title: Four dermatomyositis-specific autoantibodies-anti-TIF1γ, anti-NXP2, anti-SAE and anti-MDA5-in adult and juvenile patients with idiopathic inflammatory myopathies in a Hungarian cohort.
abstract: Idiopathic inflammatory myopathies (IIMs) are chronic systemic autoimmune diseases characterised by symmetrical, proximal muscle weakness. Dermatomyositis represents one subset of IIMs, in which skin rashes are present in addition to muscle weakness. Myositis-specific antibodies can only be detected in myositis, and they are directed against specific proteins found in the cytoplasm or in the nucleus of cells. With this case-based article, we introduce the recently detected anti-TIF1γ, anti-NXP2, anti-SAE and anti-MDA5 antibodies that form various clinical groups. These antibodies could be detected in patients with dermatomyositis. The myositis-specific autoantibodies of three hundred and thirty-seven Hungarian patients with IIM were detected. Retrospective analysis of the clinical findings has also been introduced by revision of the medical history. We had twelve patients with anti-TIF1γ positivity, four patients with anti-NXP2 positivity and four patients with anti-SAE positivity. We did not have any positive anti-MDA5 patients. The most relevant clinical findings were similar to those seen in previously published reports. Eleven of the twelve patients with anti-TIF1γ positivity had classical dermatomyositis. Three of the twelve anti-TIF1γ patients had cancer during the disease progression. This was two out of four for the anti-NXP2 subgroup and one in four for the anti-SAE subgroup. In two juvenile dermatomyositis cases, typical ulceration was seen in patients with anti-TIF1γ positivity. The frequency of pulmonary fibrosis during the disease progression was 2/12, 1/4 and 1/4 in anti-TIF1γ, anti-NXP2 and anti-SAE, respectively. Other extra-muscular manifestations, such as arthralgia, dysphagia, dysphonia and dyspnoea, were also detectable. The myositis subgroups determined by these myositis-specific autoantibodies differ from each other in their symptoms, prognosis and therapy responsiveness. Their detection is helpful for the preparation of an adequate treatment, but in daily diagnostic methods, these antibodies cannot be detected. By presenting our anti-TIF1γ, anti-NXP2 and anti-SAE cases, we would like to highlight the clinical role of these antibodies.
authors.affiliation: Department of Clinical Immunology, Medical Faculty, University of Debrecen, Móricz Zs. krt. 22. H-4032, Debrecen, Hungary. Electronic address: bodoki.levente@gmail.com.
authors.forename: Levente
authors.initials: L
authors.lastname: Bodoki
authors.affiliation: Department of Clinical Immunology, Medical Faculty, University of Debrecen, Móricz Zs. krt. 22. H-4032, Debrecen, Hungary. Electronic address: melinda.nagyvincze@gmail.com.
authors.forename: Melinda
authors.initials: M
authors.lastname: Nagy-Vincze
authors.affiliation: Department of Clinical Immunology, Medical Faculty, University of Debrecen, Móricz Zs. krt. 22. H-4032, Debrecen, Hungary. Electronic address: grigerz@gmail.com.
authors.forename: Zoltán
authors.initials: Z
authors.lastname: Griger
authors.affiliation: Royal National Hospital for Rheumatic Diseases, NHS Foundation Trust, Upper Borough Walls, Bath, Somerset BA1 1RL, UK. Electronic address: prpzeb@bath.ac.uk.
authors.forename: Zoe
authors.initials: Z
authors.lastname: Betteridge
authors.affiliation: Department of Clinical Immunology, Medical Faculty, University of Debrecen, Móricz Zs. krt. 22. H-4032, Debrecen, Hungary. Electronic address: ibolya_szollosi@freemail.hu.
authors.forename: Lászlóné
authors.initials: L
authors.lastname: Szöllősi
authors.affiliation: Department of Clinical Immunology, Medical Faculty, University of Debrecen, Móricz Zs. krt. 22. H-4032, Debrecen, Hungary. Electronic address: katalin.danko@gmail.com.
authors.forename: Katalin
authors.initials: K
authors.lastname: Dankó
mesh_terms: D000293:Adolescent; D000328:Adult; D001323:Autoantibodies / Q000276:immunology*; D015331:Cohort Studies; D003882:Dermatomyositis / Q000276:immunology*; D018450:Disease Progression; D006801:Humans; D006814:Hungary; D009220:Myositis; D011379:Prognosis
chemical_list: D001323:Autoantibodies
keywords: Anti-NXP2; Anti-SAE; Anti-TIF1γ; Idiopathic inflammatory myopathy; Myositis-specific autoantibodies