubMed
Crossref
Google Scholar
36.Pinal-Fernandez I Ferrer-Fabregas B Trallero-Araguas E et al.
Tumour TIF1 mutations and loss of heterozygosity related to cancer-associated myositis.
Rheumatology (Oxford). 2018; 57: 388-396
View in Article
Scopus (21)
PubMed
Crossref
Google Scholar
37.Greenberg SA Pinkus JL Pinkus GS et al.
Interferon-alpha/beta-mediated innate immune mechanisms in dermatomyositis.
Ann Neurol. 2005; 57: 664-678
View in Article
Scopus (384)
PubMed
Crossref
Google Scholar
38.Chung T Christopher-Stine L Paik JJ Corse A Mammen AL
The composition of cellular infiltrates in anti-HMG-CoA reductase-associated myopathy.
Muscle Nerve. 2015; 52: 189-195
View in Article
Scopus (48)
PubMed
Crossref
Google Scholar
39.Allenbach Y Arouche-Delaperche L Preusse C et al.
Necrosis in anti-SRP(+) and anti-HMGCR(+) myopathies: role of autoantibodies and complement.
Neurology. 2018; 90: e507-e517
View in Article
Scopus (4)
PubMed
Crossref
Google Scholar
40.Allenbach Y Mammen AL Stenzel W Benveniste O Immune-Mediated Necrotizing Myopathies Working Group
224th ENMC International Workshop: clinico-sero-pathological classification of immune-mediated necrotizing myopathies Zandvoort, The Netherlands, Oct 14–16, 2016.
Neuromuscul Disord. 2018; 28: 87-99
View in Article
Scopus (0)
PubMed
Summary
Full Text
Full Text PDF
Google Scholar
41.Allenbach Y Keraen J Bouvier AM et al.
High risk of cancer in autoimmune necrotizing myopathies: usefulness of myositis specific antibody.
Brain. 2016; 139: 2131-2135
View in Article
Scopus (85)
42.Targoff IN Johnson AE Miller FW
Antibody to signal recognition particle in polymyositis.
Arthritis Rheum. 1990; 33: 1361-1370
43.Kao AH Lacomis D Lucas M Fertig N Oddis CV
Anti-signal recognition particle autoantibody in patients with and patients without idiopathic inflammatory myopathy.
Arthritis Rheum. 2004; 50: 209-215
View in Article
Scopus (208)
PubMed
Crossref
Google Scholar
44.Chen F Peng Y Chen M
Diagnostic Approach to Cardiac Involvement in Idiopathic Inflammatory Myopathies.
Int Heart J. 2018; 59: 256-262
View in Article
Scopus (0)
PubMed
Crossref
Google Scholar
45.Ohnuki Y Suzuki S Shiina T et al.
HLA-DRB1 alleles in immune-mediated necrotizing myopathy.
Neurology. 2016; 87: 1954-1955
View in Article
Scopus (12)
PubMed
Crossref
Google Scholar
46.Mammen AL Gaudet D Brisson D et al.
Increased frequency of DRB1*11:01 in anti-hydroxymethylglutaryl-coenzyme A reductase-associated autoimmune myopathy.
Arthritis Care Res (Hoboken). 2012; 64: 1233-1237
View in Article
Scopus (123)
PubMed
Crossref
Google Scholar
47.Limaye V Bundell C Hollingsworth P et al.
Clinical and genetic associations of autoantibodies to 3-hydroxy-3-methyl-glutaryl-coenzyme a reductase in patients with immune-mediated myositis and necrotizing myopathy.
Muscle Nerve. 2015; 52: 196-203
View in Article
Scopus (60)
PubMed
Crossref
Google Scholar
48.Selva-O'Callaghan A Alvarado-Cardenas M Pinal-Fernández I et al.
Statin-induced myalgia and myositis: an update on pathogenesis and clinical recommendations.
Expert Rev Clin Immunol. 2018; 14: 215-224
View in Article
Scopus (16)
PubMed
Crossref
Google Scholar
49.Arouche-Delaperche L Allenbach Y Amelin D et al.
Pathogenic role of anti-signal recognition protein and anti-3-Hydroxy-3-methylglutaryl-CoA reductase antibodies in necrotizing myopathies: myofiber atrophy and impairment of muscle regeneration in necrotizing autoimmune myopathies.
Ann Neurol. 2017; 81: 538-548
View in Article
Scopus (0)
PubMed
Crossref
Google Scholar
50.Lloyd TE Christopher-Stine L Pinal-Fernandez I et al.
Cytosolic 5′-nucleotidase 1A as a target of circulating autoantibodies in autoimmune diseases.
Arthritis Care Res (Hoboken). 2016; 68: 66-71
View in Article
PubMed
Crossref
Google Scholar
51.Herbert MK Stammen-Vogelzangs J Verbeek MM et al.
Disease specificity of autoantibodies to cytosolic 5′-nucleotidase 1A in sporadic inclusion body myositis versus known autoimmune diseases.
Ann Rheum Dis. 2016; 75: 696-701
View in Article
Scopus (0)
PubMed
Crossref
Google Scholar
52.Muro Y Nakanishi H Katsuno M Kono M Akiyama M
Prevalence of anti-NT5C1A antibodies in Japanese patients with autoimmune rheumatic diseases in comparison with other patient cohorts.
Clin Chim Acta. 2017; 472: 1-4
View in Article
Scopus (5)
PubMed
Crossref
Google Scholar
53.Lilleker JB Rietveld A Pye SR et al.
Cytosolic 5′-nucleotidase 1A autoantibody profile and clinical characteristics in inclusion body myositis.
Ann Rheum Dis. 2017; 76: 862-868
View in Article
Scopus (0)
PubMed
Crossref
Google Scholar
54.Rojana-Udomsart A Bundell C James I et al.
Frequency of autoantibodies and correlation with HLA-DRB1 genotype in sporadic inclusion-body myositis (s-IBM): a population control study.
J Neuroimmunol. 2012; 249: 66-70
View in Article
Scopus (0)
PubMed
Summary
Full Text
Full Text PDF
Google Scholar
55.Tasca G Monforte M De Fino C Kley RA Ricci E Mirabella M
Magnetic resonance imaging pattern recognition in sporadic inclusion-body myositis.
Muscle Nerve. 2015; 52: 956-962
View in Article
Scopus (25)
PubMed
Crossref
Google Scholar
56.Greenberg SA Pinkus JL Amato AA Kristensen T Dorfman DM
Association of inclusion body myositis with T cell large granular lymphocytic leukaemia.
Brain. 2016; 139: 1348-1360
View in Article
Scopus (0)
PubMed
Crossref
Google Scholar
57.Van De Vlekkert J Maas M Hoogendijk JE De Visser M Van Schaik IN
Combining MRI and muscle biopsy improves diagnostic accuracy in subacute-onset idiopathic inflammatory myopathy.
Muscle Nerve. 2015; 51: 253-258
View in Article
Scopus (27)
PubMed
Crossref
Google Scholar
58.Catalan-Garcia M Garrabou G Moren C et al.
Mitochondrial DNA disturbances and deregulated expression of oxidative phosphorylation and mitochondrial fusion proteins in sporadic inclusion body myositis.
Clin Sci (Lond). 2016; 130: 1741-1751
View in Article
Scopus (5)
PubMed
Crossref
Google Scholar
59.Rygiel KA Tuppen HA Grady JP et al.
Complex mitochondrial DNA rearrangements in individual cells from patients with sporadic inclusion body myositis.
Nucleic Acids Res. 2016; 44: 5313-5329
View in Article
PubMed
Crossref
Google Scholar
60.Greenberg SA Pinkus JL Amato AA
Nuclear membrane proteins are present within rimmed vacuoles in inclusion-body myositis.
Muscle Nerve. 2006; 34: 406-416
View in Article
Scopus (0)
PubMed
Crossref
Google Scholar
61.Guttsches AK Brady S Krause K et al.
Proteomics of rimmed vacuoles define new risk allele in inclusion body myositis.
Ann Neurol. 2017; 81: 227-239
View in Article
Scopus (6)
PubMed
Crossref
Google Scholar
62.Catalan-Garcia M Garrabou G Moren C et al.
BACE-1, PS-1 and sAPPbeta levels are increased in plasma from sporadic inclusion body myositis patients: surrogate biomarkers among inflammatory myopathies.
Mol Med. 2015; 21: 817-823
View in Article
Scopus (0)
Crossref
Google Scholar
63.Goyal NA Cash TM Alam U et al.
Seropositivity for NT5c1A antibody in sporadic inclusion body myositis predicts more severe motor, bulbar and respiratory involvement.
J Neurol Neurosurg Psychiatry. 2016; 87: 373-378
View in Article
Scopus (37)
PubMed
Crossref
Google Scholar
64.Tawara N Yamashita S Zhang X et al.
Pathomechanisms of anti-cytosolic 5′-nucleotidase 1A autoantibodies in sporadic inclusion body myositis.
Ann Neurol. 2017; 81: 512-525
View in Article
Scopus (0)
PubMed
Crossref
Google Scholar
65.Andersson H Kirkhus E Garen T Walle-Hansen R Merckoll E Molberg O
Comparative analyses of muscle MRI and muscular function in anti-synthetase syndrome patients and matched controls: a cross-sectional study.
Arthritis Res Ther. 2017; 19: 17
View in Article
Scopus (5)
PubMed
Crossref
Google Scholar
66.Mescam-Mancini L Allenbach Y Hervier B et al.
Anti-Jo-1 antibody-positive patients show a characteristic necrotizing perifascicular myositis.
Brain. 2015; 138: 2485-2492
View in Article
Scopus (76)
PubMed
Crossref
Google Scholar
67.Noguchi E Uruha A Suzuki S et al.
Skeletal muscle involvement in antisynthetase syndrome.
JAMA Neurol. 2017; 74: 992-999
View in Article
Scopus (42)
PubMed
Crossref
Google Scholar
68.Stenzel W Preusse C Allenbach Y et al.
Nuclear actin aggregation is a hallmark of anti-synthetase syndrome-induced dysimmune myopathy.
Neurology. 2015; 84: 1346-1354
View in Article
Scopus (31)
PubMed
Crossref
Google Scholar
69.Rojana-udomsart A Needham M Luo YB et al.
The association of sporadic inclusion body myositis and Sjogren's syndrome in carriers of HLA-DR3 and the 8.1 MHC ancestral haplotype.
Clin Neurol Neurosurg. 2011; 113: 559-563
View in Article
Scopus (0)
PubMed
Crossref
Google Scholar
70.van der Meulen MF Bronner IM Hoogendijk JE et al.
Polymyositis: an overdiagnosed entity.
Neurology. 2003; 61: 316-321
View in Article
PubMed
Crossref
Google Scholar
71.Chahin N Engel AG
Correlation of muscle biopsy, clinical course, and outcome in PM and sporadic IBM.
Neurology. 2008; 70: 418-424
View in Article
Scopus (156)
PubMed
Crossref
Google Scholar
72.Vilela VS Prieto-Gonzalez S Milisenda JC Selva-O'Callaghan A Grau JM
Polymyositis, a very uncommon isolated disease: clinical and histological re-evaluation after long-term follow-up.
Rheumatol Int. 2015; 35: 915-920
View in Article
Scopus (7)
PubMed
Crossref
Google Scholar
73.Alemo Munters L Dastmalchi M Andgren V et al.
Improvement in health and possible reduction in disease activity using endurance exercise in patients with established polymyositis and dermatomyositis: a multicenter randomized controlled trial with a 1-year open extension followup.
Arthritis Care Res (Hoboken). 2013; 65: 1959-1968
View in Article
Scopus (0)
PubMed
Crossref
Google Scholar
74.Alexanderson H Munters LA Dastmalchi M et al.
Resistive home exercise in patients with recent-onset polymyositis and dermatomyositis—a randomized controlled single-blinded study with a 2-year followup.
J Rheumatol. 2014; 41: 1124-1132
View in Article
Scopus (32)
PubMed
Crossref
Google Scholar
75.Gordon PA Winer JB Hoogendijk JE Choy EH
Immunosuppressant and immunomodulatory treatment for dermatomyositis and polymyositis.
Cochrane Database Syst Rev. 2012; 8 (CD003643.)
View in Article
Google Scholar
76.van de Vlekkert J Hoogendijk JE de Haan RJ et al.
Dexa myositis trial. Oral dexamethasone pulse therapy versus daily prednisolone in sub-acute onset myositis, a randomised clinical trial.
Neuromuscul Disord. 2010; 20: 382-389
View in Article
Scopus (0)
PubMed
Summary
Full Text
Full Text PDF
Google Scholar
77.Vencovsky J Jarosova K Machacek S et al.
Cyclosporine A versus methotrexate in the treatment of polymyositis and dermatomyositis.
Scand J Rheumatol. 2000; 29: 95-102
View in Article
PubMed
Crossref
Google Scholar
78.Go DJ Park JK Kang EH et al.
Survival benefit associated with early cyclosporine treatment for dermatomyositis-associated interstitial lung disease.
Rheumatol Int. 2016; 36: 125-131
View in Article
Scopus (8)
PubMed
Crossref
Google Scholar
79.Labirua-Iturburu A Selva-O'Callaghan A Martinez-Gomez X Trallero-Araguas E Labrador-Horrillo M Vilardell-Tarres M
Calcineurin inhibitors in a cohort of patients with antisynthetase-associated interstitial lung disease.
Clin Exp Rheumatol. 2013; 31: 436-439
View in Article
PubMed
Google Scholar
80.Morganroth PA Kreider ME Werth VP
Mycophenolate mofetil for interstitial lung disease in dermatomyositis.
Arthritis Care Res (Hoboken). 2010; 62: 1496-1501
View in Article
Scopus (0)
PubMed
Crossref
Google Scholar
81.Barnes H Holland AE Westall GP Goh NS Glaspole IN
Cyclophosphamide for connective tissue disease-associated interstitial lung disease.
Cochrane Database Syst Rev. 2018; 1 (CD010908.)
View in Article
Google Scholar
82.Dalakas MC Illa I Dambrosia JM et al.
A controlled trial of high-dose intravenous immune globulin infusions as treatment for dermatomyositis.
N Engl J Med. 1993; 329: 1993-2000
View in Article
Scopus (831)
PubMed
Crossref
Google Scholar
83.Kampylafka EI Kosmidis ML Panagiotakos DB Dalakas M Moutsopoulos HM Tzioufas AG
The effect of intravenous immunoglobulin (IVIG) treatment on patients with dermatomyositis: a 4-year follow-up study.
Clin Exp Rheumatol. 2012; 30: 397-401
View in Article
PubMed
Google Scholar
84.Oddis CV Reed AM Aggarwal R et al.
Rituximab in the treatment of refractory adult and juvenile dermatomyositis and adult polymyositis: a randomized, placebo-phase trial.
Arthritis Rheum. 2013; 65: 314-324
View in Article
Scopus (279)
PubMed
Crossref
Google Scholar
85.Aggarwal R Bandos A Reed AM et al.
Predictors of clinical improvement in rituximab-treated refractory adult and juvenile dermatomyositis and adult polymyositis.
Arthritis Rheumatol. 2014; 66: 740-749
View in Article
Scopus (0)
PubMed
Crossref
Google Scholar
86.Tjarnlund A Tang Q Wick C et al.
Abatacept in the treatment of adult dermatomyositis and polymyositis: a randomised, phase IIb treatment delayed-start trial.
Ann Rheum Dis. 2018; 77: 55-62
View in Article
Scopus (5)
PubMed
Crossref
Google Scholar
87.Narazaki M Hagihara K Shima Y Ogata A Kishimoto T Tanaka T
Therapeutic effect of tocilizumab on two patients with polymyositis.
Rheumatology (Oxford). 2011; 50: 1344-1346
View in Article
Scopus (0)
PubMed
Crossref
Google Scholar
88.Mammen AL Tiniakou E
Intravenous Immune Globulin for Statin-Triggered Autoimmune Myopathy.
N Engl J Med. 2015; 373: 1680-1682
View in Article
Scopus (58)
PubMed
Crossref
Google Scholar
89.Cherin P Belizna C Cartry O et al.
Long-term subcutaneous immunoglobulin use in inflammatory myopathies: a retrospective review of 19 cases.
Autoimmun Rev. 2016; 15: 281-286
View in Article
PubMed
Crossref
Google Scholar
90.Allenbach Y Guiguet M Rigolet A et al.
Efficacy of rituximab in refractory inflammatory myopathies associated with anti-synthetase auto-antibodies: an open-label, phase II trial.
PLoS One. 2015; 10: e0133702
View in Article
Scopus (17)
PubMed
Crossref
Google Scholar
91.Andersson H Sem M Lund MB et al.
Long-term experience with rituximab in anti-synthetase syndrome-related interstitial lung disease.
Rheumatology (Oxford). 2015; 54: 1420-1428
View in Article
Scopus (0)
PubMed
Crossref
Google Scholar
92.Chen D Wang XB Zhou Y Zhu XC
Efficacy of infliximab in the treatment for dermatomyositis with acute interstitial pneumonia: a study of fourteen cases and literature review.
Rheumatol Int. 2013; 33: 2455-2458
View in Article
Scopus (12)
PubMed
Crossref
Google Scholar
93.Muscle Study Group
A randomized, pilot trial of etanercept in dermatomyositis.
Ann Neurol. 2011; 70: 427-436
View in Article
Scopus (0)
PubMed
Crossref
Google Scholar
94.Schiffenbauer A Garg M Castro C et al.
A randomized, double-blind, placebo-controlled trial of infliximab in refractory polymyositis and dermatomyositis.
Semin Arthritis Rheum. 2018; 47: 858-864
View in Article
Scopus (14)
PubMed
Crossref
Google Scholar
95.Zong M Dorph C Dastmalchi M et al.
Anakinra treatment in patients with refractory inflammatory myopathies and possible predictive response biomarkers: a mechanistic study with 12 months follow-up.
Ann Rheum Dis. 2014; 73: 913-920
View in Article
Scopus (33)
PubMed
Crossref
Google Scholar
96.Ruck T Bittner S Kuhlmann T Wiendl H Meuth SG
Long-term efficacy of alemtuzumab in polymyositis.
Rheumatology (Oxford). 2015; 54: 560-562
View in Article
Scopus (6)
PubMed
Crossref
Google Scholar
97.Kurtzman DJ Wright NA Lin J et al.
Tofacitinib citrate for refractory cutaneous dermatomyositis: an alternative treatment.
JAMA Dermatol. 2016; 152: 944-945
View in Article
Scopus (77)
PubMed
Crossref
Google Scholar
98.Hornung T Janzen V Heidgen FJ Wolf D Bieber T Wenzel J
Remission of recalcitrant dermatomyositis treated with ruxolitinib.
N Engl J Med. 2014; 371: 2537-2538
View in Article
Scopus (60)
PubMed
Crossref
Google Scholar
99.Benveniste O Guiguet M Freebody J et al.
Long-term observational study of sporadic inclusion body myositis.
Brain. 2011; 134: 3176-3184
View in Article
Scopus (167)
PubMed
Crossref
Google Scholar
100.Kosmidis ML Alexopoulos H Tzioufas AG Dalakas MC
The effect of anakinra, an IL1 receptor antagonist, in patients with sporadic inclusion body myositis (sIBM): a small pilot study.
J Neurol Sci. 2013; 334: 123-125
View in Article
Scopus (0)
PubMed
Summary
Full Text
Full Text PDF
Google Scholar
101.Schmidt K Kleinschnitz K Rakocevic G Dalakas MC Schmidt J
Molecular treatment effects of alemtuzumab in skeletal muscles of patients with IBM.
BMC Neurol. 2016; 16: 48
View in Article
Scopus (6)
PubMed
Crossref
Google Scholar
102.Amato AA Sivakumar K Goyal N et al.
Treatment of sporadic inclusion body myositis with bimagrumab.
Neurology. 2014; 83: 2239-2246
View in Article
PubMed
Crossref
Google Scholar
103.Mendell JR Sahenk Z Al-Zaidy S et al.
Follistatin gene therapy for sporadic inclusion body myositis improves functional outcomes.
Mol Ther. 2017; 25: 870-879
View in Article
Scopus (35)
PubMed
Summary
Full Text
Full Text PDF
Google Scholar
104.Benveniste O Hogrel JY Annoussamy M et al.
Rapamycin vs. placebo for the treatment of inclusion body myositis: improvement of the 6 min walking distance, a functional scale, the fvc and muscle quantitative MRI.
Arthritis Rheumatol. 2017; 69 (abstr).
View in Article
PubMed
Google Scholar
105.Rutkove SB Parker RA Nardin RA Connolly CE Felice KJ Raynor EM
A pilot randomized trial of oxandrolone in inclusion body myositis.
Neurology. 2002; 58: 1081-1087
View in Article
PubMed
Crossref
Google Scholar
106.Sancricca C Mora M Ricci E Tonali PA Mantegazza R Mirabella M
Pilot trial of simvastatin in the treatment of sporadic inclusion-body myositis.
Neurol Sci. 2011; 32: 841-847
View in Article
Scopus (27)
107.Cherin P Pelletier S Teixeira A et al.
Intravenous immunoglobulin for dysphagia of inclusion body myositis.
Neurology. 2002; 58: 326
View in Article
108.Murata KY Kouda K Tajima F Kondo T
Balloon dilation in sporadic inclusion body myositis patients with dysphagia.
Clin Med Insights Case Rep. 2013; 6: 1-7
View in Article
Scopus (16)
109.Schrey A Airas L Jokela M Pulkkinen J
Botulinum toxin alleviates dysphagia of patients with inclusion body myositis.
J Neurol Sci. 2017; 380: 142-147
View in Article
Scopus (9)
110.Teruya A Kawamura K Ichikado K Sato S Yasuda Y Yoshioka M
Successful polymyxin B hemoperfusion treatment associated with serial reduction of serum anti-CADM-140/MDA5 antibody levels in rapidly progressive interstitial lung disease with amyopathic dermatomyositis.
Chest. 2013; 144: 1934-1936
View in Article
Scopus (0)
111.Morisset J Johnson C Rich E Collard HR Lee JS
Management of myositis-related interstitial lung disease.
Chest. 2016; 150: 1118-1128
View in Article Scopus (0)

3 Lundberg IE, de Visser M, Werth VP. Classification of myositis. Nat Rev Rheumatol
2018;14:269–78.

References
3-1 J Neurol Neurosurg Psychiatry. 2013 Nov;84(11):1240-6 - PubMed
3-2 J Am Acad Dermatol. 2006 Apr;54(4):597-613 - PubMed
3-3 N Engl J Med. 1975 Feb 13;292(7):344-7 - PubMed
3-4 N Engl J Med. 1991 Nov 21;325(21):1487-98 - PubMed
3-5Acta Neuropathol Commun. 2014 Oct 23;2:154 - PubMed

4 Benveniste O, Goebel H-H,
Stenzel W. Biomarkers in inflammatory Myopathies-An
expanded definition. Front Neurol 2019;10:554.

References

Benveniste O, Stenzel W, Allenbach Y. Advances in serological diagnostics of inflammatory myopathies. Curr Opin Neurol. (2016) 29:662–73. 10.1097/WCO.0000000000000376 [PubMed] [CrossRef] [Google Scholar]
Allenbach Y, Benveniste O, Goebel HH, Stenzel W. Integrated classification of inflammatory myopathies. Neuropathol Appl Neurobiol. (2017) 43:62–81. 10.1111/nan.12380 [PubMed] [CrossRef] [Google Scholar]
Troyanov Y, Targoff IN, Tremblay JL, Goulet JR, Raymond Y, Senecal JL. Novel classification of idiopathic inflammatory myopathies based on overlap syndrome features and autoantibodies: analysis of 100 French Canadian patients. Medicine. (2005) 84:231–49. 10.1097/01.md.0000173991.74008.b0 [PubMed] [CrossRef] [Google Scholar]
Lundberg IE, Tjarnlund A, Bottai M, Werth VP, Pilkington C, de Visser M, et al.. 2017 European League Against Rheumatism/American College of Rheumatology Classification Criteria for Adult and Juvenile Idiopathic Inflammatory Myopathies and Their Major Subgroups. Arthritis Rheumatol. (2017) 69:2271–82. 10.1002/art.40320 [PMC free article] [PubMed] [CrossRef] [Google Scholar]
Lundberg IE, Tjarnlund A, Bottai M, Werth VP, Pilkington C, de Visser M, et al.. 2017 European League Against Rheumatism/American College of Rheumatology classification criteria for adult and juvenile idiopathic inflammatory myopathies and their major subgroups. Ann Rheum Dis. (2017) 76:1955–64. 10.1136/annrheumdis-2017-211468 [PMC free article] [PubMed] [CrossRef] [Google Scholar]
Bohan A, Peter JB. Polymyositis and dermatomyositis (second of two parts). N Engl J Med. (1975) 292:403–7. 10.1056/NEJM197502202920807 [PubMed] [CrossRef] [Google Scholar]
Bohan A, Peter JB. Polymyositis and dermatomyositis (first of two parts). N Engl J Med. (1975) 292: actin aggregation is a hallmark of anti-synthetase syndrome344–7. 10.1056/NEJM197502132920706 [PubMed] [CrossRef] [Google Scholar]
Stenzel W, Preusse C, Allenbach Y, Pehl D, Junckerstorff R, Heppner FL, et al.. Nuclear actin aggregation is a hallmark of anti-synthetase syndrome-induced dysimmune myopathy. Neurology. (2015) 84:1346–54. 10.1212/WNL.0000000000001422 [PubMed] [CrossRef] [Google Scholar]
Uruha A, Suzuki S, Suzuki N, Nishino I. Perifascicular necrosis in anti-synthetase syndrome beyond anti-Jo-1. Brain. (2016) 139(Pt. 9):e50. 10.1093/brain/aww125 [PubMed] [CrossRef] [Google Scholar]
Mescam-Mancini L, Allenbach Y, Hervier B, Devilliers H, Mariampillay K, Dubourg O, et al.. Anti-Jo-1 antibody-positive patients show a characteristic necrotizing perifascicular myositis. Brain. (2015) 138(Pt. 9):2485–92. 10.1093/brain/awv192 [PubMed] [CrossRef] [Google Scholar]
Mozaffar T, Pestronk A. Myopathy with anti-Jo-1 antibodies: pathology in perimysium and neighbouring muscle fibres. J Neurol Neurosurg Psychiatry. (2000) 68:472–8. 10.1136/jnnp.68.4.472 [PMC free article] [PubMed] [CrossRef] [Google Scholar]
Mariampillai K, Granger B, Amelin D, Guiguet M, Hachulla E, Maurier F, et al.. Development of a new classification system for idiopathic inflammatory myopathies based on clinical manifestations and myositis-specific autoantibodies. JAMA Neurol. (2018) 75:1528–37. 10.1001/jamaneurol.2018.2598 [PMC free article] [PubMed] [CrossRef] [Google Scholar]
Jacobs JFM, Bossuyt X. Standardization and harmonization of autoimmune diagnostics. Clin Chem Lab Med. (2018) 56:1563–7. 10.1515/cclm-2018-0807 [PubMed] [CrossRef] [Google Scholar]
Tozzoli R, Bizzaro N, Tonutti E, Villalta D, Bassetti D, Manoni F, et al.. Guidelines for the laboratory use of autoantibody tests in the diagnosis and monitoring of autoimmune rheumatic diseases. Am J Clin Pathol. (2002) 117:316–24. 10.1309/Y5VF-C3DM-L8XV-U053 [PubMed] [CrossRef] [Google Scholar]
Sirotti S, Generali E, Ceribelli A, Isailovic N, De Santis M, Selmi C. Personalized medicine in rheumatology: the paradigm of serum autoantibodies. Auto Immun Highlights. (2017) 8:10. 10.1007/s13317-017-0098-1 [PMC free article] [PubMed] [CrossRef] [Google Scholar]
Dalmau J, Graus F. Antibody-mediated encephalitis. N Engl J Med. (2018) 378:840–51. 10.1056/NEJMra1708712 [PubMed] [CrossRef] [Google Scholar]
Gilhus NE, Verschuuren JJ. Myasthenia gravis: subgroup classification and therapeutic strategies. Lancet Neurol. (2015) 14:1023–36. 10.1016/S1474-4422(15)00145-3 [PubMed] [CrossRef] [Google Scholar]
Pestronk A. Acquired immune and inflammatory myopathies: pathologic classification. Curr Opin Rheumatol. (2011) 23:595–604. 10.1097/BOR.0b013e32834bab42 [PubMed] [CrossRef] [Google Scholar]
Jungbluth H. Myopathology in times of modern imaging. Neuropathol Appl Neurobiol. (2017) 43:24–43. 10.1111/nan.12385 [PubMed] [CrossRef] [Google Scholar]
Volochayev R, Csako G, Wesley R, Rider LG, Miller FW. Laboratory test abnormalities are common in polymyositis and dermatomyositis and differ among clinical and demographic groups. Open Rheumatol J. (2012) 6:54–63. 10.2174/1874312901206010054 [PMC free article] [PubMed] [CrossRef] [Google Scholar]
Peake J, Nosaka K, Suzuki K. Characterization of inflammatory responses to eccentric exercise in humans. Exerc Immunol Rev. (2005) 11:64–85. [PubMed] [Google Scholar]
Peake JM, Neubauer O, Della Gatta PA, Nosaka K. Muscle damage and inflammation during recovery from exercise. J Appl Physiol. (2017) 122:559–70. 10.1152/japplphysiol.00971.2016 [PubMed] [CrossRef] [Google Scholar]
Goodall S, Thomas K, Barwood M, Keane K, Gonzalez JT, St. Clair Gibson A, et al.. Neuromuscular changes and the rapid adaptation following a bout of damaging eccentric exercise. Acta Physiol. (2017) 220:486–500. 10.1111/apha.12844 [PubMed] [CrossRef] [Google Scholar]
Margaritis I, Tessier F, Verdera F, Bermon S, Marconnet P. Muscle enzyme release does not predict muscle function impairment after triathlon. J Sports Med Phys Fitness. (1999) 39:133–9. [PubMed] [Google Scholar]
Feng J, Zen P, Liu Y, Luo J, Jiang W, Peng G. Serum enzyme profile characteristics of victims following the Wenchuan earthquake in China. Clin Chem Lab Med. (2009) 47:590–5. 10.1515/CCLM.2009.127 [PubMed] [CrossRef] [Google Scholar]
Aygun D, Gonullu H. The myopathic effects of electrical injury. Ulus Travma Acil Cerrahi Derg. (2010) 16:225–8. [PubMed] [Google Scholar]
Hoshino K, Muro Y, Sugiura K, Tomita Y, Nakashima R, Mimori T. Anti-MDA5 and anti-TIF1-gamma antibodies have clinical significance for patients with dermatomyositis. Rheumatology. (2010) 49:1726–33. 10.1093/rheumatology/keq153 [PubMed] [CrossRef] [Google Scholar]
Benveniste O, Guiguet M, Freebody J, Dubourg O, Squier W, Maisonobe T, et al.. Long-term observational study of sporadic inclusion body myositis. Brain. (2011) 134(Pt. 11):3176–84. 10.1093/brain/awr213 [PubMed] [CrossRef] [Google Scholar]
Stone KB, Oddis CV, Fertig N, Katsumata Y, Lucas M, Vogt M, et al.. Anti-Jo-1 antibody levels correlate with disease activity in idiopathic inflammatory myopathy. Arthritis Rheum. (2007) 56:3125–31. 10.1002/art.22865 [PubMed] [CrossRef] [Google Scholar]
Benveniste O, Drouot L, Jouen F, Charuel JL, Bloch-Queyrat C, Behin A, et al.. Correlation of anti-signal recognition particle autoantibody levels with creatine kinase activity in patients with necrotizing myopathy. Arthritis Rheum. (2011) 63:1961–71. 10.1002/art.30344 [PubMed] [CrossRef] [Google Scholar]
Allenbach Y, Drouot L, Rigolet A, Charuel JL, Jouen F, Romero NB, et al.. Anti-HMGCR autoantibodies in European patients with autoimmune necrotizing myopathies: inconstant exposure to statin. Medicine. (2014) 93:150–7. 10.1097/MD.0000000000000028 [PMC free article] [PubMed] [CrossRef] [Google Scholar]
Bandoh S, Fujita J, Ohtsuki Y, Ueda Y, Hojo S, Tokuda M, et al.. Sequential changes of KL-6 in sera of patients with interstitial pneumonia associated with polymyositis/dermatomyositis. Ann Rheum Dis. (2000) 59:257–62. 10.1136/ard.59.4.257 [PMC free article] [PubMed] [CrossRef] [Google Scholar]
Nishioka A, Tsunoda S, Abe T, Yoshikawa T, Takata M, Kitano M, et al. Serum neopterin as well as ferritin, soluble interleukin-2 receptor, KL-6 and anti-MDA5 antibody titer provide markers of the response to therapy in patients with interstitial lung disease complicating anti-MDA5 antibody-positive dermatomyositis. Mod Rheumatol. (2018) 19:1–7. 10.1080/14397595.2018.1548918 [PubMed] [CrossRef] [Google Scholar]
Gono T, Sato S, Kawaguchi Y, Kuwana M, Hanaoka M, Katsumata Y, et al.. Anti-MDA5 antibody, ferritin and IL-18 are useful for the evaluation of response to treatment in interstitial lung disease with anti-MDA5 antibody-positive dermatomyositis. Rheumatology. (2012) 51:1563–70. 10.1093/rheumatology/kes102 [PubMed] [CrossRef] [Google Scholar]
Osawa T, Morimoto K, Sasaki Y, Matsuda S, Yamana K, Yano R, et al.. The serum ferritin level is associated with the treatment responsivity for rapidly progressive interstitial lung disease with amyopathic dermatomyositis, irrespective of the anti-MDA5 antibody level. Intern Med. (2018) 57:387–91. 10.2169/internalmedicine.8335-16 [PMC free article] [PubMed] [CrossRef] [Google Scholar]
Aggarwal R, Lebiedz-Odrobina D, Sinha A, Manadan A, Case JP. Serum cardiac troponin T, but not troponin I, is elevated in idiopathic inflammatory myopathies. J Rheumatol. (2009) 36:2711–4. 10.3899/jrheum.090562 [PubMed] [CrossRef] [Google Scholar]
Kobayashi S, Tanaka M, Tamura N, Hashimoto H, Hirose S. Serum cardiac troponin T in polymyositis/dermatomyositis. Lancet. (1992) 340:726. 10.1016/0140-6736(92)92262-E [PubMed] [CrossRef] [Google Scholar]
Cox FM, Delgado V, Verschuuren JJ, Ballieux BE, Bax JJ, Wintzen AR, et al.. The heart in sporadic inclusion body myositis: a study in 51 patients. J Neurol. (2010) 257:447–51. 10.1007/s00415-009-5350-9 [PMC free article] [PubMed] [CrossRef] [Google Scholar]
Lindberg C, Klintberg L, Oldfors A. Raised troponin T in inclusion body myositis is common and serum levels are persistent over time. Neuromusc Disord. (2006) 16:495–7. 10.1016/j.nmd.2006.06.006 [PubMed] [CrossRef] [Google Scholar]
Greenberg SA, Pinkus JL, Pinkus GS, Burleson T, Sanoudou D, Tawil R, et al.. Interferon-alpha/beta-mediated innate immune mechanisms in dermatomyositis. Ann Neurol. (2005) 57:664–78. 10.1002/ana.20464 [PubMed] [CrossRef] [Google Scholar]
Suarez-Calvet X, Gallardo E, Nogales-Gadea G, Querol L, Navas M, Diaz-Manera J, et al.. Altered RIG-I/DDX58-mediated innate immunity in dermatomyositis. J Pathol. (2014) 233:258–68. 10.1002/path.4346 [PubMed] [CrossRef] [Google Scholar]
Salajegheh M, Kong SW, Pinkus JL, Walsh RJ, Liao A, Nazareno R, et al.. Interferon-stimulated gene 15 (ISG15) conjugates proteins in dermatomyositis muscle with perifascicular atrophy. Ann Neurol. (2010) 67:53–63. 10.1002/ana.21805 [PMC free article] [PubMed] [CrossRef] [Google Scholar]
Suarez-Calvet X, Gallardo E, Pinal-Fernandez I, De Luna N, Lleixa C, Diaz-Manera J, et al.. RIG-I expression in perifascicular myofibers is a reliable biomarker of dermatomyositis. Arthritis Res Ther. (2017) 19:174. 10.1186/s13075-017-1383-0 [PMC free article] [PubMed] [CrossRef] [Google Scholar]
Uruha A, Nishikawa A, Tsuburaya RS, Hamanaka K, Kuwana M, Watanabe Y, et al.. Sarcoplasmic MxA expression: a valuable marker of dermatomyositis. Neurology. (2017) 88:493–500. 10.1212/WNL.0000000000003568 [PubMed] [CrossRef] [Google Scholar]
Liao AP, Salajegheh M, Nazareno R, Kagan JC, Jubin RG, Greenberg SA. Interferon beta is associated with type 1 interferon-inducible gene expression in dermatomyositis. Ann Rheum Dis. (2011) 70:831–6. 10.1136/ard.2010.139949 [PubMed] [CrossRef] [Google Scholar]
Niewold TB, Kariuki SN, Morgan GA, Shrestha S, Pachman LM. Elevated serum interferon-alpha activity in juvenile dermatomyositis: associations with disease activity at diagnosis and after thirty-six months of therapy. Arthritis Rheum. (2009) 60:1815–24. 10.1002/art.24555 [PMC free article] [PubMed] [CrossRef] [Google Scholar]
Guttsches AK, Brady S, Krause K, Maerkens A, Uszkoreit J, Eisenacher M, et al.. Proteomics of rimmed vacuoles define new risk allele in inclusion body myositis. Ann Neurol. (2017) 81:227–39. 10.1002/ana.24847 [PMC free article] [PubMed] [CrossRef] [Google Scholar]
Greenberg SA, Higgs BW, Morehouse C, Walsh RJ, Kong SW, Brohawn P, et al.. Relationship between disease activity and type 1 interferon- and other cytokine-inducible gene expression in blood in dermatomyositis and polymyositis. Genes Immun. (2012) 13:207–13. 10.1038/gene.2011.61 [PubMed] [CrossRef] [Google Scholar]
Trinchieri G. Type I interferon: friend or foe? J Exp Med. (2010) 207:2053–63. 10.1084/jem.20101664 [PMC free article] [PubMed] [CrossRef] [Google Scholar]
Ivashkiv LB, Donlin LT. Regulation of type I interferon responses. Nat Rev Immunol. (2014) 14:36–49. 10.1038/nri3581 [PMC free article] [PubMed] [CrossRef] [Google Scholar]
Ladislau L, Suarez-Calvet X, Toquet S, Landon-Cardinal O, Amelin D, Depp M, et al.. JAK inhibitor improves type I interferon induced damage: proof of concept in dermatomyositis. Brain. (2018) 141:1609–21. 10.1093/brain/awy105 [PubMed] [CrossRef] [Google Scholar]
Rodero MP, Decalf J, Bondet V, Hunt D, Rice GI, Werneke S, et al.. Detection of interferon alpha protein reveals differential levels and cellular sources in disease. J Exp Med. (2017) 214:1547–55. 10.1084/jem.20161451 [PMC free article] [PubMed] [CrossRef] [Google Scholar]
Allenbach Y, Benveniste O. Diagnostic utility of auto-antibodies in inflammatory muscle diseases. J Neuromuscul Dis. (2015) 2:13–25. 10.3233/JND-140054 [PubMed] [CrossRef] [Google Scholar]
Rider LG, Shah M, Mamyrova G, Huber AM, Rice MM, Targoff IN, et al.. The myositis autoantibody phenotypes of the juvenile idiopathic inflammatory myopathies. Medicine. (2013) 92:223–43. 10.1097/MD.0b013e31829d08f9 [PMC free article] [PubMed] [CrossRef] [Google Scholar]
Rothwell S, Cooper RG, Lundberg IE, Miller FW, Gregersen PK, Bowes J, et al.. Dense genotyping of immune-related loci in idiopathic inflammatory myopathies confirms HLA alleles as the strongest genetic risk factor and suggests different genetic background for major clinical subgroups. Ann Rheum Dis. (2016) 75:1558–66. 10.1136/annrheumdis-2015-208119 [PMC free article] [PubMed] [CrossRef] [Google Scholar]
Shimizu H, Nishino I, Ueda T, Kohara N, Nishioka H. Anti-mitochondrial antibody-associated myositis with eosinophilia and dropped head. eNeurologicalSci. (2018) 11:15–6. 10.1016/j.ensci.2018.05.004 [PMC free article] [PubMed] [CrossRef] [Google Scholar]
Allenbach Y, Mammen AL, Stenzel W, Benveniste O. Immune-mediated necrotizing myopathies working G. 224th ENMC International Workshop:: Clinico-sero-pathological classification of immune-mediated necrotizing myopathies Zandvoort, The Netherlands, 14-16 October 2016. Neuromusc Disord. (2017) 28:87–99. 10.1016/j.nmd.2017.09.016 [PubMed] [CrossRef] [Google Scholar]
De Bleecker JL, De Paepe B, Aronica E, de Visser M, Amato A, Benveniste O, et al.. 205th ENMC International Workshop: pathology diagnosis of idiopathic inflammatory myopathies part II 28-30 March 2014, Naarden, The Netherlands. Neuromusc Disord. (2015) 25:268–72. 10.1016/j.nmd.2014.12.001 [PubMed] [CrossRef] [Google Scholar]
Hoogendijk JE, Amato AA, Lecky BR, Choy EH, Lundberg IE, Rose MR, et al.. 119th ENMC international workshop: trial design in adult idiopathic inflammatory myopathies, with the exception of inclusion body myositis, 10-12 October 2003, Naarden, The Netherlands. Neuromusc Disord. (2004) 14:337–45. 10.1016/j.nmd.2004.02.006 [PubMed] [CrossRef] [Google Scholar]
Allenbach Y, Leroux G, Suarez-Calvet X, Preusse C, Gallardo E, Hervier B, et al.. Dermatomyositis with or without anti-melanoma differentiation-associated gene 5 antibodies: common interferon signature but distinct NOS2 expression. Am J Pathol. (2016) 186:691–700. 10.1016/j.ajpath.2015.11.010 [PubMed] [CrossRef] [Google Scholar]
Uruha A, Allenbach Y, Charuel JL, Musset L, Aussy A, Boyer O, et al.. Diagnostic potential of sarcoplasmic MxA expression in subsets of dermatomyositis. Neuropathol Appl Neurobiol. (2018). [Epub ahead of print]. 10.1111/nan.12519 [PubMed] [CrossRef] [Google Scholar]
Aouizerate J, De Antonio M, Bassez G, Gherardi RK, Berenbaum F, Guillevin L, et al.. Myofiber HLA-DR expression is a distinctive biomarker for antisynthetase-associated myopathy. Acta Neuropathol Commun. (2014) 2:154. 10.1186/s40478-014-0154-2 [PMC free article] [PubMed] [CrossRef] [Google Scholar]
Hida A, Yamashita T, Hosono Y, Inoue M, Kaida K, Kadoya M, et al.. Anti-TIF1-gamma antibody and cancer-associated myositis: a clinicohistopathologic study. Neurology. (2016) 87:299–308. 10.1212/WNL.0000000000002863 [PubMed] [CrossRef] [Google Scholar]
Preusse C, Allenbach Y, Hoffmann O, Goebel HH, Pehl D, Radke J, et al.. Differential roles of hypoxia and innate immunity in juvenile and adult dermatomyositis. Acta Neuropathol Commun. (2016) 4:45. 10.1186/s40478-016-0308-5 [PMC free article] [PubMed] [CrossRef] [Google Scholar]
Noguchi E, Uruha A, Suzuki S, Hamanaka K, Ohnuki Y, Tsugawa J, et al.. Skeletal muscle involvement in antisynthetase syndrome. JAMA Neurol. (2017) 74:992–9. 10.1001/jamaneurol.2017.0934 [PMC free article] [PubMed] [CrossRef] [Google Scholar]
de Visser M, Emslie-Smith AM, Engel AG. Early ultrastructural alterations in adult dermatomyositis. Capillary abnormalities precede other structural changes in muscle. J Neurol Sci. (1989) 94:181–92. [PubMed] [Google Scholar]
Lloyd TE, Mammen AL, Amato AA, Weiss MD, Needham M, Greenberg SA. Evaluation and construction of diagnostic criteria for inclusion body myositis. Neurology. (2014) 83:426–33. 10.1212/WNL.0000000000000642 [PMC free article] [PubMed] [CrossRef] [Google Scholar]
Brady S, Squier W, Sewry C, Hanna M, Hilton-Jones D, Holton JL. A retrospective cohort study identifying the principal pathological features useful in the diagnosis of inclusion body myositis. BMJ Open. (2014) 4:e004552. 10.1136/bmjopen-2013-004552 [PMC free article] [PubMed] [CrossRef] [Google Scholar]
Nogalska A, Terracciano C, D'Agostino C, King Engel W, Askanas V. p62/SQSTM1 is overexpressed and prominently accumulated in inclusions of sporadic inclusion-body myositis muscle fibers, and can help differentiating it from polymyositis and dermatomyositis. Acta Neuropathol. (2009) 118:407–13. 10.1007/s00401-009-0564-6 [PubMed] [CrossRef] [Google Scholar]
Nogalska A, D'Agostino C, Engel WK, Klein WL, Askanas V. Novel demonstration of amyloid-beta oligomers in sporadic inclusion-body myositis muscle fibers. Acta Neuropathol. (2010) 120:661–6. 10.1007/s00401-010-0737-3 [PubMed] [CrossRef] [Google Scholar]
Weihl CC, Mammen AL. Sporadic inclusion body myositis - a myodegenerative disease or an inflammatory myopathy. Neuropathol Appl Neurobiol. (2017) 43:82–91. 10.1111/nan.12384 [PubMed] [CrossRef] [Google Scholar]
Lopez De Padilla CM, Vallejo AN, Lacomis D, McNallan K, Reed AM. Extranodal lymphoid microstructures in inflamed muscle and disease severity of new-onset juvenile dermatomyositis. Arthritis Rheum. (2009) 60:1160–72. 10.1002/art.24411 [PubMed] [CrossRef] [Google Scholar]
Pestronk A, Kos K, Lopate G, Al-Lozi MT. Brachio-cervical inflammatory myopathies: clinical, immune, and myopathologic features. Arthritis Rheum. (2006) 54:1687–96. 10.1002/art.21822 [PubMed] [CrossRef] [Google Scholar]

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

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.

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.

REFERENCES

1.↵Mammen AL. Dermatomyositis and polymyositis: clinical presentation, autoantibodies, and pathogenesis. Ann NY Acad Sci 2010;1184:134–153.CrossRefPubMedGoogle Scholar
2.↵Rider LG, Miller FW. Deciphering the clinical presentations, pathogenesis, and treatment of the idiopathic inflammatory myopathies. JAMA 2011;305:183–190.CrossRefPubMedGoogle Scholar
3.↵Hoogendijk JE, Amato AA, Lecky BR, et al. 119th ENMC international workshop: trial design in adult idiopathic inflammatory myopathies, with the exception of inclusion body myositis, 10–12 October 2003, Naarden, the Netherlands. Neuromuscul Disord 2004;14:337–345.CrossRefPubMedGoogle Scholar
4.↵Hengstman GJ, van Brenk L, Vree Egberts WT, et al. High specificity of myositis specific autoantibodies for myositis compared with other neuromuscular disorders. J Neurol 2005;252:534–537.CrossRefPubMedGoogle Scholar
5.↵Casciola-Rosen L, Mammen AL. Myositis autoantibodies. Curr Opin Rheumatol 2012;24:602–608.CrossRefPubMedGoogle Scholar
6.↵Mammen AL, Chung T, Christopher-Stine L, et al. Autoantibodies against 3-hydroxy-3-methylglutaryl-coenzyme A reductase in patients with statin-associated autoimmune myopathy. Arthritis Rheum 2011;63:713–721.CrossRefPubMedGoogle Scholar
7.↵Pinal-Fernandez I, Casciola-Rosen L, Christopher-Stine L, Corse A, Mammen A. The prevalence of individual histopathologic features varies according to autoantibody status in muscle biopsies from dermatomyositis patients. J Rheumatol 2015;42:1448–1454.Abstract/FREE Full TextGoogle Scholar
8.↵Fiorentino DF, Chung LS, Christopher-Stine L, et al. Most patients with cancer-associated dermatomyositis have antibodies to nuclear matrix protein NXP-2 or transcription intermediary factor 1gamma. Arthritis Rheum 2013;65:2954–2962.CrossRefPubMedGoogle Scholar
9.↵Christopher-Stine L, Casciola-Rosen LA, Hong G, Chung T, Corse AM, Mammen AL. A novel autoantibody recognizing 200-kd and 100-kd proteins is associated with an immune-mediated necrotizing myopathy. Arthritis Rheum 2010;62:2757–2766.CrossRefPubMedGoogle Scholar
10.↵Amato AA, Griggs RC. Unicorns, dragons, polymyositis, and other mythological beasts. Neurology 2003;61:288–289.Google Scholar
11.↵van der Meulen MF, Bronner IM, Hoogendijk JE, et al. Polymyositis: an overdiagnosed entity. Neurology 2003;61:316–321.CrossRefGoogle Scholar
12.↵Claeys KG, Gorodinskaya O, Handt S, et al. Diagnostic challenge and therapeutic dilemma in necrotizing myopathy. Neurology 2013;81:932–935.CrossRefGoogle Scholar
13.↵Casciola-Rosen L, Nagaraju K, Plotz P, et al. Enhanced autoantigen expression in regenerating muscle cells in idiopathic inflammatory myopathy. J Exp Med 2005;201:591–601.Abstract/FREE Full TextGoogle Scholar
14.↵Mammen AL, Casciola-Rosen LA, Hall JC, Christopher-Stine L, Corse AM, Rosen A. Expression of the dermatomyositis autoantigen mi-2 in regenerating muscle. Arthritis Rheum 2009;60:3784–3793.CrossRefPubMedGoogle Scholar
15.↵Mohassel P, Rosen P, Casciola-Rosen L, Pak K, Mammen AL. Expression of the dermatomyositis autoantigen transcription intermediary factor 1 gamma in regenerating muscle. Arthritis Rheumatol 2015;67:266–272.Google Scholar

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.

References

Lilleker JB, Vencovsky J, Wang G, et al.: The EuroMyositis registry: an international collaborative tool to facilitate myositis research. Ann Rheum Dis. 2018;77(1):30–9. 10.1136/annrheumdis-2017-211868 [PMC free article] [PubMed] [CrossRef] [Google Scholar]
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(6):e172. 10.1212/NXI.0000000000000172 [PMC free article] [PubMed] [CrossRef] [Google Scholar]
Tansley SL, McHugh NJ, Wedderburn LR: Adult and juvenile dermatomyositis: are the distinct clinical features explained by our current understanding of serological subgroups and pathogenic mechanisms? Arthritis Res Ther. 2013;15(2): 211. 10.1186/ar4198 [PMC free article] [PubMed] [CrossRef] [Google Scholar]
Lundberg IE, de Visser M, Werth VP: Classification of myositis. Nat Rev Rheumatol. 2018;14(5):269–78. 10.1038/nrrheum.2018.41 [PubMed] [CrossRef] [Google Scholar] F1000 Recommendation
Fujimoto M, Watanabe R, Ishitsuka Y, et al.: Recent advances in dermatomyositis-specific autoantibodies. Curr Opin Rheumatol. 2016;28(6):636–44. 10.1097/BOR.0000000000000329 [PubMed] [CrossRef] [Google Scholar]
Sato S, Hirakata M, Kuwana M, et al.: Autoantibodies to a 140-kd polypeptide, CADM-140, in Japanese patients with clinically amyopathic dermatomyositis. Arthritis Rheum. 2005;52(5):1571–6. 10.1002/art.21023 [PubMed] [CrossRef] [Google Scholar]
Chen Z, Hu W, Wang Y, et al.: Distinct profiles of myositis-specific autoantibodies in Chinese and Japanese patients with polymyositis/dermatomyositis. Clin Rheumatol. 2015;34(9):1627–31. 10.1007/s10067-015-2935-9 [PubMed] [CrossRef] [Google Scholar] F1000 Recommendation
Borges IBP, Silva MG, Shinjo SK: Prevalence and reactivity of anti-melanoma differentiation-associated gene 5 (anti-MDA-5) autoantibody in Brazilian patients with dermatomyositis. An Bras Dermatol. 2018;93(4):517–23. 10.1590/abd1806-4841.20186803 [PMC free article] [PubMed] [CrossRef] [Google Scholar] F1000 Recommendation
Betteridge Z, Tansley S, Shaddick G, et al.: Frequency, mutual exclusivity and clinical associations of myositis autoantibodies in a combined European cohort of idiopathic inflammatory myopathy patients. J Autoimmun. 2019;101:48–55. 10.1016/j.jaut.2019.04.001 [PMC free article] [PubMed] [CrossRef] [Google Scholar] F1000 Recommendation
Hall JC, Casciola-Rosen L, Samedy LA: Anti-melanoma differentiation-associated protein 5-associated dermatomyositis: expanding the clinical spectrum. Arthritis Care Res (Hoboken). 2013;65(8):1307–15. 10.1002/acr.21992 [PMC free article] [PubMed] [CrossRef] [Google Scholar]
Chen Z, Cao M, Plana MN, et al.: Utility of anti-melanoma differentiation-associated gene 5 antibody measurement in identifying patients with dermatomyositis and a high risk for developing rapidly progressive interstitial lung disease: a review of the literature and a meta-analysis. Arthritis Care Res (Hoboken). 2013;65(8):1316–24. 10.1002/acr.21985 [PubMed] [CrossRef] [Google Scholar]
Gono T, Kawaguchi Y, Satoh T, et al.: Clinical manifestation and prognostic factor in anti-melanoma differentiation-associated gene 5 antibody-associated interstitial lung disease as a complication of dermatomyositis. Rheumatology (Oxford). 2010;49(9):1713–9. 10.1093/rheumatology/keq149 [PubMed] [CrossRef] [Google Scholar]
Kobayashi N, Takezaki S, Kobayashi I, et al.: Clinical and laboratory features of fatal rapidly progressive interstitial lung disease associated with juvenile dermatomyositis. Rheumatology (Oxford). 2015;54(5):784–91. 10.1093/rheumatology/keu385 [PubMed] [CrossRef] [Google Scholar]
Tansley SL, Betteridge ZE, Gunawardena H, et al.: Anti-MDA5 autoantibodies in juvenile dermatomyositis identify a distinct clinical phenotype: a prospective cohort study. Arthritis Res Ther. 2014;16(4): R138. 10.1186/ar4600 [PMC free article] [PubMed] [CrossRef] [Google Scholar]
Yasin SA, Schutz PW, Deakin CT, et al.: Histological heterogeneity in a large clinical cohort of juvenile idiopathic inflammatory myopathy: analysis by myositis autoantibody and pathological features. Neuropathol Appl Neurobiol. 2019;45(5):495–512. 10.1111/nan.12528 [PMC free article] [PubMed] [CrossRef] [Google Scholar] F1000 Recommendation
Kaji K, Fujimoto M, Hasegawa M, et al.: Identification of a novel autoantibody reactive with 155 and 140 kDa nuclear proteins in patients with dermatomyositis: an association with malignancy. Rheumatology (Oxford). 2007;46(1):25–8. 10.1093/rheumatology/kel161 [PubMed] [CrossRef] [Google Scholar]
Targoff IN, Mamyrova G, Trieu EP, et al.: A novel autoantibody to a 155-kd protein is associated with dermatomyositis. Arthritis Rheum. 2006;54(11):3682–9. 10.1002/art.22164 [PubMed] [CrossRef] [Google Scholar] F1000 Recommendation
Fujimoto M, Hamaguchi Y, Kaji K, et al.: Myositis-specific anti-155/140 autoantibodies target transcription intermediary factor 1 family proteins. Arthritis Rheum. 2012;64(2):513–22. 10.1002/art.33403 [PubMed] [CrossRef] [Google Scholar] F1000 Recommendation
Fiorentino DF, Chung LS, Christopher-Stine L, et al.: Most patients with cancer-associated dermatomyositis have antibodies to nuclear matrix protein NXP-2 or transcription intermediary factor 1γ. Arthritis Rheum. 2013;65(11):2954–62. 10.1002/art.38093 [PMC free article] [PubMed] [CrossRef] [Google Scholar]
Venalis P, Selickaja S, Lundberg K, et al.: Association of Anti-Transcription Intermediary Factor 1γ Antibodies With Paraneoplastic Rheumatic Syndromes Other Than Dermatomyositis. Arthritis Care Res (Hoboken). 2018;70(4):648–51. 10.1002/acr.23325 [PubMed] [CrossRef] [Google Scholar] F1000 Recommendation
Mugii N, Hasegawa M, Matsushita T, et al.: Oropharyngeal Dysphagia in Dermatomyositis: Associations with Clinical and Laboratory Features Including Autoantibodies. PLoS One. 2016;11(5):e0154746. 10.1371/journal.pone.0154746 [PMC free article] [PubMed] [CrossRef] [Google Scholar]
Fiorentino DF, Kuo K, Chung L, et al.: Distinctive cutaneous and systemic features associated with antitranscriptional intermediary factor-1γ antibodies in adults with dermatomyositis. J Am Acad Dermatol. 2015;72(3):449–55. 10.1016/j.jaad.2014.12.009 [PMC free article] [PubMed] [CrossRef] [Google Scholar] F1000 Recommendation
Hamaguchi Y, Kuwana M, Hoshino K, et al.: Clinical correlations with dermatomyositis-specific autoantibodies in adult Japanese patients with dermatomyositis: A multicenter cross-sectional study. Arch Dermatol. 2011;147(4):391–8. 10.1001/archdermatol.2011.52 [PubMed] [CrossRef] [Google Scholar]
Best M, Molinari N, Chasset F, et al.: Use of Anti-transcriptional Intermediary Factor-1 Gamma Autoantibody in Identifying Adult Dermatomyositis Patients with Cancer: A Systematic Review and Meta-analysis. Acta Derm Venereol. 2019;99(3):256–262. 10.2340/00015555-3091 [PubMed] [CrossRef] [Google Scholar] F1000 Recommendation
Rider LG, Nistala K: The juvenile idiopathic inflammatory myopathies: Pathogenesis, clinical and autoantibody phenotypes, and outcomes. J Intern Med. 2016;280(1):24–38. 10.1111/joim.12444 [PMC free article] [PubMed] [CrossRef] [Google Scholar] F1000 Recommendation
Lega JC, Fabien N, Reynaud Q, et al.: The clinical phenotype associated with myositis-specific and associated autoantibodies: A meta-analysis revisiting the so-called antisynthetase syndrome. Autoimmun Rev. 2014;13(9):883–91. 10.1016/j.autrev.2014.03.004 [PubMed] [CrossRef] [Google Scholar]
Zhang Y, LeRoy G, Seelig HP, et al.: The dermatomyositis-specific autoantigen mi2 is a component of a complex containing histone deacetylase and nucleosome remodeling activities. Cell. 1998;95(2):279–89. 10.1016/s0092-8674(00)81758-4 [PubMed] [CrossRef] [Google Scholar]
Espada G, Maldonado Cocco JA, Fertig N, et al.: Clinical and serologic characterization of an Argentine pediatric myositis cohort: Identification of a novel autoantibody (anti-MJ) to a 142-kDa protein. J Rheumatol. 2009;36(11):2547–51. 10.3899/jrheum.090461 [PubMed] [CrossRef] [Google Scholar]
Ichimura Y, Matsushita T, Hamaguchi Y, et al.: Anti-NXP2 autoantibodies in adult patients with idiopathic inflammatory myopathies: Possible association with malignancy. Ann Rheum Dis. 2012;71(5):710–3. 10.1136/annrheumdis-2011-200697 [PubMed] [CrossRef] [Google Scholar]
Betteridge Z, Gunawardena H, North J, et al.: Identification of a novel autoantibody directed against small ubiquitin-like modifier activating enzyme in dermatomyositis. Arthritis Rheum. 2007;56(9):3132–7. 10.1002/art.22862 [PubMed] [CrossRef] [Google Scholar]
Inoue S, Okiyama N, Shobo M, et al.: Diffuse erythema with 'angel wings' sign in Japanese patients with anti-small ubiquitin-like modifier activating enzyme antibody-associated dermatomyositis. Br J Dermatol. 2018;179(6):1414–1415. 10.1111/bjd.17026 [PubMed] [CrossRef] [Google Scholar]
Fiorentino D, Chung L, Zwerner J, et al.: The mucocutaneous and systemic phenotype of dermatomyositis patients with antibodies to MDA5 (CADM-140): A retrospective study. J Am Acad Dermatol. 2011;65(1):25–34. 10.1016/j.jaad.2010.09.016 [PMC free article] [PubMed] [CrossRef] [Google Scholar]
Narang NS, Casciola-Rosen L, Li S, et al.: Cutaneous ulceration in dermatomyositis: Association with anti-melanoma differentiation-associated gene 5 antibodies and interstitial lung disease. Arthritis Care Res (Hoboken). 2015;67(5):667–72. 10.1002/acr.22498 [PMC free article] [PubMed] [CrossRef] [Google Scholar]
Koguchi-Yoshioka H, Okiyama N, Iwamoto K, et al.: Intravenous immunoglobulin contributes to the control of antimelanoma differentiation-associated protein 5 antibody-associated dermatomyositis with palmar violaceous macules/papules. Br J Dermatol. 2017;177(5):1442–1446. 10.1111/bjd.15499 [PubMed] [CrossRef] [Google Scholar]
Concha JSS, Merola JF, Fiorentino D, et al.: Re-examining mechanic's hands as a characteristic skin finding in dermatomyositis. J Am Acad Dermatol. 2018;78(4):769–775.e2. 10.1016/j.jaad.2017.10.034 [PubMed] [CrossRef] [Google Scholar] F1000 Recommendation
Zhong L, Yu Z, Song H: Association of anti-nuclear matrix protein 2 antibody with complications in patients with idiopathic inflammatory myopathies: A meta-analysis of 20 cohorts. Clin Immunol. 2019;198:11–8. 10.1016/j.clim.2018.11.008 [PubMed] [CrossRef] [Google Scholar] F1000 Recommendation
Okiyama N, Yamaguchi Y, Kodera M, et al.: Distinct Histopathologic Patterns of Finger Eruptions in Dermatomyositis Based on Myositis-Specific Autoantibody Profiles. JAMA Dermatol. 2019. 10.1001/jamadermatol.2019.1668 [PMC free article] [PubMed] [CrossRef] [Google Scholar]
Noguchi E, Uruha A, Suzuki S, et al.: Skeletal Muscle Involvement in Antisynthetase Syndrome. JAMA Neurol. 2017;74(8):992–999. 10.1001/jamaneurol.2017.0934 [PMC free article] [PubMed] [CrossRef] [Google Scholar] F1000 Recommendation
Uruha A, Nishikawa A, Tsuburaya RS, et al.: Sarcoplasmic MxA expression: A valuable marker of dermatomyositis. Neurology. 2017;88(5):493–500. 10.1212/WNL.0000000000003568 [PubMed] [CrossRef] [Google Scholar] F1000 Recommendation
Zhang SH, Zhao Y, Xie QB, et al.: Aberrant activation of the type I interferon system may contribute to the pathogenesis of anti-melanoma differentiation-associated gene 5 dermatomyositis. Br J Dermatol. 2019;180(5):1090–1098. 10.1111/bjd.16917 [PubMed] [CrossRef] [Google Scholar] F1000 Recommendation

8 Targoff IN, Mamyrova G, Trieu EP, et al. A novel autoantibody to a 155-kd protein is associated with dermatomyositis. Arthritis Rheum 2006;54:3682–9.
9 Kaji K, Fujimoto M, Hasegawa M, et al. Identification of a novel autoantibody
reactive with 155 and 140 kDa nuclear proteins in patients with dermatomyositis: an
association with malignancy. Rheumatology 2007;46:25–8.
10 Betteridge Z, Tansley S, Shaddick G, et al. Frequency, mutual exclusivity and clinical
associations of myositis autoantibodies in a combined European cohort of idiopathic
inflammatory myopathy patients. J Autoimmun 2019;101:48–55.
11 Hamaguchi Y, Kuwana M, Hoshino K, et al. Clinical correlations with dermatomyositis-specific
autoantibodies in adult Japanese patients with dermatomyositis: a multicenter
cross-sectional
study. Arch Dermatol 2011;147:391–8.
12 Fujimoto M, Hamaguchi Y, Kaji K, et al. Myositis-Specific
anti-155/140 autoantibodies
target transcription intermediary factor 1 family proteins. Arthritis Rheum
2012;64:513–22.
13 Fiorentino DF, Chung LS, Christopher-Stine
L, et al. Most patients with cancer-associated
dermatomyositis have antibodies to nuclear matrix protein NXP-2 or
transcription intermediary factor 1γ. Arthritis Rheum 2013;65:2954–62.
14 Venalis P, Selickaja S, Lundberg K, et al. Association of Anti-Transcription
intermediary
factor 1γ antibodies with paraneoplastic rheumatic syndromes other than
dermatomyositis. Arthritis Care Res 2018;70:648–51.
15 Kasuya A, Hamaguchi Y, Fujimoto M, et al. TIF1γ-overexpressing, highly progressive
endometrial carcinoma in a patient with dermato-myositis
positive for malignancy-associated
anti-p155/
140 autoantibody. Acta Derm Venereol 2013;93:715–6.
16 Pinal-Fernandez
I, Ferrer-Fabregas
B, Trallero-Araguas
E, et al. Tumour TIF1 mutations
and loss of heterozygosity related to cancer-associated
myositis. Rheumatology
2018;57:388–96.
17 Mohassel P, Rosen P, Casciola-Rosen
L, et al. Expression of the dermatomyositis
autoantigen transcription intermediary factor 1γ in regenerating muscle. Arthritis
Rheumatol 2015;67:266–72.
18 Oya K, Inoue S, Saito A. Pregnancy triggers the onset of anti-transcriptional
intermediary factor 1gamma antibody-positive
dermatomyositis: a case series.
Rheumatology 2019.
19 Yan K-P,
Dollé P, Mark M, et al. Molecular cloning, genomic structure, and expression
analysis of the mouse transcriptional intermediary factor 1 gamma gene. Gene
2004;334:3–13.
20 Hesling C, Lopez J, Fattet L, et al. Tif1γ is essential for the terminal differentiation
of mammary alveolar epithelial cells and for lactation through Smad4 inhibition.
Development 2013;140:167–75.
21 Müller U, Steinhoff U, Reis LF, et al. Functional role of type I and type II interferons in
antiviral defense. Science 1994;264:1918–21.
22 Sugihara T, Sekine C, Nakae T, et al. A new murine model to define the
critical pathologic and therapeutic mediators of polymyositis. Arthritis Rheum
2007;56:1304–14.
23 Okiyama N, Sugihara T, Oida T, et al. T lymphocytes and muscle condition act like
seeds and soil in a murine polymyositis model. Arthritis Rheum 2012;64:3741–9.
24 Okiyama N, Furumoto Y, Villarroel VA, et al. Reversal of CD8 T-cell-
mediated
mucocutaneous graft-versus-
host-
like
disease by the JAK inhibitor tofacitinib. J Invest
Dermatol 2014;134:992–1000.
25 Nagaraju K, Plotz PH. Animal models of myositis. Rheum Dis Clin North Am
2002;28:917–33.
26 Ascherman DP. Animal models of inflammatory myopathy. Curr Rheumatol Rep
2012;14:257–63.
27 Rosenberg NL, Ringel SP, Kotzin BL. Experimental autoimmune myositis in SJL/J mice.
Clin Exp Immunol 1987;68:117–29.
28 Matsubara S, Shima T, Takamori M. Experimental allergic myositis in SJL/J mice
immunized with rabbit myosin B fraction: immunohistochemical analysis and transfer.
Acta Neuropathol 1993;85:138–44.
29 Okiyama N, Sugihara T, Iwakura Y, et al. Therapeutic effects of interleukin-6 blockade
in a murine model of polymyositis that does not require interleukin-17A.
Arthritis
Rheum 2009;60:2505–12.
30 Katsumata Y, Ridgway WM, Oriss T, et al. Species-Specific
immune responses
generated by histidyl-tRNA
synthetase immunization are associated with muscle and
lung inflammation. J Autoimmun 2007;29:174–86.
31 Sgroi D, Cohen RN, Lingenheld EG, et al. T cell lines derived from the spinal cords
of mice with experimental allergic encephalomyelitis are self reactive. J Immunol
1986;137:1850–4.
32 Nagaraju K, Raben N, Villalba ML, et al. Costimulatory markers in muscle of patients
with idiopathic inflammatory myopathies and in cultured muscle cells. Clin Immunol
1999;92:161–9.
33 Bartoccioni E, Gallucci S, Scuderi F, et al. Mhc class I, MHC class II and intercellular
adhesion molecule-1 (ICAM-1) expression in inflammatory myopathies. Clin Exp
Immunol 1994;95:166–72.
34 Nagaraju K, Casciola-Rosen
L, Lundberg I, et al. Activation of the endoplasmic
reticulum stress response in autoimmune myositis: potential role in muscle fiber
damage and dysfunction. Arthritis Rheum 2005;52:1824–35.
35 Arahata K, Engel AG. Monoclonal antibody analysis of mononuclear cells in
myopathies. V: identification and quantitation of T8+ cytotoxic and T8+ suppressor
cells. Ann Neurol 1988;23:493–9.
36 Dalakas MC, Hohlfeld R. Polymyositis and dermatomyositis. Lancet 2003;362:971–82.
37 Nagaraju K, Raben N, Loeffler L, et al. Conditional up-regulation
of MHC class I in
skeletal muscle leads to self-sustaining
autoimmune myositis and myositis-specific
autoantibodies. Proc Natl Acad Sci U S A 2000;97:9209–14.
38 Shimizu K, Kobayashi T, Kano M, et al. Anti-transcriptional
intermediary factor
1-γ antibody as a biomarker in patients with dermatomyositis. J Dermatol
2020;47:64–8.
39 Ceribelli A, Isailovic N, De Santis M, et al. Myositis-Specific
autoantibodies and their
association with malignancy in Italian patients with polymyositis and dermatomyositis.
Clin Rheumatol 2017;36:469–75.
40 Ikeda N, Yamaguchi Y, Kanaoka M, et al. Clinical significance of serum levels of anti-transcriptional
intermediary factor 1-γ antibody in patients with dermatomyositis. J
Dermatol 2020;47:490–6.
41 Bergua C, Chiavelli H, Allenbach Y, et al. In vivo pathogenicity of IgG from patients
with anti-SRP
or anti-HMGCR
autoantibodies in immune-mediated
necrotising
myopathy. Ann Rheum Dis 2019;78:131–9.
42 Uruha A, Nishikawa A, Tsuburaya RS, et al. Sarcoplasmic MxA expression: a valuable
marker of dermatomyositis. Neurology 2017;88:493–500.
43 Okiyama N, Yamaguchi Y, Kodera M, et al. Distinct histopathologic patterns of finger
eruptions in dermatomyositis based on myositis-specific
autoantibody profiles. JAMA
Dermatol 2019. doi:10.1001/jamadermatol.2019.1668. [Epub ahead of print: 10 Jul
2019].
44 Hornung T, Janzen V, Heidgen F-J,
et al. Remission of recalcitrant dermatomyositis
treated with ruxolitinib. N Engl J Med 2014;371:2537–8.
45 Ladislau L, Suárez-Calvet
X, Toquet S, et al. Jak inhibitor improves type I interferon
induced damage: proof of concept in dermatomyositis. Brain 2018;141:1609–21.
46 Aeschlimann FA, Frémond M-L,
Duffy D, et al. A child with severe juvenile
dermatomyositis treated with ruxolitinib. Brain 2018;141:e80.
47 Paik JJ, Christopher-Stine
L. A case of refractory dermatomyositis responsive to
tofacitinib. Semin Arthritis Rheum 2017;46:e19.