{"database":"Pride","file_versions":[{"headers":{"Content-Type":["application/json"]},"body":{"files":{"Xlsx":["ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2026/04/PXD070103/Data_and_Sample_Matrix.xlsx"],"Txt":["ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2026/04/PXD070103/checksum.txt"],"Csv":["ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2026/04/PXD070103/20240703_072649_AH_BCIM_Kleefeld_adult_ctrls_Report.csv"],"Raw":["ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2026/04/PXD070103/QExactiveHF02_19052.raw","ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2026/04/PXD070103/QExactiveHF02_19069.raw","ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2026/04/PXD070103/QExactiveHF02_19011.raw","ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2026/04/PXD070103/QExactiveHF02_19035.raw","ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2026/04/PXD070103/QExactiveHF02_19065.raw","ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2026/04/PXD070103/QExactiveHF02_19030.raw","ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2026/04/PXD070103/QExactiveHF02_19073.raw","ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2026/04/PXD070103/QExactiveHF02_19056.raw","ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2026/04/PXD070103/QExactiveHF02_19023.raw","ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2026/04/PXD070103/QExactiveHF02_19010.raw","ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2026/04/PXD070103/QExactiveHF02_19059.raw","ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2026/04/PXD070103/QExactiveHF02_19046.raw"],"Mgf":["ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2026/04/PXD070103/QExactiveHF02_19010.mgf"],"Other":["ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2026/04/PXD070103/20240703_072649_AH_BCIM_Kleefeld_adult_ctrls.sne"]},"type":"primary"},"statusCode":"OK","statusCodeValue":200}],"scores":null,"additional":{"labhead_mail":["albert.sickmann@isas.de"],"submitter":["Andreas Hentschel"],"technology_type":["Mass Spectrometry","Bottom-up proteomics","Data-independent acquisition"],"software":["Not available"],"submitter_keywords":["Myositis","B cells","Inflammatory myopathy","Systemic clerosis"],"full_dataset_link":["https://www.ebi.ac.uk/pride/archive/projects/PXD070103"],"tissue":["Skeletal Muscle"],"sample_protocol":["Muscle tissues were lysed in 200 μl of 50 mM Tris-HCl (pH 7.8) buffer, 5% SDS and cOmplete ULTRA protease inhibitor (Roche) using a Bioruptor® sonication device (Diagenode) for 10 min (30 s on, 30 s off, 10 cycles) at 4 °C. To ensure complete lysis, an additional sonication step was performed by ultrasound (30 s, 1 s/1 s, amplitude 40%), followed by centrifugation at 4 °C and 20,000 g for 15 min. Protein concentration of the supernatant was determined by BCA assay (Pierce) according to the manufacturer's protocol. Disulfide bonds were reduced by addition of 10 mM Tris(2-carboxyethyl)phosphine hydrochloride (TCEP) at 37 °C for 30 min, and free sulfhydryl bonds were alkylated with 15 mM IAA at room temperature (RT) in the dark for 30 min. From each sample 100 μg of protein was used for proteolysis utilizing the S-trap protocol (Protifi) and a protein-to-trypsin ratio of 20:1. The samples were incubate for 2 h at 37 °C. Proteolysis was stopped by acidification of the sample (pH < 3.0) with formic acid to acidify the sample. All proteolytic digests were checked for complete digestion after desalting by monolithic column separation (PepSwift monolithic PS-DVB PL-CAP200-PM, Dionex) on an inert Ultimate 3000 HPLC (Dionex, Germering, Germany) by direct injection of 1 μg protein per sample. A binary gradient (solvent A: 0.1% TFA, solvent B: 0.08% TFA, 84% ACN) of 5–12% B in 5 min and then of 12–50% B in 15 min was applied at a flow rate of 2.2 μl/min and at 60 °C. UV traces were recorded at 214 nm"],"repository":["Pride"],"quantification_method":["Not available"],"modification":[""],"data_protocol":["Categorical variables were reported as counts and percentages and compared using Fisher’s exact test. Quantitative variables were reported as mean ± standard deviation (SD) or as median with interquartile range (IQR), depending on data distribution. Group comparisons of continuous variables were performed using the Mann–Whitney test or the Kruskal–Wallis test with Dunn’s multiple comparisons, as appropriate. Spearman’s rank-order correlation was used to assess associations between quantitative variables. A p-value of <0.05 was considered statistically significant. Outliers were identified and excluded using the ROUT method with a false discovery rate (Q) of 1%. Statistical analyses were performed using GraphPad Prism version 9.2.0, which reports exact p-values where applicable, including in the presence of tied values."],"omics_type":["Proteomics"],"labhead":["Prof. Dr. Albert Sickmann"],"instrument_platform":[""],"labhead_affiliation":["Proteomics, Leibniz-Institut für analytische Wissenschaften -ISAS - e.V., Germany"],"submission_type":["PARTIAL"],"species":["Homo Sapiens (human)"],"submitter_mail":["andreas.hentschel@isas.de"],"publication":["41934478 Kleefeld F, Teran Gamboa J, Pinal-Fernandez I, Preusse C, Nelke C, Goebel HH, Mensch A, Mossakowski A, Miah MU, Diaz-Manera J, Torchia E, Bortolani S, Hentschel A, Funke A, Souvannanorath S, Authier FJ, Malfatti E, Gehrig J, Mammen AL, Casal-Dominguez M, De Winter J, De Ridder W, Ruck T, Schneider U, Roos A, Gallardo E, Tasca G, Stenzel W. Brachio-cervical inflammatory myopathy: multilevel clinical, histopathological and multi-omic analyses of a syndrome variably associated with systemic sclerosis. Acta Neuropathol. 2026 151(1):35 10.1007/s00401-026-03006-5"],"submitter_affiliation":["Leibniz Institut für Analytische Wissenschaften"],"submitter_country":["Germany"],"pubmed_abstract":["Brachio-cervical inflammatory myopathy (BCIM) is a rare and under-characterized subtype of idiopathic inflammatory myopathies (IIM), marked by prominent upper limb and neck muscle involvement. Since its initial description in 2006, few studies have addressed its clinical spectrum or pathogenesis, and its potential overlap with systemic sclerosis (SSc) remains a matter of debate. Here, we aimed to characterize the clinical, histopathological, and molecular features of BCIM in a large multicenter cohort and determine whether BCIM represents a characteristic clinico-pathological syndrome within the IIM spectrum or reflects an atypical presentation of SSc-associated myositis. We studied 26 patients with clinically and histologically confirmed BCIM from seven European centers. Clinical data, treatment responses, and autoantibody profiles were collected retrospectively from participating centers. Histopathological and immunohistochemical analyses were performed on muscle biopsies, and 12 muscle biopsy specimens underwent bulk RNA sequencing, including a comparison with 669 non-BCIM myositis datasets. Proteomic profiling was performed in an independent subset. Clinical overlap with SSc was defined using the 2013 American College of Rheumatology/European League Against Rheumatism (ACR/EULAR) criteria. The cohort was predominantly female (88%) with a mean age of 51 years [standard deviation (SD) ± 15.0]. Core features included asymmetrical proximal upper limb weakness (100%), dropped head (62%), dysphagia (46%), and facial weakness (54%). Although 35% showed clinical overlap with SSc, 65% of patients did not meet SSc criteria. All patients received corticosteroids; 65% required additional immunosuppression, yet complete clinical remission was uncommon in this retrospective cohort, although outcome assessment was limited by heterogeneous follow-up. Histopathology revealed dense endomysial inflammation with T cell predominance and prominent endo- and perimysial B-cell/plasma-cell-rich clusters with variable fibrosis. CD45⁺ and CD8⁺ cells were more abundant in patients without SSc overlap. RNA sequencing revealed a strong B-cell/plasma-cell signature, M2-like macrophage polarization, and downregulation of mitochondrial gene expression. Proteomics highlighted broad alterations in oxidative phosphorylation, aerobic respiration, and ATP synthesis pathways. BCIM shows a characteristic constellation of clinical, histological, and molecular features within the IIM spectrum. While a subset of patients meets criteria for SSc overlap, many do not, and the consistent presence of B-cell-rich inflammation together with downregulation of mitochondrial transcripts and proteins highlights shared pathogenic mechanisms within the cohort. These findings support the concept of BCIM as a myositis syndrome with heterogeneous SSc association and highlight a prominent B-cell/plasma-cell signature in BCIM, which warrants further evaluation of B-cell-directed approaches in future, prospective studies."],"pubmed_title":["Brachio-cervical inflammatory myopathy: multilevel clinical, histopathological and multi-omic analyses of a syndrome variably associated with systemic sclerosis."],"pubmed_authors":["Kleefeld Felix F, Teran Gamboa Joanna J, Pinal-Fernandez Iago I, Preusse Corinna C, Nelke Christopher C, Goebel Hans-Hilmar HH, Mensch Alexander A, Mossakowski Agata A, Miah Mohi-Uddin MU, Diaz-Manera Jordi J, Torchia Eleonora E, Bortolani Sara S, Hentschel Andreas A, Funke Andreas A, Souvannanorath Sarah S, Authier François-Jérôme FJ, Malfatti Edoardo E, Gehrig Johannes J, Mammen Andrew L AL, Casal-Dominguez Maria M, De Winter Jonathan J, De Ridder Willem W, Ruck Tobias T, Schneider Udo U, Roos Andreas A, Gallardo Eduard E, Tasca Giorgio G, Stenzel Werner W"],"additional_accession":[]},"is_claimable":false,"name":"Brachio-Cervical Inflammatory Myopathy: A Distinct Syndrome with Variable Association to Systemic Sclerosis — Insights from Clinical, Histopathological, and Transcriptomic Profiling","description":"Brachio-cervical inflammatory myopathy (BCIM) is a rare and under-characterized subtype of idiopathic inflammatory myopathies (IIM), marked by prominent upper limb and neck muscle involvement. Since its initial description in 2006, few studies have addressed its clinical spectrum or pathogenesis, and its potential overlap with systemic sclerosis (SSc) remains a matter of debate. Here, we aimed to characterize the clinical, histopathological, and molecular features of BCIM in a large multicenter cohort and assess whether BCIM constitutes a distinct entity within the IIM 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