{"entity": "researcher", "timestamp": "2026-08-09T07:36:13.652Z", "family": "Ekwall", "given": "Olov", "initials": "O", "orcid": "0000-0002-4506-9955", "affiliations": ["Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.", "Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden."], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/2d7af11d7d30410d8fe5f3b5fbd0ba1d.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/2d7af11d7d30410d8fe5f3b5fbd0ba1d"}}, "publications": [{"entity": "publication", "iuid": "7efe68cb12144989aaa7d3311aa2b137", "links": {"self": {"href": "https://publications.scilifelab.se/publication/7efe68cb12144989aaa7d3311aa2b137.json"}, "display": {"href": "https://publications.scilifelab.se/publication/7efe68cb12144989aaa7d3311aa2b137"}}, "title": "A landscape of X-inactivation during human T cell development.", "authors": [{"family": "Gylemo", "given": "Bj\u00f6rn", "initials": "B", "orcid": "0000-0001-5253-6737", "researcher": {"href": "https://publications.scilifelab.se/researcher/1e62e3eed2144dd0a2584a3cfbe7800a.json"}}, {"family": "Bensberg", "given": "Maike", "initials": "M", "orcid": "0000-0003-2395-6083", "researcher": {"href": "https://publications.scilifelab.se/researcher/afa6aec5136e46fd97981fa37b8c8295.json"}}, {"family": "Hennings", "given": "Viktoria", "initials": "V"}, {"family": "Lundqvist", "given": "Christina", "initials": "C", "orcid": "0000-0002-2256-4072", "researcher": {"href": "https://publications.scilifelab.se/researcher/10b339e6cc1f48f3a5f736201038ee59.json"}}, {"family": "Camponeschi", "given": "Alessandro", "initials": "A", "orcid": "0000-0002-6472-2438", "researcher": {"href": "https://publications.scilifelab.se/researcher/ccbaffafd6a24f4abed1e402219fa472.json"}}, {"family": "Goldmann", "given": "D\u00f3ra", "initials": "D"}, {"family": "Zhang", "given": "Huan", "initials": "H"}, {"family": "Selimovi\u0107-Pa\u0161i\u0107", "given": "Aida", "initials": "A"}, {"family": "Lentini", "given": "Antonio", "initials": "A", "orcid": "0000-0003-1239-5495", "researcher": {"href": "https://publications.scilifelab.se/researcher/e282901d24c64b16a540eff0d57776f4.json"}}, {"family": "Ekwall", "given": "Olov", "initials": "O", "orcid": "0000-0002-4506-9955", "researcher": {"href": "https://publications.scilifelab.se/researcher/2d7af11d7d30410d8fe5f3b5fbd0ba1d.json"}}, {"family": "Nestor", "given": "Colm E", "initials": "CE", "orcid": "0000-0001-5853-1769", "researcher": {"href": "https://publications.scilifelab.se/researcher/ca9fb12cf5754f36baf12f96f563ddb4.json"}}], "type": "journal article", "published": "2024-12-04", "journal": {"title": "Nat Commun", "issn": "2041-1723", "volume": "15", "issue": "1", "pages": "10527", "issn-l": "2041-1723"}, "abstract": "Females exhibit a more robust immune response to both self-antigens and non-self-antigens than males, resulting in a higher prevalence of autoimmune diseases but more effective responses against infection. Increased expression of X-linked immune genes in female T cells is thought to underlie this enhanced response. Here we isolate thymocytes from pediatric thymi of healthy males (46, XY), females (46, XX), a female with completely skewed X-chromosome inactivation (46, XX, cXCI) and a female with Turner syndrome (45, X0). Using whole exome sequencing, RNA sequencing and DNA methylation data, we present a sex-aware expression profile of T cell development and generate a high-resolution map of escape from X-chromosome inactivation (XCI). Unexpectedly, XCI is transcriptionally and epigenetically stable throughout T cell development, and is independent of expression of XIST, the lncRNA responsible for XCI initiation during early embryonic development. In thymocytes, several genes known to escape XCI are expressed from only one X-chromosome. Additionally, we further reveal that a second X-chromosome is dispensable for T cell development. Our study thus provides a high-resolution map of XCI during human development and suggests a re-evaluation of XCI in sex differences in T cell function.", "doi": "10.1038/s41467-024-54110-7", "pmid": "39632794", "labels": {"Clinical Genomics Link\u00f6ping": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC11618795"}, {"db": "pii", "key": "10.1038/s41467-024-54110-7"}], "notes": [], "created": "2024-12-10T08:39:23.208Z", "modified": "2024-12-10T08:39:23.536Z"}, {"entity": "publication", "iuid": "c387fb518b4a4cbfa7a96172dc66cda2", "links": {"self": {"href": "https://publications.scilifelab.se/publication/c387fb518b4a4cbfa7a96172dc66cda2.json"}, "display": {"href": "https://publications.scilifelab.se/publication/c387fb518b4a4cbfa7a96172dc66cda2"}}, "title": "Human CD38 regulates B cell antigen receptor dynamic organization in normal and malignant B cells.", "authors": [{"family": "Camponeschi", "given": "Alessandro", "initials": "A", "orcid": "0000-0002-6472-2438", "researcher": {"href": "https://publications.scilifelab.se/researcher/ccbaffafd6a24f4abed1e402219fa472.json"}}, {"family": "Kl\u00e4sener", "given": "Kathrin", "initials": "K", "orcid": "0000-0002-5969-2553", "researcher": {"href": "https://publications.scilifelab.se/researcher/1a46292d2b6d4a46897e5b2fdcbaea25.json"}}, {"family": "Sundell", "given": "Timothy", "initials": "T", "orcid": "0000-0001-6244-1790", "researcher": {"href": "https://publications.scilifelab.se/researcher/b856449e4da74c9b913751835d0fdc50.json"}}, {"family": "Lundqvist", "given": "Christina", "initials": "C", "orcid": "0000-0002-2256-4072", "researcher": {"href": "https://publications.scilifelab.se/researcher/10b339e6cc1f48f3a5f736201038ee59.json"}}, {"family": "Manna", "given": "Paul T", "initials": "PT", "orcid": "0000-0002-2260-2075", "researcher": {"href": "https://publications.scilifelab.se/researcher/ad6605820c294d408293b5a3cc6fdcdc.json"}}, {"family": "Ayoubzadeh", "given": "Negar", "initials": "N", "orcid": "0000-0002-9562-1947", "researcher": {"href": "https://publications.scilifelab.se/researcher/5a5abf127036470a8e62917ece7cfc1b.json"}}, {"family": "Sundqvist", "given": "Martina", "initials": "M", "orcid": "0000-0002-0859-0792", "researcher": {"href": "https://publications.scilifelab.se/researcher/24e6273caf214eab9f4c7c4c8f20a186.json"}}, {"family": "Thorarinsdottir", "given": "Katrin", "initials": "K", "orcid": "0000-0003-2708-1990", "researcher": {"href": "https://publications.scilifelab.se/researcher/dcabbfe494e84a948ef32d94b13fd795.json"}}, {"family": "Gatto", "given": "Mariele", "initials": "M", "orcid": "0000-0003-4012-1248", "researcher": {"href": "https://publications.scilifelab.se/researcher/89af57d620344ca58a1e20c889075002.json"}}, {"family": "Visentini", "given": "Marcella", "initials": "M", "orcid": "0000-0002-4053-6091", "researcher": {"href": "https://publications.scilifelab.se/researcher/d5f4c67ea260466f870cce36476ebf0b.json"}}, {"family": "\u00d6nnheim", "given": "Karin", "initials": "K", "orcid": "0000-0001-5415-6842", "researcher": {"href": "https://publications.scilifelab.se/researcher/e91d446634074987a47b6d0451f33010.json"}}, {"family": "Aranburu", "given": "Alaitz", "initials": "A", "orcid": "0000-0002-7024-7733", "researcher": {"href": "https://publications.scilifelab.se/researcher/41cd21f636e340af93fb3bb0544b158b.json"}}, {"family": "Forsman", "given": "Huamei", "initials": "H", "orcid": "0000-0002-8781-284X", "researcher": {"href": "https://publications.scilifelab.se/researcher/d47631a564bc43f8b37f31adc1aaa043.json"}}, {"family": "Ekwall", "given": "Olov", "initials": "O", "orcid": "0000-0002-4506-9955", "researcher": {"href": "https://publications.scilifelab.se/researcher/2d7af11d7d30410d8fe5f3b5fbd0ba1d.json"}}, {"family": "Fogelstrand", "given": "Linda", "initials": "L", "orcid": "0000-0003-3698-8519", "researcher": {"href": "https://publications.scilifelab.se/researcher/f39ff709aa0646b8ad5e520780a0ad49.json"}}, {"family": "Gjertsson", "given": "Inger", "initials": "I", "orcid": "0000-0002-9301-4844", "researcher": {"href": "https://publications.scilifelab.se/researcher/56e95592e89f43cba8eb30bd32da1cc8.json"}}, {"family": "Reth", "given": "Michael", "initials": "M", "orcid": "0000-0002-1025-7198", "researcher": {"href": "https://publications.scilifelab.se/researcher/e9c45a119af24ccdb30c04ceff46ceaf.json"}}, {"family": "M\u00e5rtensson", "given": "Inga-Lill", "initials": "IL", "orcid": "0000-0003-3415-0560", "researcher": {"href": "https://publications.scilifelab.se/researcher/c4f5cf8b693a4915b71a58e700768d6f.json"}}], "type": "journal article", "published": "2022-09-05", "journal": {"title": "J. Exp. Med.", "issn": "1540-9538", "volume": "219", "issue": "9", "issn-l": "0022-1007"}, "abstract": "CD38 is a multifunctional protein expressed on the surface of B cells in healthy individuals but also in B cell malignancies. Previous studies have suggested a connection between CD38 and components of the IgM class B cell antigen receptor (IgM-BCR) and its coreceptor complex. Here, we provide evidence that CD38 is closely associated with CD19 in resting B cells and with the IgM-BCR upon engagement. We show that targeting CD38 with an antibody, or removing this molecule with CRISPR/Cas9, inhibits the association of CD19 with the IgM-BCR, impairing BCR signaling in normal and malignant B cells. Together, our data suggest that CD38 is a new member of the BCR coreceptor complex, where it exerts a modulatory effect on B cell activation upon antigen recognition by regulating CD19. Our study also reveals a new mechanism where \u03b1-CD38 antibodies could be a valuable option in therapeutic approaches to B cell malignancies driven by aberrant BCR signaling.", "doi": "10.1084/jem.20220201", "pmid": "35819358", "labels": {"Glycoproteomics and MS Proteomics": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC9280193"}, {"db": "pii", "key": "213348"}], "notes": [], "created": "2023-03-07T14:34:14.812Z", "modified": "2024-01-16T13:46:28.455Z"}, {"entity": "publication", "iuid": "60bd85765d1d41e8a85dc1c7ff43bbfc", "links": {"self": {"href": "https://publications.scilifelab.se/publication/60bd85765d1d41e8a85dc1c7ff43bbfc.json"}, "display": {"href": "https://publications.scilifelab.se/publication/60bd85765d1d41e8a85dc1c7ff43bbfc"}}, "title": "Long-Term Follow-Up of Newborns with 22q11 Deletion Syndrome and Low TRECs", "authors": [{"family": "Framme", "given": "Jenny Lingman", "initials": "JL", "orcid": "0000-0001-5665-1927", "researcher": {"href": "https://publications.scilifelab.se/researcher/adf94743f00c47fa98def118f68b791a.json"}}, {"family": "Lundqvist", "given": "Christina", "initials": "C", "orcid": "0000-0002-2256-4072", "researcher": {"href": "https://publications.scilifelab.se/researcher/10b339e6cc1f48f3a5f736201038ee59.json"}}, {"family": "Lundell", "given": "Anna Carin", "initials": "AC"}, {"family": "van Schouwenburg", "given": "Pauline A", "initials": "PA"}, {"family": "Lemarquis", "given": "Andri L", "initials": "AL", "orcid": "0000-0001-5165-0247", "researcher": {"href": "https://publications.scilifelab.se/researcher/776e9a2ecebf446ba4d0e3d20c8d793c.json"}}, {"family": "Th\u00f6rn", "given": "Karolina", "initials": "K"}, {"family": "Lindgren", "given": "Susanne", "initials": "S"}, {"family": "Gudmundsdottir", "given": "Judith", "initials": "J", "orcid": "0000-0002-4500-4078", "researcher": {"href": "https://publications.scilifelab.se/researcher/cd10ee75400d497a8d1c5b9ac7fccdc7.json"}}, {"family": "Lundberg", "given": "Vanja", "initials": "V"}, {"family": "Degerman", "given": "Sofie", "initials": "S", "orcid": "0000-0002-2783-0712", "researcher": {"href": "https://publications.scilifelab.se/researcher/8611162e883645f59195c4221199967f.json"}}, {"family": "Zetterstr\u00f6m", "given": "Rolf H", "initials": "RH"}, {"family": "Borte", "given": "Stephan", "initials": "S"}, {"family": "Hammarstr\u00f6m", "given": "Lennart", "initials": "L", "orcid": "0000-0002-8635-9609", "researcher": {"href": "https://publications.scilifelab.se/researcher/542d61d71652421f8dda0f0154fe063b.json"}}, {"family": "Telemo", "given": "Esbj\u00f6rn", "initials": "E"}, {"family": "Hultdin", "given": "Magnus", "initials": "M"}, {"family": "van der Burg", "given": "Mirjam", "initials": "M"}, {"family": "Fasth", "given": "Anders", "initials": "A", "orcid": "0000-0002-0033-740X", "researcher": {"href": "https://publications.scilifelab.se/researcher/57576e445b0844f287e58d868dd22574.json"}}, {"family": "Oskarsd\u00f3ttir", "given": "S\u00f3lveig", "initials": "S"}, {"family": "Ekwall", "given": "Olov", "initials": "O", "orcid": "0000-0002-4506-9955", "researcher": {"href": "https://publications.scilifelab.se/researcher/2d7af11d7d30410d8fe5f3b5fbd0ba1d.json"}}], "type": "journal-article", "published": "2022-04-00", "journal": {"title": "J Clin Immunol", "issn": "0271-9142", "volume": "42", "issue": "3", "pages": "618-633", "issn-l": null}, "abstract": "Population-based neonatal screening using T-cell receptor excision circles (TRECs) identifies infants with profound T lymphopenia, as seen in cases of severe combined immunodeficiency, and in a subgroup of infants with 22q11 deletion syndrome (22q11DS).\n\nTo investigate the long-term prognostic value of low levels of TRECs in newborns with 22q11DS.\n\nSubjects with 22q11DS and low TRECs at birth (22q11Low, N=10), matched subjects with 22q11DS and normal TRECs (22q11Normal, N=10), and matched healthy controls (HC, N=10) were identified. At follow-up (median age 16 years), clinical and immunological characterizations, covering lymphocyte subsets, immunoglobulins, TRECs, T-cell receptor repertoires, and relative telomere length (RTL) measurements were performed.\n\nAt follow-up, the 22q11Low group had lower numbers of na\u00efve T-helper cells, na\u00efve T-regulatory cells, na\u00efve cytotoxic T cells, and persistently lower TRECs compared to healthy controls. Receptor repertoires showed skewed V-gene usage for na\u00efve T-helper cells, whereas for na\u00efve cytotoxic T cells, shorter RTL and a trend towards higher clonality were found. Multivariate discriminant analysis revealed a clear distinction between the three groups and a skewing towards Th17 differentiation of T-helper cells, particularly in the 22q11Low individuals. Perturbations of B-cell subsets were found in both the 22q11Low and 22q11Normal group compared to the HC group, with larger proportions of na\u00efve B cells and lower levels of memory B cells, including switched memory B cells.\n\nThis long-term follow-up study shows that 22q11Low individuals have persistent immunologic aberrations and increased risk for immune dysregulation, indicating the necessity of lifelong monitoring.\n\nThis study elucidates the natural history of childhood immune function in newborns with 22q11DS and low TRECs, which may facilitate the development of programs for long-term monitoring and therapeutic choices.", "doi": "10.1007/s10875-021-01201-5", "pmid": "35080750", "labels": {"Clinical Genomics Ume\u00e5": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC9016018"}, {"db": "pii", "key": "10.1007/s10875-021-01201-5"}], "notes": [], "created": "2022-12-05T11:19:16.118Z", "modified": "2023-06-19T11:54:31.135Z"}, {"entity": "publication", "iuid": "e430feac4bdd43b18fefd962d8122973", "links": {"self": {"href": "https://publications.scilifelab.se/publication/e430feac4bdd43b18fefd962d8122973.json"}, "display": {"href": "https://publications.scilifelab.se/publication/e430feac4bdd43b18fefd962d8122973"}}, "title": "Severe COVID-19 in an APS1 patient with interferon autoantibodies treated with plasmapheresis", "authors": [{"family": "Lemarquis", "given": "Andri", "initials": "A", "orcid": "0000-0001-5165-0247", "researcher": {"href": "https://publications.scilifelab.se/researcher/776e9a2ecebf446ba4d0e3d20c8d793c.json"}}, {"family": "Campbell", "given": "Tessa", "initials": "T", "orcid": "0000-0002-7737-2123", "researcher": {"href": "https://publications.scilifelab.se/researcher/649b3cbdbb894026ba87a79e6834e651.json"}}, {"family": "Aranda-Guill\u00e9n", "given": "Maribel", "initials": "M", "orcid": "0000-0003-0050-704X", "researcher": {"href": "https://publications.scilifelab.se/researcher/65dc88b917274bc595daed855b63abab.json"}}, {"family": "Hennings", "given": "Viktoria", "initials": "V"}, {"family": "Brodin", "given": "Petter", "initials": "P", "orcid": "0000-0002-8103-0046", "researcher": {"href": "https://publications.scilifelab.se/researcher/40097353cdb24e52bf2330eb687042bf.json"}}, {"family": "K\u00e4mpe", "given": "Olle", "initials": "O", "orcid": "0000-0001-6091-9914", "researcher": {"href": "https://publications.scilifelab.se/researcher/2c547dc809a14cdaa47b623cf638162b.json"}}, {"family": "Blennow", "given": "Kaj", "initials": "K", "orcid": "0000-0002-1890-4193", "researcher": {"href": "https://publications.scilifelab.se/researcher/5e646be026ce42ecbfd4d62eca3f9bce.json"}}, {"family": "Zetterberg", "given": "Henrik", "initials": "H", "orcid": "0000-0003-3930-4354", "researcher": {"href": "https://publications.scilifelab.se/researcher/85efee74eb4a4b38b63cf2823d204529.json"}}, {"family": "Wenner\u00e5s", "given": "Christine", "initials": "C"}, {"family": "Eriksson", "given": "Kristina", "initials": "K"}, {"family": "Landegren", "given": "Nils", "initials": "N", "orcid": "0000-0002-6163-9540", "researcher": {"href": "https://publications.scilifelab.se/researcher/13ceacb17b7448709f9bfcd593bec1e2.json"}}, {"family": "Bryceson", "given": "Yenan", "initials": "Y", "orcid": "0000-0002-7783-9934", "researcher": {"href": "https://publications.scilifelab.se/researcher/ce63349a03924444836215ffd201d2e3.json"}}, {"family": "Berg", "given": "Stefan", "initials": "S"}, {"family": "Ekwall", "given": "Olov", "initials": "O", "orcid": "0000-0002-4506-9955", "researcher": {"href": "https://publications.scilifelab.se/researcher/2d7af11d7d30410d8fe5f3b5fbd0ba1d.json"}}], "type": "journal-article", "published": "2021-07-00", "journal": {"title": "Journal of Allergy and Clinical Immunology", "issn": "1085-8725", "volume": "148", "issue": "1", "pages": "96-98", "issn-l": "0091-6749"}, "abstract": null, "doi": "10.1016/j.jaci.2021.03.034", "pmid": "33892926", "labels": {"Autoimmunity and Serology Profiling": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC8051851"}, {"db": "pii", "key": "S0091-6749(21)00556-X"}], "notes": [], "created": "2022-11-10T22:49:31.895Z", "modified": "2023-06-19T11:52:47.010Z"}, {"entity": "publication", "iuid": "4f215604012947b6b889fbcd7ced04a3", "links": {"self": {"href": "https://publications.scilifelab.se/publication/4f215604012947b6b889fbcd7ced04a3.json"}, "display": {"href": "https://publications.scilifelab.se/publication/4f215604012947b6b889fbcd7ced04a3"}}, "title": "GWAS for autoimmune Addison's disease identifies multiple risk loci and highlights AIRE in disease susceptibility.", "authors": [{"family": "Eriksson", "given": "Daniel", "initials": "D", "orcid": "0000-0001-5473-3312", "researcher": {"href": "https://publications.scilifelab.se/researcher/f9c26578a5e548f783b9465e04fb0bfc.json"}}, {"family": "R\u00f8yrvik", "given": "Ellen Christine", "initials": "EC", "orcid": "0000-0002-8979-1704", "researcher": {"href": "https://publications.scilifelab.se/researcher/cd868b2b958946959cb0e7e7b5af9da7.json"}}, {"family": "Aranda-Guill\u00e9n", "given": "Maribel", "initials": "M", "orcid": "0000-0003-0050-704X", "researcher": {"href": "https://publications.scilifelab.se/researcher/65dc88b917274bc595daed855b63abab.json"}}, {"family": "Berger", "given": "Amund Holte", "initials": "AH", "orcid": "0000-0001-6973-2048", "researcher": {"href": "https://publications.scilifelab.se/researcher/af8b1a7f74804ed19a47492d9ae516ef.json"}}, {"family": "Landegren", "given": "Nils", "initials": "N"}, {"family": "Artaza", "given": "Haydee", "initials": "H", "orcid": "0000-0002-1585-5488", "researcher": {"href": "https://publications.scilifelab.se/researcher/25707fcf0fa84ca78541e70e4ff1eca2.json"}}, {"family": "Hallgren", "given": "\u00c5sa", "initials": "\u00c5"}, {"family": "Grytaas", "given": "Marianne Aardal", "initials": "MA", "orcid": "0000-0001-9016-628X", "researcher": {"href": "https://publications.scilifelab.se/researcher/b6b1dce0512245619e56be4ecd5de8eb.json"}}, {"family": "Str\u00f6m", "given": "Sara", "initials": "S"}, {"family": "Bratland", "given": "Eirik", "initials": "E"}, {"family": "Botusan", "given": "Ileana Ruxandra", "initials": "IR"}, {"family": "Oftedal", "given": "Bergithe Eikeland", "initials": "BE"}, {"family": "Breivik", "given": "Lars", "initials": "L", "orcid": "0000-0003-2889-7342", "researcher": {"href": "https://publications.scilifelab.se/researcher/8098f538b89d4073b79a3e60eae48b7c.json"}}, {"family": "Vaudel", "given": "Marc", "initials": "M", "orcid": "0000-0003-1179-9578", "researcher": {"href": "https://publications.scilifelab.se/researcher/920056fb632147559a0d9e3f49c6bdbd.json"}}, {"family": "Helgeland", "given": "\u00d8yvind", "initials": "\u00d8", "orcid": "0000-0002-5612-2985", "researcher": {"href": "https://publications.scilifelab.se/researcher/4f27653f5bc6491a88d4336f1b442d3a.json"}}, {"family": "Falorni", "given": "Alberto", "initials": "A"}, {"family": "J\u00f8rgensen", "given": "Anders Palmstr\u00f8m", "initials": "AP", "orcid": "0000-0002-1246-9194", "researcher": {"href": "https://publications.scilifelab.se/researcher/d6e34e97e0e4400f939e3662b19a4075.json"}}, {"family": "Hulting", "given": "Anna-Lena", "initials": "AL"}, {"family": "Svartberg", "given": "Johan", "initials": "J"}, {"family": "Ekwall", "given": "Olov", "initials": "O", "orcid": "0000-0002-4506-9955", "researcher": {"href": "https://publications.scilifelab.se/researcher/2d7af11d7d30410d8fe5f3b5fbd0ba1d.json"}}, {"family": "Fougner", "given": "Kristian Johan", "initials": "KJ"}, {"family": "Wahlberg", "given": "Jeanette", "initials": "J"}, {"family": "Nedreb\u00f8", "given": "Bj\u00f8rn Gunnar", "initials": "BG"}, {"family": "Dahlqvist", "given": "Per", "initials": "P", "orcid": "0000-0002-6471-9503", "researcher": {"href": "https://publications.scilifelab.se/researcher/3577b15f446643499c52143174a5e15b.json"}}, {"family": "Norwegian Addison Registry Study Group", "given": "", "initials": ""}, {"family": "Swedish Addison Registry Study Group", "given": "", "initials": ""}, {"family": "Knappskog", "given": "Per Morten", "initials": "PM"}, {"family": "Wolff", "given": "Anette Susanne B\u00f8e", "initials": "ASB"}, {"family": "Bensing", "given": "Sophie", "initials": "S", "orcid": "0000-0002-9193-2860", "researcher": {"href": "https://publications.scilifelab.se/researcher/acae2ad8ca844588b2b850c863034b7b.json"}}, {"family": "Johansson", "given": "Stefan", "initials": "S", "orcid": "0000-0002-2298-7008", "researcher": {"href": "https://publications.scilifelab.se/researcher/1b957ea589b342fb9def8ce13ef3bd7e.json"}}, {"family": "K\u00e4mpe", "given": "Olle", "initials": "O", "orcid": "0000-0001-6091-9914", "researcher": {"href": "https://publications.scilifelab.se/researcher/2c547dc809a14cdaa47b623cf638162b.json"}}, {"family": "Husebye", "given": "Eystein Sverre", "initials": "ES", "orcid": "0000-0002-7886-2976", "researcher": {"href": "https://publications.scilifelab.se/researcher/370273203e0e4734ac49a209ae066ac2.json"}}], "type": "journal article", "published": "2021-02-11", "journal": {"title": "Nat Commun", "issn": "2041-1723", "volume": "12", "issue": "1", "pages": "959", "issn-l": "2041-1723"}, "abstract": "Autoimmune Addison's disease (AAD) is characterized by the autoimmune destruction of the adrenal cortex. Low prevalence and complex inheritance have long hindered successful genetic studies. We here report the first genome-wide association study on AAD, which identifies nine independent risk loci (P < 5 \u00d7 10-8). In addition to loci implicated in lymphocyte function and development shared with other autoimmune diseases such as HLA, BACH2, PTPN22 and CTLA4, we associate two protein-coding alterations in Autoimmune Regulator (AIRE) with AAD. The strongest, p.R471C (rs74203920, OR = 3.4 (2.7-4.3), P = 9.0 \u00d7 10-25) introduces an additional cysteine residue in the zinc-finger motif of the second PHD domain of the AIRE protein. This unbiased elucidation of the genetic contribution to development of AAD points to the importance of central immunological tolerance, and explains 35-41% of heritability (h2).", "doi": "10.1038/s41467-021-21015-8", "pmid": "33574239", "labels": {"Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41467-021-21015-8"}, {"db": "pmc", "key": "PMC7878795"}], "notes": [], "created": "2022-11-09T15:43:58.467Z", "modified": "2024-01-16T13:48:40.734Z"}, {"entity": "publication", "iuid": "f125e73101d940caba08bd49d0ba39d9", "links": {"self": {"href": "https://publications.scilifelab.se/publication/f125e73101d940caba08bd49d0ba39d9.json"}, "display": {"href": "https://publications.scilifelab.se/publication/f125e73101d940caba08bd49d0ba39d9"}}, "title": "Eleven percent intact PGM3 in a severely immunodeficient patient with a novel splice-site mutation, a case report", "authors": [{"family": "Lundin", "given": "Karin E", "initials": "KE", "orcid": "0000-0002-1489-3028", "researcher": {"href": "https://publications.scilifelab.se/researcher/84ba7b3018604f2a8c63927f163bd527.json"}}, {"family": "Wang", "given": "Qing", "initials": "Q"}, {"family": "Hamasy", "given": "Abdulrahman", "initials": "A"}, {"family": "Marits", "given": "Per", "initials": "P", "orcid": "0000-0003-2439-5687", "researcher": {"href": "https://publications.scilifelab.se/researcher/b05d944415ab42bca1b696262176dfc0.json"}}, {"family": "Uzunel", "given": "Mehmet", "initials": "M"}, {"family": "Wirta", "given": "Valtteri", "initials": "V", "orcid": "0000-0003-3811-5439", "researcher": {"href": "https://publications.scilifelab.se/researcher/cba024b2e3c347f6b981922d984ad2d6.json"}}, {"family": "Wikstr\u00f6m", "given": "Ann Charlotte", "initials": "AC"}, {"family": "Fasth", "given": "Anders", "initials": "A", "orcid": "0000-0002-0033-740X", "researcher": {"href": "https://publications.scilifelab.se/researcher/57576e445b0844f287e58d868dd22574.json"}}, {"family": "Ekwall", "given": "Olov", "initials": "O", "orcid": "0000-0002-4506-9955", "researcher": {"href": "https://publications.scilifelab.se/researcher/2d7af11d7d30410d8fe5f3b5fbd0ba1d.json"}}, {"family": "Smith", "given": "C I Edvard", "initials": "CIE", "orcid": "0000-0003-1907-3392", "researcher": {"href": "https://publications.scilifelab.se/researcher/b3ea998a87b44c218f91701cf3019af1.json"}}], "type": "journal-article", "published": "2018-12-00", "journal": {"volume": "18", "issn": "1471-2431", "issue": "1", "pages": "285", "title": "BMC Pediatr", "issn-l": "1471-2431"}, "abstract": "A novel immunodeficiency, frequently accompanied by high serum-IgE, and caused by mutations in the PGM3 gene was described in 2014. To date there are no unique phenotype characteristics for PGM3 deficiency. PGM3 encodes a carbohydrate-modifying enzyme, phosphoglucomutase 3. Null-mutations are quite likely lethal, and to date only missense mutations or small deletions have been reported. Such mutations frequently cause a combination of reduced enzyme activity and protein instability, complicating determination of the enzyme level needed for survival. Here we present the first patient with a homozygous splice-modifying mutation in the PGM3 gene. An A > G substitution at position c.871 + 3 (transcript NM_001199917) is causing a deletion of exon 7 in the majority of PGM3 transcripts. In addition, this case further increases the clinical phenotypes of immunodeficiency caused by PGM3 mutations.\n\nWe describe the symptoms of a 3-year-old girl who was severely growth retarded, had vascular malformations, extensive eczema, multiple food-allergies, and was prone to infections. Unlike the majority of reported PGM3 deficient patients she lacked skeletal dysplasia and had normal neurocognitive development. In addition to the high serum-IgE, she displayed altered T cell numbers with reduced na\u00efve CD4+ and CD8+ T-cells, increased number of activated effector memory CD8+ T cells and aberrant T-cell functions. The patient was homozygous for a new hypomorphic, splice-modifying mutation in the PGM3 gene, causing severely reduced mRNA levels. In the patient's cells, we observed 5% intact mRNA and approximately 11% of the protein levels seen in healthy controls. Treatment with allogeneic hematopoietic stem cell therapy was planned, but unfortunately the clinical condition deteriorated with multi-organ failure, which led to her death at 3 years of age.\n\nThere is still no specific phenotype identified that distinguishes immunodeficiency caused by PGM3 mutations from other forms of immunodeficiency. The patient described here yields new information on the phenotypic variability among these patients. In addition, since all the synthesized protein is wild-type, it is possible for the first time to estimate the enzyme activity in vivo. The results suggest that1/10 of the normal PGM3 level is sufficient for survival but that it is insufficient for accurate carbohydrate processing.", "doi": "10.1186/s12887-018-1258-9", "pmid": "30157810", "labels": {"Clinical Genomics Stockholm": "Collaborative", "Clinical Genomics": "Collaborative"}, "xrefs": [{"db": "pmc", "key": "PMC6114780"}, {"db": "pii", "key": "10.1186/s12887-018-1258-9"}], "notes": [], "created": "2018-10-29T09:09:50.653Z", "modified": "2023-06-19T11:21:14.962Z"}]}