Recent Updates on the Pathogenesis of Inflammatory Myopathies.

Antisynthetase Syndrome Autoantibodies Dermatomyositis Immune-mediated Necrotizing Myositis Inclusion body Myositis Myositis Pathogenesis

Journal

Current rheumatology reports
ISSN: 1534-6307
Titre abrégé: Curr Rheumatol Rep
Pays: United States
ID NLM: 100888970

Informations de publication

Date de publication:
24 Sep 2024
Historique:
accepted: 04 09 2024
medline: 24 9 2024
pubmed: 24 9 2024
entrez: 24 9 2024
Statut: aheadofprint

Résumé

This review aims to provide a comprehensive and updated overview of autoimmune myopathies, with a special focus on the latest advancements in understanding the role of autoantibodies. We will begin by examining the risk factors and triggers associated with myositis. Next, we will delve into recent research on how autoantibodies contribute to disease pathogenesis. Finally, we will explore the latest innovations in treatment strategies and their implications for our understanding of myositis pathogenesis. Recent research has revealed that myositis-specific autoantibodies can infiltrate muscle cells and disrupt the function of their target autoantigens, playing a crucial role in disease pathogenesis. Significant advances in treatment include CD19 CAR-T cell therapy, JAK-STAT inhibitors, and novel strategies targeting the type 1 interferon pathway in dermatomyositis. Additionally, the ineffectiveness of complement inhibitors in treating immune-mediated necrotizing myositis has challenged established views on disease mechanisms. Autoimmune myopathies are a collection of disorders significantly influenced by specific autoantibodies that drive disease pathogenesis. This review highlights the critical role of autoantibody research in deepening our understanding of these conditions and discusses recent therapeutic advancements targeting key pathogenic pathways.

Identifiants

pubmed: 39316320
doi: 10.1007/s11926-024-01164-7
pii: 10.1007/s11926-024-01164-7
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Informations de copyright

© 2024. This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply.

Références

Casal-Dominguez M, Pinal-Fernandez I, Pak K, Huang W, Selva-O’Callaghan A, Albayda J, et al. Performance of the 2017 European Alliance of Associations for Rheumatology/American College of Rheumatology Classification Criteria for idiopathic inflammatory myopathies in patients with myositis-specific autoantibodies. Arthritis Rheumatol. 2022;74(3):508–17.
pubmed: 34480833 pmcid: 8881307 doi: 10.1002/art.41964
Selva-O’Callaghan A, Pinal-Fernandez I, Trallero-Araguas E, Milisenda JC, Grau-Junyent JM, Mammen AL. Classification and management of adult inflammatory myopathies. Lancet Neurol. 2018;17(9):816–28.
pubmed: 30129477 doi: 10.1016/S1474-4422(18)30254-0
Targoff IN, Reichlin M. The association between Mi-2 antibodies and dermatomyositis. Arthritis Rheum. 1985;28(7):796–803.
pubmed: 2409985 doi: 10.1002/art.1780280711
Trallero-Araguas E, Rodrigo-Pendas JA, Selva-O’Callaghan A, Martinez-Gomez X, Bosch X, Labrador-Horrillo M, et al. Usefulness of anti-p155 autoantibody for diagnosing cancer-associated dermatomyositis: a systematic review and meta-analysis. Arthritis Rheum. 2012;64(2):523–32.
pubmed: 21953614 doi: 10.1002/art.33379
Albayda J, Pinal-Fernandez I, Huang W, Parks C, Paik J, Casciola-Rosen L, et al. Antinuclear matrix protein 2 autoantibodies and Edema, muscle disease, and Malignancy Risk in Dermatomyositis patients. Arthritis Care Res (Hoboken). 2017;69(11):1771–6.
pubmed: 28085235 doi: 10.1002/acr.23188
Sato S, Hirakata M, Kuwana M, Suwa A, Inada S, Mimori T, et al. Autoantibodies to a 140-kd polypeptide, CADM-140, in Japanese patients with clinically amyopathic dermatomyositis. Arthritis Rheum. 2005;52(5):1571–6.
pubmed: 15880816 doi: 10.1002/art.21023
Tarricone E, Ghirardello A, Rampudda M, Bassi N, Punzi L, Doria A. Anti-SAE antibodies in autoimmune myositis: identification by unlabelled protein immunoprecipitation in an Italian patient cohort. J Immunol Methods. 2012;384(1–2):128–34.
pubmed: 22884621 doi: 10.1016/j.jim.2012.07.019
Nishikai M, Reichlin M. Heterogeneity of precipitating antibodies in polymyositis and dermatomyositis. Characterization of the Jo-1 antibody system. Arthritis Rheum. 1980;23(8):881–8.
pubmed: 7406938 doi: 10.1002/art.1780230802
Targoff IN, Arnett FC, Reichlin M. Antibody to threonyl-transfer RNA synthetase in myositis sera. Arthritis Rheum. 1988;31(4):515–24.
pubmed: 3128989 doi: 10.1002/art.1780310408
Bunn CC, Bernstein RM, Mathews MB. Autoantibodies against alanyl-tRNA synthetase and tRNAAla coexist and are associated with myositis. J Exp Med. 1986;163(5):1281–91.
pubmed: 3701255 doi: 10.1084/jem.163.5.1281
Pinal-Fernandez I, Casal-Dominguez M, Huapaya JA, Albayda J, Paik JJ, Johnson C, 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(6):999–1007.
pubmed: 28339994 doi: 10.1093/rheumatology/kex021
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(1):209–15.
pubmed: 14730618 doi: 10.1002/art.11484
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(9):2757–66.
pubmed: 20496415 pmcid: 3026777 doi: 10.1002/art.27572
Oddis CV, Okano Y, Rudert WA, Trucco M, Duquesnoy RJ, Medsger TA. Jr. Serum autoantibody to the nucleolar antigen PM-Scl. Clinical and immunogenetic associations. Arthritis Rheum. 1992;35(10):1211–7.
pubmed: 1418007 doi: 10.1002/art.1780351014
Guerra NL, Matas-Garcia A, Serra-Garcia L, Morgado-Carrasco D, Padrosa J, Aldecoa I, et al. Dermatomyositis unleashed by immune checkpoint inhibitors. Three additional cases and a review of the literature. Autoimmun Rev. 2023;22(8):103375.
pubmed: 37321468 pmcid: 10529928 doi: 10.1016/j.autrev.2023.103375
Pinal-Fernandez I, Quintana A, Milisenda JC, Casal-Dominguez M, Munoz-Braceras S, Derfoul A et al. Transcriptomic profiling reveals distinct subsets of immune checkpoint inhibitor induced myositis. Ann Rheum Dis. 2023 Feb 17.
Saw JL, Sidiqi MH, Mauermann ML, Alkhateeb H, Naddaf E. Immune-mediated neuromuscular complications of graft-versus-host disease. Muscle Nerve. 2021;63(6):852–60.
pubmed: 33651380 doi: 10.1002/mus.27214
Khoo T, Lilleker JB, Thong BY, Leclair V, Lamb JA, Chinoy H. Epidemiology of the idiopathic inflammatory myopathies. Nat Rev Rheumatol. 2023;19(11):695–712.
pubmed: 37803078 doi: 10.1038/s41584-023-01033-0
Pinal-Fernandez I, Mammen AL. Dermatomyositis etiopathogenesis: a rebel soldier in the muscle. Curr Opin Rheumatol. 2018;30(6):623–9.
pubmed: 30148802 doi: 10.1097/BOR.0000000000000540
Nishina N, Sato S, Masui K, Gono T, Kuwana M. Seasonal and residential clustering at disease onset of anti-MDA5-associated interstitial lung disease. RMD Open 2020; 6(2).
Toquet S, Granger B, Uzunhan Y, Mariampillai K, Nunes H, Benveniste O, et al. The seasonality of Dermatomyositis associated with anti-MDA5 antibody: an argument for a respiratory viral trigger. Autoimmun Rev. 2021;20(4):102788.
pubmed: 33609802 doi: 10.1016/j.autrev.2021.102788
Wei J, Ketner E, Mammen AL. Increased risk of statin-associated autoimmune myopathy among American indians. Arthritis Rheumatol. 2022;74(9):1602–3.
pubmed: 35333459 pmcid: 9531600 doi: 10.1002/art.42126
Love LA, Weinberg CR, McConnaughey DR, Oddis CV, Medsger TA Jr., Reveille JD, et al. Ultraviolet radiation intensity predicts the relative distribution of dermatomyositis and anti-mi-2 autoantibodies in women. Arthritis Rheum. 2009;60(8):2499–504.
pubmed: 19644877 pmcid: 2855681 doi: 10.1002/art.24702
Orione MA, Silva CA, Sallum AM, Campos LM, Omori CH, Braga AL, et al. Risk factors for juvenile dermatomyositis: exposure to tobacco and air pollutants during pregnancy. Arthritis Care Res (Hoboken). 2014;66(10):1571–5.
pubmed: 24757124 doi: 10.1002/acr.22358
Miller-Archie SA, Izmirly PM, Berman JR, Brite J, Walker DJ, Dasilva RC, et al. Systemic autoimmune disease among adults exposed to the September 11, 2001 Terrorist Attack. Arthritis Rheumatol. 2020;72(5):849–59.
pubmed: 31762219 pmcid: 7216890 doi: 10.1002/art.41175
Labirua-Iturburu A, Selva-O’Callaghan A, Zock JP, Orriols R, Martinez-Gomez X, Vilardell-Tarres M. Occupational exposure in patients with the antisynthetase syndrome. Clin Rheumatol. 2014;33(2):221–5.
pubmed: 24384826 doi: 10.1007/s10067-013-2467-0
Lloyd TE, Pinal-Fernandez I, Michelle EH, Christopher-Stine L, Pak K, Sacktor N, et al. Overlapping features of polymyositis and inclusion body myositis in HIV-infected patients. Neurology. 2017;88(15):1454–60.
pubmed: 28283597 pmcid: 5386438 doi: 10.1212/WNL.0000000000003821
Uruha A, Noguchi S, Hayashi YK, Tsuburaya RS, Yonekawa T, Nonaka I, et al. Hepatitis C virus infection in inclusion body myositis: a case-control study. Neurology. 2016;86(3):211–7.
pubmed: 26683644 doi: 10.1212/WNL.0000000000002291
Smadja D, Bellance R, Cabre P, Arfi S, Vernant JC. Clinical characteristics of HTLV-1 associated dermato-polymyositis. Seven cases from Martinique. Acta Neurol Scand. 1995;92(3):206–12.
pubmed: 7484073 doi: 10.1111/j.1600-0404.1995.tb01689.x
Pinal-Fernandez I, Ferrer-Fabregas B, Trallero-Araguas E, Balada E, Martinez MA, Milisenda JC, et al. Tumour TIF1 mutations and loss of heterozygosity related to cancer-associated myositis. Rheumatology (Oxford). 2018;57(2):388–96.
pubmed: 29149307 doi: 10.1093/rheumatology/kex413
Cordel N, Derambure C, Coutant S, Mariette X, Jullien D, Debarbieux S, et al. TRIM33 gene somatic mutations identified by next generation sequencing in neoplasms of patients with anti-TIF1gamma positive cancer-associated dermatomyositis. Rheumatology (Oxford). 2021;60(12):5863–7.
pubmed: 33764396 doi: 10.1093/rheumatology/keab260
Selva-O’Callaghan A, Trallero-Araguas E, Ros J, Gil-Vila A, Lostes J, Agusti A, et al. Management of Cancer-Associated Myositis. Curr Treatm Opt Rheumatol. 2022;8(4):91–104.
pubmed: 36313478 pmcid: 9589595 doi: 10.1007/s40674-022-00197-2
Hosono Y, Sie B, Pinal-Fernandez I, Pak K, Mecoli CA, Casal-Dominguez M, et al. Coexisting autoantibodies against transcription factor Sp4 are associated with decreased cancer risk in patients with dermatomyositis with anti-TIF1gamma autoantibodies. Ann Rheum Dis. 2023;82(2):246–52. New coexisting autoantibody in patients with anti-TIF1g dermatomyositis negatively associated with the risk of cancer.
pubmed: 36008132 doi: 10.1136/ard-2022-222441
Fiorentino D, Mecoli CA, Igusa T, Albayda J, Paik JJ, Tiniakou E, et al. Association of Anti-CCAR1 autoantibodies with decreased Cancer Risk relative to the General Population in patients with anti-transcriptional intermediary factor 1gamma-Positive Dermatomyositis. Arthritis Rheumatol. 2023;75(7):1238–45.
pubmed: 36762496 pmcid: 10313743 doi: 10.1002/art.42474
Bax CE, Maddukuri S, Ravishankar A, Pappas-Taffer L, Werth VP. Environmental triggers of dermatomyositis: a narrative review. Ann Transl Med. 2021;9(5):434.
pubmed: 33842655 pmcid: 8033368 doi: 10.21037/atm-20-3719
Mammen AL, Chung T, Christopher-Stine L, Rosen P, Rosen A, Doering KR, et al. Autoantibodies against 3-hydroxy-3-methylglutaryl-coenzyme A reductase in patients with statin-associated autoimmune myopathy. Arthritis Rheum. 2011;63(3):713–21.
pubmed: 21360500 pmcid: 3335400 doi: 10.1002/art.30156
Basharat P, Lahouti AH, Paik JJ, Albayda J, Pinal-Fernandez I, Bichile T, et al. Statin-Induced Anti-HMGCR-Associated Myopathy. J Am Coll Cardiol. 2016;68(2):234–5.
pubmed: 27386780 pmcid: 5640444 doi: 10.1016/j.jacc.2016.04.037
Ge Y, Lu X, Peng Q, Shu X, Wang G. Clinical characteristics of Anti-3-Hydroxy-3-Methylglutaryl Coenzyme A Reductase Antibodies in Chinese patients with idiopathic inflammatory myopathies. PLoS ONE. 2015;10(10):e0141616.
pubmed: 26509687 pmcid: 4624805 doi: 10.1371/journal.pone.0141616
Kosche C, Stout M, Sosman J, Lukas RV, Choi JN. Dermatomyositis in a patient undergoing nivolumab therapy for metastatic melanoma: a case report and review of the literature. Melanoma Res. 2020;30(3):313–6.
pubmed: 31567590 doi: 10.1097/CMR.0000000000000642
Lin J, Xue M, Gao M, Yu P, Han S. Toripalimab-Induced Dermatomyositis in a patient with metastatic melanoma. Dermatol Ther (Heidelb). 2020;10(4):863–7.
pubmed: 32445174 doi: 10.1007/s13555-020-00396-6
Tahir SA, Gao J, Miura Y, Blando J, Tidwell RSS, Zhao H, et al. Autoimmune antibodies correlate with immune checkpoint therapy-induced toxicities. Proc Natl Acad Sci U S A. 2019;116(44):22246–51.
pubmed: 31611368 pmcid: 6825284 doi: 10.1073/pnas.1908079116
Lozano AX, Chaudhuri AA, Nene A, Bacchiocchi A, Earland N, Vesely MD, et al. T cell characteristics associated with toxicity to immune checkpoint blockade in patients with melanoma. Nat Med. 2022;28(2):353–62.
pubmed: 35027754 pmcid: 8866214 doi: 10.1038/s41591-021-01623-z
Hutchinson JA, Kronenberg K, Riquelme P, Wenzel JJ, Glehr G, Schilling HL, et al. Virus-specific memory T cell responses unmasked by immune checkpoint blockade cause hepatitis. Nat Commun. 2021;12(1):1439.
pubmed: 33664251 pmcid: 7933278 doi: 10.1038/s41467-021-21572-y
Mammen AL, Rajan A, Pak K, Lehky T, Casciola-Rosen L, Donahue RN, et al. Pre-existing antiacetylcholine receptor autoantibodies and B cell lymphopaenia are associated with the development of myositis in patients with thymoma treated with avelumab, an immune checkpoint inhibitor targeting programmed death-ligand 1. Ann Rheum Dis. 2019;78(1):150–2.
pubmed: 30185415 doi: 10.1136/annrheumdis-2018-213777
Matas-Garcia A, Milisenda JC, Selva-O’Callaghan A, Prieto-Gonzalez S, Padrosa J, Cabrera C, et al. Emerging PD-1 and PD-1L inhibitors-associated myopathy with a characteristic histopathological pattern. Autoimmun Rev. 2020;19(2):102455.
pubmed: 31838162 doi: 10.1016/j.autrev.2019.102455
Hailemichael Y, Johnson DH, Abdel-Wahab N, Foo WC, Bentebibel SE, Daher M, et al. Interleukin-6 blockade abrogates immunotherapy toxicity and promotes tumor immunity. Cancer Cell. 2022;40(5):509–e523506.
pubmed: 35537412 pmcid: 9221568 doi: 10.1016/j.ccell.2022.04.004
Bax CE, Chakka S, Concha JSS, Zeidi M, Werth VP. The effects of immunostimulatory herbal supplements on autoimmune skin diseases. J Am Acad Dermatol. 2021;84(4):1051–8.
pubmed: 32553683 doi: 10.1016/j.jaad.2020.06.037
Zeidi M, Chansky PB, Werth VP. Acute onset/flares of dermatomyositis following ingestion of IsaLean herbal supplement: clinical and immunostimulatory findings. J Am Acad Dermatol. 2019;80(3):801–4.
pubmed: 30165168 doi: 10.1016/j.jaad.2018.08.019
Lamb JA. The Genetics of Autoimmune Myositis. Front Immunol. 2022;13:886290.
pubmed: 35693792 pmcid: 9178267 doi: 10.3389/fimmu.2022.886290
Miller FW, Chen W, O’Hanlon TP, Cooper RG, Vencovsky J, Rider LG, 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(7):470–80.
pubmed: 26291516 pmcid: 4840953 doi: 10.1038/gene.2015.28
Mammen AL, Gaudet D, Brisson D, Christopher-Stine L, Lloyd TE, Leffell MS, et al. Increased frequency of DRB1*11:01 in anti-hydroxymethylglutaryl-coenzyme A reductase-associated autoimmune myopathy. Arthritis Care Res (Hoboken). 2012;64(8):1233–7.
pubmed: 22422616 doi: 10.1002/acr.21671
Rothwell S, Chinoy H, Lamb JA, Miller FW, Rider LG, Wedderburn LR, et al. Focused HLA analysis in caucasians with myositis identifies significant associations with autoantibody subgroups. Ann Rheum Dis. 2019;78(7):996–1002.
pubmed: 31138531 doi: 10.1136/annrheumdis-2019-215046
Leclair V, Galindo-Feria AS, Rothwell S, Krystufkova O, Zargar SS, Mann H, et al. Distinct HLA associations with autoantibody-defined subgroups in idiopathic inflammatory myopathies. EBioMedicine. 2023;96:104804.
pubmed: 37769433 pmcid: 10550566 doi: 10.1016/j.ebiom.2023.104804
Graham RR, Ortmann W, Rodine P, Espe K, Langefeld C, Lange E, et al. Specific combinations of HLA-DR2 and DR3 class II haplotypes contribute graded risk for disease susceptibility and autoantibodies in human SLE. Eur J Hum Genet. 2007;15(8):823–30.
pubmed: 17406641 doi: 10.1038/sj.ejhg.5201827
Pinal-Fernandez I, Casal-Dominguez M, Derfoul A, Pak K, Miller FW, Milisenda JC, et al. Machine learning algorithms reveal unique gene expression profiles in muscle biopsies from patients with different types of myositis. Ann Rheum Dis. 2020;79(9):1234–42.
pubmed: 32546599 doi: 10.1136/annrheumdis-2019-216599
Amici DR, Pinal-Fernandez I, Christopher-Stine L, Mammen AL, Mendillo ML. A network of core and subtype-specific gene expression programs in myositis. Acta Neuropathol. 2021;142(5):887–98.
pubmed: 34499219 pmcid: 8555743 doi: 10.1007/s00401-021-02365-5
Pinal-Fernandez I, Milisenda JC, Pak K, Munoz-Braceras S, Casal-Dominguez M, Torres-Ruiz J et al. Transcriptional derepression of CHD4/NuRD-regulated genes in the muscle of patients with dermatomyositis and anti-Mi2 autoantibodies. Ann Rheum Dis. 2023; 82(8):1091–1097.
El Abdellaoui-Soussi F, Yunes-Leites PS, Lopez-Maderuelo D, Garcia-Marques F, Vazquez J, Redondo JM et al. Interplay between the Chd4/NuRD complex and the transcription factor Znf219 controls Cardiac Cell Identity. Int J Mol Sci 2022; 23(17).
Gomez-Del Arco P, Perdiguero E, Yunes-Leites PS, Acin-Perez R, Zeini M, Garcia-Gomez A, et al. The chromatin remodeling complex Chd4/NuRD controls striated muscle identity and metabolic homeostasis. Cell Metab. 2016;23(5):881–92.
Pinal-Fernandez I, Munoz-Braceras S, Casal-Dominguez M, Pak K, Torres-Ruiz J, Musai J et al. Pathological autoantibody internalisation in myositis. Ann Rheum Dis. 2024 Jun 20.
Flynn RA, Almada AE, Zamudio JR, Sharp PA. Antisense RNA polymerase II divergent transcripts are P-TEFb dependent and substrates for the RNA exosome. Proc Natl Acad Sci U S A. 2011;108(26):10460–5.
pubmed: 21670248 pmcid: 3127934 doi: 10.1073/pnas.1106630108
Kilchert C, Wittmann S, Vasiljeva L. The regulation and functions of the nuclear RNA exosome complex. Nat Rev Mol Cell Biol. 2016;17(4):227–39.
pubmed: 26726035 doi: 10.1038/nrm.2015.15
Kato H, Takeuchi O, Sato S, Yoneyama M, Yamamoto M, Matsui K, et al. Differential roles of MDA5 and RIG-I helicases in the recognition of RNA viruses. Nature. 2006;441(7089):101–5.
pubmed: 16625202 doi: 10.1038/nature04734
Van Gompel E, Demirdal D, Fernandes-Cerqueira C, Horuluoglu B, Galindo-Feria A, Wigren E, et al. Autoantibodies against the melanoma differentiation-associated protein 5 in patients with dermatomyositis target the helicase domains. Rheumatology (Oxford). 2024;63(5):1466–73.
pubmed: 37572295 doi: 10.1093/rheumatology/kead400
Ye Y, Chen Z, Jiang S, Jia F, Li T, Lu X, et al. Single-cell profiling reveals distinct adaptive immune hallmarks in MDA5 + dermatomyositis with therapeutic implications. Nat Commun. 2022;13(1):6458.
pubmed: 36309526 pmcid: 9617246 doi: 10.1038/s41467-022-34145-4
Cassius C, Amode R, Delord M, Battistella M, Poirot J, How-Kit A, et al. MDA5(+) Dermatomyositis is Associated with stronger skin type I Interferon Transcriptomic signature with Upregulation of IFN-kappa transcript. J Invest Dermatol. 2020;140(6):1276–e12791277.
pubmed: 31955963 doi: 10.1016/j.jid.2019.10.020
Rajendran V, Kalita P, Shukla H, Kumar A, Tripathi T. Aminoacyl-tRNA synthetases: structure, function, and drug discovery. Int J Biol Macromol. 2018;111:400–14.
pubmed: 29305884 doi: 10.1016/j.ijbiomac.2017.12.157
Mathews MB, Bernstein RM. Myositis autoantibody inhibits histidyl-tRNA synthetase: a model for autoimmunity. Nat 1983 Jul 14–20; 304(5922):177–9.
Luo J, Yang H, Song BL. Mechanisms and regulation of cholesterol homeostasis. Nat Rev Mol Cell Biol. 2020;21(4):225–45.
pubmed: 31848472 doi: 10.1038/s41580-019-0190-7
Yogev Y, Shorer Z, Koifman A, Wormser O, Drabkin M, Halperin D, et al. Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone. Proc Natl Acad Sci U S A. 2023;120(7):e2217831120.
Morales-Rosado JA, Schwab TL, Macklin-Mantia SK, Foley AR, Pinto EVF, Pehlivan D, et al. Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy. Am J Hum Genet. 2023;110(6):989–97.
pubmed: 37167966 pmcid: 10257193 doi: 10.1016/j.ajhg.2023.04.006
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(5):664–78.
pubmed: 15852401 doi: 10.1002/ana.20464
Greenberg SA, Sanoudou D, Haslett JN, Kohane IS, Kunkel LM, Beggs AH, et al. Molecular profiles of inflammatory myopathies. Neurology. 2002;59(8):1170–82.
pubmed: 12391344 doi: 10.1212/WNL.59.8.1170
Pinal-Fernandez I, Greenberg SA. Type I interferons in Dermatomyositis myoblasts: toxic effect and a potential Autocrine Loop. Neurology. 2022;98(21):869–70.
pubmed: 35351789 doi: 10.1212/WNL.0000000000200679
Rigolet M, Hou C, Baba Amer Y, Aouizerate J, Periou B, Gherardi RK, et al. Distinct interferon signatures stratify inflammatory and dysimmune myopathies. RMD Open. 2019;5(1):e000811.
pubmed: 30886734 pmcid: 6397431 doi: 10.1136/rmdopen-2018-000811
Pinal-Fernandez I, Casal-Dominguez M, Derfoul A, Pak K, Plotz P, Miller FW, et al. Identification of distinctive interferon gene signatures in different types of myositis. Neurology. 2019;93(12):e1193–204.
pubmed: 31434690 pmcid: 6808530 doi: 10.1212/WNL.0000000000008128
Gaidt MM, Morrow A, Fairgrieve MR, Karr JP, Yosef N, Vance RE. Self-guarding of MORC3 enables virulence factor-triggered immunity. Nature. 2021;600(7887):138–42.
pubmed: 34759314 pmcid: 9045311 doi: 10.1038/s41586-021-04054-5
Ferri F, Parcelier A, Petit V, Gallouet AS, Lewandowski D, Dalloz M, et al. TRIM33 switches off Ifnb1 gene transcription during the late phase of macrophage activation. Nat Commun. 2015;6:8900.
pubmed: 26592194 doi: 10.1038/ncomms9900
Bergua C, Chiavelli H, Allenbach Y, Arouche-Delaperche L, Arnoult C, Bourdenet G, 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(1):131–9.
pubmed: 30309969 doi: 10.1136/annrheumdis-2018-213518
Allenbach Y, Arouche-Delaperche L, Preusse C, Radbruch H, Butler-Browne G, Champtiaux N et al. Necrosis in anti-SRP(+) and anti-HMGCR(+)myopathies: Role of autoantibodies and complement. Neurology. 2018 Jan 12.
Julien S, Vadysirisack D, Sayegh C, Ragunathan S, Tang Y, Briand E et al. Prevention of Anti-HMGCR Immune-mediated necrotising myopathy by C5 complement inhibition in a Humanised Mouse Model. Biomedicines. 2022; 10(8).
Mammen AL, Amato AA, Dimachkie MM, Chinoy H, Hussain Y, Lilleker JB et al. Zilucoplan in immune-mediated necrotising myopathy: a phase 2, randomised, double-blind, placebo-controlled, multicentre trial. Lancet Rheumatol. 2023; 5(2):e67-e76.
Aggarwal R, Domyslawska I, Carreira P, Fiorentino D, Sluzevich J, Werth V, et al. POS1207 EFFICACY AND SAFETY OF ANTI-IFNΒ-SPECIFIC MONOCLONAL, ANTIBODY, PF-06823859, ON MYOSITIS: PHASE 2 STUDY IN PATIENTS WITH MODERATE-TO-SEVERE DERMATOMYOSITIS. Ann Rheum Dis. 2023;82(Suppl 1):936–7.
Shaw KS, Reusch DB, Castillo RL, Hashemi KB, Sundel R, Dedeoglu F, et al. Rapid Improvement in recalcitrant cutaneous juvenile Dermatomyositis with Anifrolumab Treatment. JAMA Dermatol. 2024;160(2):237–8.
pubmed: 37950917 doi: 10.1001/jamadermatol.2023.4744
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(26):2537–8.
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(6):1609–21.
pubmed: 29741608 doi: 10.1093/brain/awy105
Paik JJ, Casciola-Rosen L, Shin JY, Albayda J, Tiniakou E, Leung DG, et al. Study of Tofacitinib in Refractory Dermatomyositis: an open-label pilot study of ten patients. Arthritis Rheumatol. 2021;73(5):858–65.
pubmed: 33258553 pmcid: 8084900 doi: 10.1002/art.41602
Kim H, Dill S, O’Brien M, Vian L, Li X, Manukyan M et al. Janus kinase (JAK) inhibition with baricitinib in refractory juvenile dermatomyositis. Ann Rheum Dis. 2020 Aug 25.
Aggarwal R, Charles-Schoeman C, Schessl J, Bata-Csorgo Z, Dimachkie MM, Griger Z, et al. Trial of Intravenous Immune Globulin in Dermatomyositis. N Engl J Med. 2022;387(14):1264–78.
Dalakas MC, Illa I, Dambrosia JM, Soueidan SA, Stein DP, Otero C, et al. A controlled trial of high-dose intravenous immune globulin infusions as treatment for dermatomyositis. N Engl J Med. 1993;329(27):1993–2000.
pubmed: 8247075 doi: 10.1056/NEJM199312303292704
Oddis CV, Reed AM, Aggarwal R, Rider LG, Ascherman DP, Levesque MC, et al. Rituximab in the treatment of refractory adult and juvenile dermatomyositis and adult polymyositis: a randomized, placebo-phase trial. Arthritis Rheum. 2013;65(2):314–24.
pubmed: 23124935 pmcid: 3558563 doi: 10.1002/art.37754
Howard JF Jr., Bril V, Vu T, Karam C, Peric S, Margania T, et al. Safety, efficacy, and tolerability of efgartigimod in patients with generalised myasthenia gravis (ADAPT): a multicentre, randomised, placebo-controlled, phase 3 trial. Lancet Neurol. 2021;20(7):526–36.
Bucci L, Hagen M, Rothe T, Raimondo MG, Fagni F, Tur C, et al. Bispecific T cell engager therapy for refractory rheumatoid arthritis. Nat Med. 2024;30(6):1593–601.
pubmed: 38671240 doi: 10.1038/s41591-024-02964-1
Muller F, Taubmann J, Bucci L, Wilhelm A, Bergmann C, Volkl S, et al. CD19 CAR T-Cell therapy in Autoimmune Disease - A Case Series with Follow-up. N Engl J Med. 2024;390(8):687–700.
pubmed: 38381673 doi: 10.1056/NEJMoa2308917
Pecher AC, Hensen L, Klein R, Schairer R, Lutz K, Atar D, et al. CD19-Targeting CAR T cells for myositis and interstitial lung Disease Associated with antisynthetase syndrome. JAMA. 2023;329(24):2154–62.
pubmed: 37367976 pmcid: 10300719 doi: 10.1001/jama.2023.8753
Nicolai R, Merli P, Moran Alvarez P, Bracaglia C, Del Bufalo F, Marasco E et al. Autologous CD19- targeting CAR T cells in refractory juvenile dermatomyositis. Arthritis Rheumatol. 2024 Jun 24.
Qin C, Dong MH, Zhou LQ, Wang W, Cai SB, You YF, et al. Single-cell analysis of refractory anti-SRP necrotizing myopathy treated with anti-BCMA CAR-T cell therapy. Proc Natl Acad Sci U S A. 2024;121(6):e2315990121.
Larman HB, Salajegheh M, Nazareno R, Lam T, Sauld J, Steen H, et al. Cytosolic 5’-nucleotidase 1A autoimmunity in sporadic inclusion body myositis. Ann Neurol. 2013;73(3):408–18.
Lloyd TE, Christopher-Stine L, Pinal-Fernandez I, Tiniakou E, Petri M, Baer A, et al. Cytosolic 5’-Nucleotidase 1A as a target of circulating autoantibodies in Autoimmune diseases. Arthritis Care Res (Hoboken). 2016;68(1):66–71.
pubmed: 25892010 doi: 10.1002/acr.22600
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(Pt 5):1348–60.
pubmed: 26920676 doi: 10.1093/brain/aww024
Britson KA, Ling JP, Braunstein KE, Montagne JM, Kastenschmidt JM, Wilson A, et al. Loss of TDP-43 function and rimmed vacuoles persist after T cell depletion in a xenograft model of sporadic inclusion body myositis. Sci Transl Med. 2022;14(628):eabi9196.
Goel N, Needham M, Soler-Ferran D, Cotreau MM, Escobar J, Greenberg S, POS1342 DEPLETION, OF KLRG1 + T CELLS IN A FIRST-IN-HUMAN CLINICAL TRIAL OF ABC008 IN INCLUSION BODY MYOSITIS (IBM). Ann Rheum Dis. 2022;81(Suppl 1):1008–9.
Benveniste O, Hogrel JY, Belin L, Annoussamy M, Bachasson D, Rigolet A, et al. Sirolimus for treatment of patients with inclusion body myositis: a randomised, double-blind, placebo-controlled, proof-of-concept, phase 2b trial. Lancet Rheumatol. 2021;3(1):e40–8.
pubmed: 38273639 doi: 10.1016/S2665-9913(20)30280-0

Auteurs

Jon Musai (J)

Muscle Disease Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, 50 South Drive, Room 1141, Building 50, MSC 8024, Bethesda, MD, 20892, USA.

Andrew L Mammen (AL)

Muscle Disease Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, 50 South Drive, Room 1141, Building 50, MSC 8024, Bethesda, MD, 20892, USA. andrew.mammen@nih.gov.
Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. andrew.mammen@nih.gov.

Iago Pinal-Fernandez (I)

Muscle Disease Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, 50 South Drive, Room 1141, Building 50, MSC 8024, Bethesda, MD, 20892, USA. iago.pinalfernandez@nih.gov.
Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. iago.pinalfernandez@nih.gov.

Classifications MeSH