HLA association with the susceptibility to anti-synthetase syndrome

Remuzgo‐Martínez, Sara; Atienza‐Mateo, Belén; Ocejo-Vinyals, Javier Gonzalo; Pulito‐Cueto, Verónica; Prieto-Peña, D.; Genre, Fernanda; Márquez, Ana; Llorca, Javier; Cuesta, Víctor Manuel Mora; Iturbe-Fernández, David; Riesco, Laura; Ortego‐Centeno, Norberto; Gómez, Nair Pérez; Mera, Antonio; Martínez-Barrio, Julia; López‐Longo, Francisco Javier; Lera‐Gómez, Leticia; Moriano, C.; Díez, E.; Tomero, Eva; Calvo‐Alén, Jaime; Romero-Bueno, Fredeswinda; Sánchez‐Pernaute, Olga; Nuño, Laura; Bonilla, Gema; Grafia, Ignacio; Prieto-González, Sergio; Narváez, Javier; Trallero-Araguás, Ernesto; Selva-O’Callaghan, Albert; Gualillo, Oreste; Martı́n, Javier; Cavagna, Lorenzo; Castañeda, Santos; Cifrián, José; Renzoni, Elisabetta; López‐Mejías, Raquel

doi:10.1016/j.jbspin.2020.105115

Cited by 14 publications

(6 citation statements)

References 37 publications

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“…In this study, HLA-DRB1*03:01 allele was identified as predisposition markers of ASS and HLA-DRB1*07:01 had a protective effect in the susceptibility to ASS. Our case showed both HLA-DR15 (DRB1*15:01) and DR4 (DRB1*0405), which may not affect the susceptibility for ASS in the present case ( 17 ). COVID-19 infection may present with a multitude of pulmonary findings, including diffuse ground-glass opacities ( 18 ).…”

Section: Discussionmentioning

confidence: 40%

New-onset dermatomyositis following COVID-19: A case report

Shimizu

Matsumoto²,

Sasajima³

et al. 2022

Front. Immunol.

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Coronavirus disease 2019 (COVID-19) is an infectious disease caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Most of the infected individuals have recovered without complications, but a few patients develop multiple organ involvements. Previous reports suggest an association between COVID-19 and various inflammatory myopathies, in addition to autoimmune diseases. COVID-19 has been known to exacerbate preexisting autoimmune diseases and trigger various autoantibodies and autoimmune disease occurrence. Here we report a case of complicated COVID-19 with anti-synthetase autoantibodies (ASSs) presenting with skin rash, muscle weakness, and interstitial lung disease (ILD) and subsequently diagnosed with dermatomyositis (DM). A 47-year-old Japanese male patient without any previous history of illness, including autoimmune diseases, presented with a high fever, sore throat, and cough. Oropharyngeal swab for SARS-Cov-2 polymerase chain reaction tested positive. He was isolated at home and did not require hospitalization. However, his respiratory symptoms continued, and he was treated with prednisolone (20 mg/day) for 14 days due to the newly developing interstitial shadows over the lower lobes of both lungs. These pulmonary manifestations remitted within a week. He presented with face edema and myalgia 4 weeks later when he was off corticosteroids. Subsequently, he presented with face erythema, V-neck skin rash, low-grade fever, and exertional dyspnea. High-resolution computed tomography of the chest showed ILD. Biochemical analysis revealed creatine kinase and aldolase elevations, in addition to transaminases. Anti-aminoacyl tRNA synthetase (ARS) was detected using an enzyme-linked immunosorbent assay (170.9 U/mL) (MESACUP™ (Medical & Biological Laboratories, Japan), and the tRNA component was identified as anti-PL-7 and anti-Ro-52 antibodies using an immunoblot assay [EUROLINE Myositis Antigens Profile 3 (IgG), Euroimmun, Lübeck,Germany]. The patient was diagnosed with DM, especially anti- synthase antibody syndrome based on the presence of myositis-specific antibodies, clinical features, and pathological findings. The present case suggests that COVID-19 may have contributed to the production of anti-synthetase antibodies (ASAs) and the development of de novo DM. Our case highlights the importance of the assessment of patients who present with inflammatory myopathy post-COVID-19 and appropriate diagnostic work-up, including ASAs, against the clinical features that mimic DM after post-COVID-19.

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Section: Discussionmentioning

confidence: 40%

New-onset dermatomyositis following COVID-19: A case report

Shimizu

Matsumoto²,

Sasajima³

et al. 2022

Front. Immunol.

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“…mechanic’s hands and constitutional symptoms in ASS versus skin thickening, digital ulcers, telangiectasias, calcinosis, myocarditis and PAH in scleromyositis), serological (autoantibodies targeting aminoacyl-tRNA synthetases in ASS versus SSc-associated autoantibodies, as detailed above, in scleromyositis) and histopathological (perifascicular fibers necrosis in ASS versus necrotizing myopathy and vasculopathy in scleromyositis) ( 6 , 20 , 196 ) characteristics indicate that ASS and scleromyositis are two distinct entities. Consistently, at the genetic level, the HLA-B*0801 and the HLA-DRB1 03:01 alleles are associated with anti-Jo-1 ASS, while anti-PM/Scl scleromyositis is associated with HLA-DQB1 02:01 allele ( 194 , 197 ).…”

Section: Discussionmentioning

confidence: 77%

Scleromyositis: A distinct novel entity within the systemic sclerosis and autoimmune myositis spectrum. Implications for care and pathogenesis

et al. 2023

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Systemic sclerosis and autoimmune myositis are both associated with decreased quality of life and increased mortality. Their prognosis and management largely depend on the disease subgroups. Indeed, systemic sclerosis is a heterogeneous disease, the two predominant forms of the disease being limited and diffuse scleroderma. Autoimmune myositis is also a heterogeneous group of myopathies that classically encompass necrotizing myopathy, antisynthetase syndrome, dermatomyositis and inclusion body myositis. Recent data revealed that an additional disease subset, denominated “scleromyositis”, should be recognized within both the systemic sclerosis and the autoimmune myositis spectrum. We performed an in-depth review of the literature with the aim of better delineating scleromyositis. Our review highlights that this concept is supported by recent clinical, serological and histopathological findings that have important implications for patient management and understanding of the disease pathophysiology. As compared with other subsets of systemic sclerosis and autoimmune myositis, scleromyositis patients can present with a characteristic pattern of muscle involvement (i.e. distribution of muscle weakness) along with multisystemic involvement, and some of these extra-muscular complications are associated with poor prognosis. Several autoantibodies have been specifically associated with scleromyositis, but they are not currently integrated in diagnostic and classification criteria for systemic sclerosis and autoimmune myositis. Finally, striking vasculopathic lesions at muscle biopsy have been shown to be hallmarks of scleromyositis, providing a strong anatomopathological substratum for the concept of scleromyositis. These findings bring new insights into the pathogenesis of scleromyositis and help to diagnose this condition, in patients with subtle SSc features and/or no autoantibodies (i.e. “seronegative” scleromyositis). No guidelines are available for the management of these patients, but recent data are showing the way towards a new therapeutic approach dedicated to these patients.

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“…On the other hand, DRB1*01:01, DRB1*04:10 and DRB1*15:02 were significantly more expressed in 83 Japanese IBM patients compared to controls (4). Susceptibility to antisynthetase syndrome (ASS), instead, was found increased in subjects expressing HLA-DRB1*03:01 and HLA-B*08:01 alleles, with the former significantly more frequent in anti-Jo1 versus non anti-Jo1 patients (5). Other studies focused on the genetic predisposition of developing specific phenotypes of IIMs.…”

Section: Pathogenesismentioning

confidence: 98%

“…C. Cardelli 1 , G. Zanframundo 2 , L. Cometi 3 , E. Marcucci 4 , A. Biglia 2 , L. Cavagna 2 , S. Barsotti 1,5 Idiopathic inflammatory myopathies: one year in review 2021 / C. Cardelli et al…”

Section: Review Idiopathic Inflammatory Myopathies: One Year In Revie...mentioning

confidence: 99%

Idiopathic inflammatory myopathies: one year in review 2021

Cardelli

Zanframundo

Cometi

et al. 2022

Clinical and Experimental Rheumatology

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Idiopathic inflammatory myopathies (IIMs) are a heterogeneous group of rare and complex connective tissue diseases, mainly characterised by inflammatory involvement of skeletal muscles. Several other organs may be affected, particularly lungs, heart, skin, gastrointestinal tract and joints, often determining the morbidity and mortality associated with these autoimmune disorders. The course is generally chronic and the onset subacute. This latter aspect, together with the rarity of these conditions, can result in a clinical challenge for the physician with a considerable diagnostic delay. The scientific literature makes continuous advances in the understanding of these diseases, in particular with regards to the pathogenesis, serological findings, diagnostic strategies and therapeutic approaches. The aim of this review is to highlight the most relevant literature contributions published on this topic over the last year.

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HLA association with the susceptibility to anti-synthetase syndrome

Cited by 14 publications

References 37 publications

New-onset dermatomyositis following COVID-19: A case report

New-onset dermatomyositis following COVID-19: A case report

Scleromyositis: A distinct novel entity within the systemic sclerosis and autoimmune myositis spectrum. Implications for care and pathogenesis

Idiopathic inflammatory myopathies: one year in review 2021

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