{"entity": "researcher", "timestamp": "2026-09-23T15:19:38.291Z", "family": "Enocsson", "given": "H", "initials": "H", "orcid": "0000-0002-2125-2931", "affiliations": ["Rheumatology/Division of Neuro and Inflammation Sciences, Department of Clinical and Experimental Medicine, Link\u00f6ping University, Link\u00f6ping, Sweden."], "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/researcher/174462ef4f7c4f6381aa2fd4cc29569d.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/researcher/174462ef4f7c4f6381aa2fd4cc29569d"}}, "publications": [{"entity": "publication", "iuid": "f8942a7836cc47c9ac266895832ee8f9", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/f8942a7836cc47c9ac266895832ee8f9.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/f8942a7836cc47c9ac266895832ee8f9"}}, "title": "Unraveling the Genetics of Shared Clinical and Serological Manifestations in Patients With Systemic Inflammatory Autoimmune Diseases.", "authors": [{"family": "Bianchi", "given": "Matteo", "initials": "M", "orcid": "0000-0003-3394-6495", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/3183e335a393486f8b6534db17b066d0.json"}}, {"family": "Kozyrev", "given": "Sergey V", "initials": "SV", "orcid": "0000-0001-6209-4100", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/cef7ddc40d8f47468f3f3dec3caa5de3.json"}}, {"family": "Notarnicola", "given": "Antonella", "initials": "A", "orcid": "0000-0003-0272-2931", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/708cd9cafb384ed29732f2c5fb1a17bd.json"}}, {"family": "Sandling", "given": "Johanna K", "initials": "JK"}, {"family": "Pettersson", "given": "Mats", "initials": "M"}, {"family": "Leonard", "given": "Dag", "initials": "D"}, {"family": "Sj\u00f6wall", "given": "Christopher", "initials": "C", "orcid": "0000-0003-0900-2048", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a9fcc24622ec440bac6996072cceea0e.json"}}, {"family": "Gunnarsson", "given": "Iva", "initials": "I"}, {"family": "Rantap\u00e4\u00e4-Dahlqvist", "given": "Solbritt", "initials": "S", "orcid": "0000-0001-8259-3863", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/1c8c4d669b3942309a148980c1437b5d.json"}}, {"family": "Bengtsson", "given": "Anders A", "initials": "AA"}, {"family": "J\u00f6nsen", "given": "Andreas", "initials": "A"}, {"family": "Svenungsson", "given": "Elisabet", "initials": "E", "orcid": "0000-0003-3396-3244", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2c44ebd4f33e46a1862877bce94be05b.json"}}, {"family": "Enocsson", "given": "Helena", "initials": "H", "orcid": "0000-0002-2125-2931", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/174462ef4f7c4f6381aa2fd4cc29569d.json"}}, {"family": "Kvarnstr\u00f6m", "given": "Marika", "initials": "M"}, {"family": "Forsblad-d'Elia", "given": "Helena", "initials": "H"}, {"family": "Bucher", "given": "Sara Magnusson", "initials": "SM"}, {"family": "Norheim", "given": "Katrine B", "initials": "KB"}, {"family": "Baecklund", "given": "Eva", "initials": "E"}, {"family": "Jonsson", "given": "Roland", "initials": "R"}, {"family": "Hammenfors", "given": "Daniel", "initials": "D"}, {"family": "Eriksson", "given": "Per", "initials": "P"}, {"family": "Mandl", "given": "Thomas", "initials": "T"}, {"family": "Omdal", "given": "Roald", "initials": "R"}, {"family": "Padyukov", "given": "Leonid", "initials": "L"}, {"family": "Andersson", "given": "Helena", "initials": "H"}, {"family": "Molberg", "given": "\u00d8yvind", "initials": "\u00d8"}, {"family": "Diederichsen", "given": "Louise Pyndt", "initials": "LP"}, {"family": "Syv\u00e4nen", "given": "Ann-Christine", "initials": "AC"}, {"family": "Wahren-Herlenius", "given": "Marie", "initials": "M", "orcid": "0000-0002-0915-7245", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/0db5190dbe894a5e9cd961e66ba5c75d.json"}}, {"family": "Nordmark", "given": "Gunnel", "initials": "G", "orcid": "0000-0002-3829-7431", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/f618934952594d76a747bcbe2c27bbf2.json"}}, {"family": "Lundberg", "given": "Ingrid E", "initials": "IE", "orcid": "0000-0002-6068-9212", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a2891140c49d446dbd82c96857bcde73.json"}}, {"family": "R\u00f6nnblom", "given": "Lars", "initials": "L"}, {"family": "Lindblad-Toh", "given": "Kerstin", "initials": "K"}, {"family": "with the DISSECT consortium and the ImmunoArray consortium", "given": "", "initials": ""}], "type": "journal article", "published": "2025-02-00", "journal": {"title": "Arthritis & rheumatology (Hoboken, N.J.)", "issn": "2326-5205", "volume": "77", "issue": "2", "pages": "212-225", "issn-l": "2326-5191"}, "abstract": "Systemic inflammatory autoimmune diseases (SIADs) such as systemic lupus erythematosus (SLE), primary Sj\u00f6gren disease (pSS), and idiopathic inflammatory myopathies (myositis) are complex conditions characterized by shared circulating autoantibodies and clinical manifestations, including skin rashes, among others. This study was aimed at elucidating the genetics underlying these common features.\n\nWe performed targeted DNA sequencing of coding and regulatory regions from approximately 1,900 immune-related genes in a large cohort of 2,292 well-characterized Scandinavian patients with SIADs with SLE, pSS, and myositis as well as 1,252 controls. A gene-based functionally weighted genetic score for aggregate testing of all genetic variants, including rare variants, was complemented by in silico functional analyses and in vitro reporter experiments.\n\nCase-control association analysis detected known and potentially novel genetic loci in agreement with previous genetic and transcriptomics findings linked to the SIAD autoimmune background. Intriguingly, case-case comparisons between patient subgroups with and without specific autoantibodies revealed that the subgroups defined by antinuclear antibodies and anti-double-stranded DNA antibodies have unique genetic profiles reflecting their heterogeneity. When focusing on clinical features, we overall showed that dual-specificity phosphatase 1 (DUSP1) protective genetic variants lead to increased gene expression and potentially to anti-inflammatory effects on the SIAD-associated skin phenotype. This is consistent with recent genetic findings on eczema and with the previously reported down-regulation of the MAPK signaling-related gene DUSP1 in other skin disorders.\n\nTogether, this suggests common molecular mechanisms potentially underlying overlapping clinical manifestations shared among different disorders and informs clinical heterogeneity, which could be translated to improve disease diagnostic and treatment, also in more generalized disease frameworks.", "doi": "10.1002/art.42988", "pmid": "39284741", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC11782108"}], "notes": [], "created": "2026-09-23T12:19:32.987Z", "modified": "2026-09-23T12:19:33.106Z"}, {"entity": "publication", "iuid": "e361b0eaae0c45a88092509d880e9d4a", "links": {"self": {"href": "https://publications-affiliated.scilifelab.se/publication/e361b0eaae0c45a88092509d880e9d4a.json"}, "display": {"href": "https://publications-affiliated.scilifelab.se/publication/e361b0eaae0c45a88092509d880e9d4a"}}, "title": "Interferon-\u03b1 coincides with suppressed levels of pentraxin-3 (PTX3) in systemic lupus erythematosus and regulates leucocyte PTX3 in vitro.", "authors": [{"family": "Wirestam", "given": "L", "initials": "L", "orcid": "0000-0003-3687-8344", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b35d11bce7db4ce787a8228f056aca50.json"}}, {"family": "Enocsson", "given": "H", "initials": "H", "orcid": "0000-0002-2125-2931", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/174462ef4f7c4f6381aa2fd4cc29569d.json"}}, {"family": "Skogh", "given": "T", "initials": "T", "orcid": "0000-0002-0153-9249", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/84674ffa536c4a1f8a701fa25e905d5f.json"}}, {"family": "Eloranta", "given": "M L", "initials": "ML", "orcid": "0000-0002-8454-1351", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/e73543dcfc754a96a6102a948e961a43.json"}}, {"family": "R\u00f6nnblom", "given": "L", "initials": "L", "orcid": "0000-0001-9403-6503", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/5f7ec7a7befd44cc988091ba0858d3c0.json"}}, {"family": "Sj\u00f6wall", "given": "C", "initials": "C", "orcid": "0000-0003-0900-2048", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/a9fcc24622ec440bac6996072cceea0e.json"}}, {"family": "Wetter\u00f6", "given": "J", "initials": "J", "orcid": "0000-0002-6916-5490", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/b0b6222e1f124564a5a5a0ec7d63a571.json"}}], "type": "journal article", "published": "2017-07-00", "journal": {"title": "Clin. Exp. Immunol.", "issn": "1365-2249", "volume": "189", "issue": "1", "pages": "83-91", "issn-l": "0009-9104"}, "abstract": "Dysfunctional elimination of cell debris, and the role of opsonins such as pentraxins, is of interest regarding systemic lupus erythematosus (SLE) pathogenesis. Interferon (IFN)-\u03b1 is typically elevated during SLE flares, and inhibits hepatocyte production of the pentraxin 'C-reactive protein' (CRP), partly explaining the poor correlation between CRP levels and SLE disease activity. The extrahepatically produced 'pentraxin 3' (PTX3) shares waste disposal functions with CRP, but has not been studied extensively in SLE. We analysed serum PTX3 in SLE, and assessed its interference with IFN-\u03b1 in vitro. Serum samples from 243 patients with SLE and 100 blood donors were analysed regarding PTX3. Patient sera were analysed for IFN-\u03b1, and genotyped for three PTX3 single nucleotide polymorphisms reported previously to associate with PTX3 levels. Stimulated PTX3 release was assessed in the presence or absence of IFN-\u03b1 in blood donor neutrophils and peripheral blood mononuclear cells (PBMC). Serum PTX3 was 44% lower in patients with SLE compared to blood donors (P < 0\u00b70001) and correlated with leucocyte variables. Patients with undetectable IFN-\u03b1 had 29% higher median PTX3 level than patients with detectable IFN-\u03b1 (P = 0\u00b701). PTX3 production by PBMC was inhibited by IFN-\u03b1, whereas neutrophil degranulation of PTX3 was increased. No differences in PTX3 levels were observed between the SNPs. In conclusion, median serum PTX3 is lower in SLE (especially when IFN-\u03b1 is detectable) compared to blood donors. In addition to its potential consumption during waste disposal, it is plausible that IFN-\u03b1 also attenuates PTX3 by inhibiting synthesis by PBMC and/or exhausting PTX3 storage in neutrophil granules.", "doi": "10.1111/cei.12957", "pmid": "28257596", "labels": [], "xrefs": [{"db": "pmc", "key": "PMC5461103"}], "notes": [], "created": "2018-12-05T12:59:22.027Z", "modified": "2026-09-23T11:48:48.495Z"}]}