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"F", "orcid": "0000-0003-3750-2752", "researcher": {"href": "https://publications.scilifelab.se/researcher/cdca95394616420ba260e86d35809977.json"}}, {"family": "Boisson-Dupuis", "given": "St\u00e9phanie", "initials": "S", "orcid": "0000-0002-7115-116X", "researcher": {"href": "https://publications.scilifelab.se/researcher/5584eef132004c55a120c70d9a9f9eee.json"}}, {"family": "Casanova", "given": "Jean-Laurent", "initials": "JL", "orcid": "0000-0002-7782-4169", "researcher": {"href": "https://publications.scilifelab.se/researcher/009e2306468648c08fb1eea319f0c488.json"}}], "type": "journal article", "published": "2025-05-30", "journal": {"title": "Sci Immunol", "issn": "2470-9468", "volume": "10", "issue": "107", "pages": "eads7377", "issn-l": null}, "abstract": "CD4+ T cells are indispensable for optimal immunity to Mycobacterium tuberculosis (M.tb), a pathogen that triggers tuberculosis (TB) in humans. M.tb-specific human CD4+ T cells are known to polarize toward an interferon-\u03b3 (IFN-\u03b3)-producing, CCR4-CCR6+CXCR3+T-bet+ROR\u03b3T+ T helper 1* cell (TH1*cell) memory phenotype. We report that autosomal recessive deficiency of the human lymphocytic surface receptor LY9 (SLAMF3 and CD229), which is found in less than 10-5 individuals in the general population, underlies TB in three unrelated patients due to selective impairment in IFN-\u03b3 production by TH1* cells. TH1* cells express higher levels of LY9 than other CD4+ T cells. Mechanistically, LY9 polarizes na\u00efve CD4+ T cells toward memory TH1* cells by inducing T-bet via signaling lymphocytic activation molecule (SLAM)-associated protein (SAP) and ROR\u03b3T (thymus-specific retinoid-related orphan receptor \u03b3) without SAP. LY9 costimulation enhances TCR-driven IFN-\u03b3 production of memory TH1*, but not TH1, cells in a T cell-intrinsic manner via NFAT1 (nuclear factor of activated T cells 1) and ROR\u03b3T. LY9 is likely to govern an optimal TH1* cell- and IFN-\u03b3-dependent protective immunity to M.tb in humans.", "doi": "10.1126/sciimmunol.ads7377", "pmid": "40446017", "labels": {"Autoimmunity and Serology Profiling": "Service"}, "xrefs": [{"db": "mid", "key": "NIHMS2092213"}, {"db": "pmc", "key": "PMC12242830"}], "notes": [], "created": "2025-09-10T08:24:54.248Z", "modified": "2025-09-10T08:24:55.981Z"}, {"entity": "publication", "iuid": "5a47b007d10f4537ab374a8782b3030c", "links": {"self": {"href": "https://publications.scilifelab.se/publication/5a47b007d10f4537ab374a8782b3030c.json"}, "display": {"href": "https://publications.scilifelab.se/publication/5a47b007d10f4537ab374a8782b3030c"}}, "title": "Incontinentia pigmenti underlies thymic dysplasia, autoantibodies to type I IFNs, and viral diseases.", "authors": [{"family": "Rosain", "given": "J\u00e9r\u00e9mie", "initials": "J", "orcid": "0000-0002-2822-161X", "researcher": {"href": 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"initials": "JD", "orcid": "0000-0002-3913-3869", "researcher": {"href": "https://publications.scilifelab.se/researcher/545bca99a86840cd99bba67616ab7e38.json"}}, {"family": "Zhang", "given": "Shen-Ying", "initials": "SY", "orcid": "0000-0002-9449-3672", "researcher": {"href": "https://publications.scilifelab.se/researcher/590822f879bb49b7bac24d2c89bf5a12.json"}}, {"family": "Vabres", "given": "Pierre", "initials": "P", "orcid": "0000-0001-8693-3183", "researcher": {"href": "https://publications.scilifelab.se/researcher/5a44e5ed6a22477d9baa9e3fa90ac80d.json"}}, {"family": "Trpinac", "given": "Dusan", "initials": "D", "orcid": "0000-0003-2586-9223", "researcher": {"href": "https://publications.scilifelab.se/researcher/464a5f14a1614f9d9be6d1435fb32c40.json"}}, {"family": "Marr", "given": "Nico", "initials": "N", "orcid": "0000-0002-1927-7072", "researcher": {"href": "https://publications.scilifelab.se/researcher/5cc63695a4ca4553ae5ed703ea6bdcf8.json"}}, {"family": "Boddaert", "given": "Nathalie", "initials": "N", "orcid": "0000-0003-0991-7774", "researcher": {"href": "https://publications.scilifelab.se/researcher/8792cf210d9141689a84252945b1065e.json"}}, {"family": "Desguerre", "given": "Isabelle", "initials": "I", "orcid": "0000-0002-4074-5862", "researcher": {"href": "https://publications.scilifelab.se/researcher/6485398ddadc482582494a7258889361.json"}}, {"family": "Pasparakis", "given": "Manolis", "initials": "M", "orcid": "0000-0002-9870-0966", "researcher": {"href": "https://publications.scilifelab.se/researcher/2d615c1f6fa44e948a8b6b279922d4f3.json"}}, {"family": "Miller", "given": "Corey N", "initials": "CN", "orcid": "0000-0002-1291-0074", "researcher": {"href": "https://publications.scilifelab.se/researcher/456a306e949149db8f39e7355e663d59.json"}}, {"family": "Poziomczyk", "given": "Cl\u00e1udia S", "initials": "CS", "orcid": "0009-0006-6943-0131", "researcher": {"href": "https://publications.scilifelab.se/researcher/d593a96ddf184f5b890b36c3ed53a193.json"}}, {"family": "Abel", "given": "Laurent", "initials": "L", "orcid": "0000-0001-7016-6493", "researcher": {"href": "https://publications.scilifelab.se/researcher/24ef4ca1eb3a4b1bbee73f07cd64fe92.json"}}, {"family": "Okada", "given": "Satoshi", "initials": "S", "orcid": "0000-0002-4622-5657", "researcher": {"href": "https://publications.scilifelab.se/researcher/e2b6ede2a4284e61bce4c2634dbcc21c.json"}}, {"family": "Jouanguy", "given": "Emmanuelle", "initials": "E", "orcid": "0000-0002-7358-9157", "researcher": {"href": "https://publications.scilifelab.se/researcher/2667361dc2e7417bb94bfc89bf425cc6.json"}}, {"family": "Cheynier", "given": "R\u00e9mi", "initials": "R", "orcid": "0000-0003-1146-660X", "researcher": {"href": "https://publications.scilifelab.se/researcher/13961821f1b7495187d3781516e689ff.json"}}, {"family": "Zhang", "given": "Qian", "initials": "Q", "orcid": "0000-0002-9040-3289", "researcher": {"href": "https://publications.scilifelab.se/researcher/5bee352280384ad99b180f4f4bac42f5.json"}}, {"family": "Cobat", "given": "Aur\u00e9lie", "initials": "A", "orcid": "0000-0001-7209-6257", "researcher": {"href": "https://publications.scilifelab.se/researcher/eaba2f9452294eec89161b589d96ff29.json"}}, {"family": "B\u00e9ziat", "given": "Vivien", "initials": "V", "orcid": "0000-0002-4020-824X", "researcher": {"href": "https://publications.scilifelab.se/researcher/cb59e3ecbbba41c98215a9424f82d70f.json"}}, {"family": "Boisson", "given": "Bertrand", "initials": "B", "orcid": "0000-0001-5240-3555", "researcher": {"href": "https://publications.scilifelab.se/researcher/e7c47acbcc3346bcb65102b534b25cc8.json"}}, {"family": "Steffann", "given": "Julie", "initials": "J", "orcid": "0000-0001-5259-4144", "researcher": {"href": "https://publications.scilifelab.se/researcher/13d4691db00241b090a713afce1055e9.json"}}, {"family": "Fusco", "given": "Francesca", "initials": "F", "orcid": "0000-0002-7578-6058", "researcher": {"href": "https://publications.scilifelab.se/researcher/df60acb9ac5840a5aa45bed035d5118d.json"}}, {"family": "Ursini", "given": "Matilde Valeria", "initials": "MV", "orcid": "0000-0001-5348-3315", "researcher": {"href": "https://publications.scilifelab.se/researcher/f4d772f924674357af35c06013234aac.json"}}, {"family": "Hadj-Rabia", "given": "Smail", "initials": "S", "orcid": "0000-0001-6801-7106", "researcher": {"href": "https://publications.scilifelab.se/researcher/c423c3277c8a4b88a4a31a7c52f81fb0.json"}}, {"family": "Bodemer", "given": "Christine", "initials": "C", "orcid": "0000-0001-8772-0905", "researcher": {"href": "https://publications.scilifelab.se/researcher/c26f136c4c204df793828e404e63a9e0.json"}}, {"family": "Bustamante", "given": "Jacinta", "initials": "J", "orcid": "0000-0002-3439-2482", "researcher": {"href": "https://publications.scilifelab.se/researcher/152dc8084c1d4ba89ace373889bea81e.json"}}, {"family": "Luche", "given": "Herv\u00e9", "initials": "H", "orcid": "0000-0003-4309-8338", "researcher": {"href": "https://publications.scilifelab.se/researcher/4045e579b374436294f5ef4811fe6fc3.json"}}, {"family": "Puel", "given": "Anne", "initials": "A", "orcid": "0000-0003-2603-0323", "researcher": {"href": "https://publications.scilifelab.se/researcher/3bcef4c205904e5db9e36f3aadaa13bb.json"}}, {"family": "Courtois", "given": "Gilles", "initials": "G", "orcid": "0000-0003-3117-9595", "researcher": {"href": "https://publications.scilifelab.se/researcher/8f0a98c946c9408887e40f6e73f156c2.json"}}, {"family": "Bastard", "given": "Paul", "initials": "P", "orcid": "0000-0002-5926-8437", "researcher": {"href": "https://publications.scilifelab.se/researcher/3891533a59dc4185ba934b16e416e6ce.json"}}, {"family": "Landegren", "given": "Nils", "initials": "N", "orcid": "0000-0002-6163-9540", "researcher": {"href": "https://publications.scilifelab.se/researcher/13ceacb17b7448709f9bfcd593bec1e2.json"}}, {"family": "Anderson", "given": "Mark S", "initials": "MS", "orcid": "0000-0002-3093-4758", "researcher": {"href": "https://publications.scilifelab.se/researcher/4276efc31c1d4dbaaa242f11ef60c51e.json"}}, {"family": "Casanova", "given": "Jean-Laurent", "initials": "JL", "orcid": "0000-0002-7782-4169", "researcher": {"href": "https://publications.scilifelab.se/researcher/009e2306468648c08fb1eea319f0c488.json"}}], "type": "journal article", "published": "2024-11-04", "journal": {"title": "J. Exp. Med.", "issn": "1540-9538", "volume": "221", "issue": "11", "issn-l": "0022-1007"}, "abstract": "Human inborn errors of thymic T cell tolerance underlie the production of autoantibodies (auto-Abs) neutralizing type I IFNs, which predispose to severe viral diseases. We analyze 131 female patients with X-linked dominant incontinentia pigmenti (IP), heterozygous for loss-of-function (LOF) NEMO variants, from 99 kindreds in 10 countries. Forty-seven of these patients (36%) have auto-Abs neutralizing IFN-\u03b1 and/or IFN-\u03c9, a proportion 23 times higher than that for age-matched female controls. This proportion remains stable from the age of 6 years onward. On imaging, female patients with IP have a small, abnormally structured thymus. Auto-Abs against type I IFNs confer a predisposition to life-threatening viral diseases. By contrast, patients with IP lacking auto-Abs against type I IFNs are at no particular risk of viral disease. These results suggest that IP accelerates thymic involution, thereby underlying the production of auto-Abs neutralizing type I IFNs in at least a third of female patients with IP, predisposing them to life-threatening viral diseases.", "doi": "10.1084/jem.20231152", "pmid": "39352576", "labels": {"Autoimmunity and Serology Profiling": "Service"}, "xrefs": [{"db": "pii", "key": "277003"}], "notes": [], "created": "2024-10-03T15:01:34.155Z", "modified": "2024-10-03T15:01:41.828Z"}, {"entity": "publication", "iuid": "2100ae85312443b4bc17a637bf53770e", "links": {"self": {"href": "https://publications.scilifelab.se/publication/2100ae85312443b4bc17a637bf53770e.json"}, "display": {"href": "https://publications.scilifelab.se/publication/2100ae85312443b4bc17a637bf53770e"}}, "title": "Integrating a Polygenic Risk Score into a clinical setting would impact risk predictions in familial breast cancer.", "authors": [{"family": "Baliakas", "given": "Panagiotis", "initials": "P"}, {"family": "Munters", "given": "Arielle R", "initials": "AR"}, {"family": "K\u00e4mpe", "given": "Anders", "initials": "A"}, {"family": "Tesi", "given": "Bianca", "initials": "B"}, {"family": "Bondeson", "given": "Marie-Louise", "initials": "ML"}, {"family": "Ladenvall", "given": "Claes", "initials": "C"}, {"family": "Eriksson", "given": "Daniel", "initials": "D", "orcid": "0000-0001-5473-3312", "researcher": {"href": "https://publications.scilifelab.se/researcher/f9c26578a5e548f783b9465e04fb0bfc.json"}}], "type": "journal article", "published": "2023-08-14", "journal": {"title": "J. Med. Genet.", "issn": "1468-6244", "issn-l": "0022-2593"}, "abstract": "Low-impact genetic variants identified in population-based genetic studies are not routinely measured as part of clinical genetic testing in familial breast cancer (BC). We studied the consequences of integrating an established Polygenic Risk Score (PRS) (BCAC 313, PRS313) into clinical sequencing of women with familial BC in Sweden.\n\nWe developed an add-on sequencing panel to capture 313 risk variants in addition to the clinical screening of hereditary BC genes. Index patients with no pathogenic variant from 87 families, and 1000 population controls, were included in comparative PRS calculations. Including detailed family history, sequencing results and tumour pathology information, we used BOADICEA (Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm) V.6 to estimate contralateral and lifetime risks without and with PRS313.\n\nWomen with BC but no pathogenic variants in hereditary BC genes have a higher PRS313 compared with population controls (mean+0.78 SD, p<3e-9). Implementing PRS313 in the clinical risk estimation before their BC diagnosis would have changed the recommended follow-up in 24%-45% of women.\n\nOur results show the potential impact of incorporating PRS313 directly in the clinical genomic investigation of women with familial BC.", "doi": "10.1136/jmg-2023-109311", "pmid": "37580114", "labels": {"Clinical Genomics Uppsala": "Collaborative", "Bioinformatics Support for Computational Resources": "Service", "Clinical Genomics": "Collaborative"}, "xrefs": [{"db": "pii", "key": "jmg-2023-109311"}], "notes": [], "created": "2023-11-29T08:27:57.510Z", "modified": "2024-01-16T13:48:32.488Z"}, {"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": "b47eaaf183d04aac8512a94a34b8cdcd", "links": {"self": {"href": "https://publications.scilifelab.se/publication/b47eaaf183d04aac8512a94a34b8cdcd.json"}, "display": {"href": "https://publications.scilifelab.se/publication/b47eaaf183d04aac8512a94a34b8cdcd"}}, "title": "Comment on 'AIRE-deficient patients harbor unique high-affinity disease-ameliorating autoantibodies'.", "authors": [{"family": "Landegren", "given": "Nils", "initials": "N", "orcid": "0000-0002-6163-9540", "researcher": {"href": "https://publications.scilifelab.se/researcher/13ceacb17b7448709f9bfcd593bec1e2.json"}}, {"family": "Rosen", "given": "Lindsey B", "initials": "LB", "orcid": "0000-0001-5894-3878", "researcher": {"href": "https://publications.scilifelab.se/researcher/03ee4a40ef9343a9af897979b0e8e2dc.json"}}, {"family": "Freyhult", "given": "Eva", "initials": "E", "orcid": "0000-0003-0226-1047", "researcher": {"href": "https://publications.scilifelab.se/researcher/be110f11a53d4dcfa3bfd1657167895e.json"}}, {"family": "Eriksson", "given": "Daniel", "initials": "D", "orcid": "0000-0001-5473-3312", "researcher": {"href": "https://publications.scilifelab.se/researcher/f9c26578a5e548f783b9465e04fb0bfc.json"}}, {"family": "Fall", "given": "Tove", "initials": "T"}, {"family": "Smith", "given": "Gustav", "initials": "G"}, {"family": "Ferre", "given": "Elise M N", "initials": "EMN", "orcid": "0000-0002-3285-7768", "researcher": {"href": "https://publications.scilifelab.se/researcher/41ec8466cb88424fb1d29e07c63df47c.json"}}, {"family": "Brodin", "given": "Petter", "initials": "P", "orcid": "0000-0002-8103-0046", "researcher": {"href": "https://publications.scilifelab.se/researcher/40097353cdb24e52bf2330eb687042bf.json"}}, {"family": "Sharon", "given": "Donald", "initials": "D"}, {"family": "Snyder", "given": "Michael", "initials": "M", "orcid": "0000-0003-0784-7987", "researcher": {"href": "https://publications.scilifelab.se/researcher/a2594af48f3d45e68983030873c06cf5.json"}}, {"family": "Lionakis", "given": "Michail", "initials": "M"}, {"family": "Anderson", "given": "Mark", "initials": "M"}, {"family": "K\u00e4mpe", "given": "Olle", "initials": "O", "orcid": "0000-0001-6091-9914", "researcher": {"href": "https://publications.scilifelab.se/researcher/2c547dc809a14cdaa47b623cf638162b.json"}}], "type": "journal article", "published": "2019-06-27", "journal": {"volume": "8", "issn": "2050-084X", "issue": null, "title": "Elife", "issn-l": "2050-084X"}, "abstract": "The AIRE gene plays a key role in the development of central immune tolerance by promoting thymic presentation of tissue-specific molecules. Patients with AIRE-deficiency develop multiple autoimmune manifestations and display autoantibodies against the affected tissues. In 2016 it was reported that: i) the spectrum of autoantibodies in patients with AIRE-deficiency is much broader than previously appreciated; ii) neutralizing autoantibodies to type I interferons (IFNs) could provide protection against type 1 diabetes in these patients (Meyer et al., 2016). We attempted to replicate these new findings using a similar experimental approach in an independent patient cohort, and found no evidence for either conclusion.", "doi": "10.7554/eLife.43578", "pmid": "31244471", "labels": {"Bioinformatics Support, Infrastructure and Training": "Service", "Bioinformatics Support and Infrastructure": "Service", "Autoimmunity and Serology Profiling": "Service", "Bioinformatics (NBIS)": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC6597240"}, {"db": "pii", "key": "43578"}], "notes": [], "created": "2019-06-30T19:14:13.830Z", "modified": "2023-06-19T12:50:16.488Z"}, {"entity": "publication", "iuid": "363baf22ded848369cab003f044d527c", "links": {"self": {"href": "https://publications.scilifelab.se/publication/363baf22ded848369cab003f044d527c.json"}, "display": {"href": "https://publications.scilifelab.se/publication/363baf22ded848369cab003f044d527c"}}, "title": "Common genetic variation in the autoimmune regulator (AIRE) locus is associated with autoimmune Addison's disease in Sweden.", "authors": [{"family": "Eriksson", "given": "Daniel", "initials": "D", "orcid": "0000-0001-5473-3312", "researcher": {"href": "https://publications.scilifelab.se/researcher/f9c26578a5e548f783b9465e04fb0bfc.json"}}, {"family": "Bianchi", "given": "Matteo", "initials": "M"}, {"family": "Landegren", "given": "Nils", "initials": "N"}, {"family": "Dalin", "given": "Frida", "initials": "F"}, {"family": "Skov", "given": "Jakob", "initials": "J"}, {"family": "Hultin-Rosenberg", "given": "Lina", "initials": "L"}, {"family": "Mathioudaki", "given": "Argyri", "initials": "A"}, {"family": "Nordin", "given": "Jessika", "initials": "J"}, {"family": "Hallgren", "given": "\u00c5sa", "initials": "\u00c5"}, {"family": "Andersson", "given": "G\u00f6ran", "initials": "G"}, {"family": "Tandre", "given": "Karolina", "initials": "K"}, {"family": "Rantap\u00e4\u00e4 Dahlqvist", "given": "Solbritt", "initials": "S"}, {"family": "S\u00f6derkvist", "given": "Peter", "initials": "P", "orcid": "0000-0001-9867-8706", "researcher": {"href": "https://publications.scilifelab.se/researcher/c1fc163b9a08421180f7f235af3897f4.json"}}, {"family": "R\u00f6nnblom", "given": "Lars", "initials": "L"}, {"family": "Hulting", "given": "Anna-Lena", "initials": "AL"}, {"family": "Wahlberg", "given": "Jeanette", "initials": "J"}, {"family": "Dahlqvist", "given": "Per", "initials": "P"}, {"family": "Ekwall", "given": "Olov", "initials": "O"}, {"family": "Meadows", "given": "Jennifer R S", "initials": "JRS"}, {"family": "Lindblad-Toh", "given": "Kerstin", "initials": "K", "orcid": "0000-0001-8338-0253", "researcher": {"href": "https://publications.scilifelab.se/researcher/e0063145f7d6476f80ab42f94833f4cf.json"}}, {"family": "Bensing", "given": "Sophie", "initials": "S"}, {"family": "Rosengren Pielberg", "given": "Gerli", "initials": "G"}, {"family": "K\u00e4mpe", "given": "Olle", "initials": "O", "orcid": "0000-0001-6091-9914", "researcher": {"href": "https://publications.scilifelab.se/researcher/2c547dc809a14cdaa47b623cf638162b.json"}}], "type": "journal article", "published": "2018-05-30", "journal": {"volume": "8", "issn": "2045-2322", "issue": "1", "pages": "8395", "title": "Sci Rep", "issn-l": "2045-2322"}, "abstract": "Autoimmune Addison's disease (AAD) is the predominating cause of primary adrenal failure. Despite its high heritability, the rarity of disease has long made candidate-gene studies the only feasible methodology for genetic studies. Here we conducted a comprehensive reinvestigation of suggested AAD risk loci and more than 1800 candidate genes with associated regulatory elements in 479 patients with AAD and 2394 controls. Our analysis enabled us to replicate many risk variants, but several other previously suggested risk variants failed confirmation. By exploring the full set of 1800 candidate genes, we further identified common variation in the autoimmune regulator (AIRE) as a novel risk locus associated to sporadic AAD in our study. Our findings not only confirm that multiple loci are associated with disease risk, but also show to what extent the multiple risk loci jointly associate to AAD. In total, risk loci discovered to date only explain about 7% of variance in liability to AAD in our study population.", "doi": "10.1038/s41598-018-26842-2", "pmid": "29849176", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pii", "key": "10.1038/s41598-018-26842-2"}, {"db": "pmc", "key": "PMC5976627"}], "notes": [], "created": "2018-06-15T07:31:30.585Z", "modified": "2024-01-16T13:48:46.273Z"}, {"entity": "publication", "iuid": "4d24e6c3e9964c54b9ac5031bb376794", "links": {"self": {"href": "https://publications.scilifelab.se/publication/4d24e6c3e9964c54b9ac5031bb376794.json"}, "display": {"href": "https://publications.scilifelab.se/publication/4d24e6c3e9964c54b9ac5031bb376794"}}, "title": "Extended exome sequencing identifies BACH2 as a novel major risk locus for Addison's disease.", "authors": [{"family": "Eriksson", "given": "D", "initials": "D", "orcid": "0000-0001-5473-3312", "researcher": {"href": "https://publications.scilifelab.se/researcher/f9c26578a5e548f783b9465e04fb0bfc.json"}}, {"family": "Bianchi", "given": "M", "initials": "M"}, {"family": "Landegren", "given": "N", "initials": "N"}, {"family": "Nordin", "given": "J", "initials": "J"}, {"family": "Dalin", "given": "F", "initials": "F"}, {"family": "Mathioudaki", "given": "A", "initials": "A"}, {"family": "Eriksson", "given": "G N", "initials": "GN"}, {"family": "Hultin-Rosenberg", "given": "L", "initials": "L"}, {"family": "Dahlqvist", "given": "J", "initials": "J"}, {"family": "Zetterqvist", "given": "H", "initials": "H"}, {"family": "Karlsson", "given": "\u00c5", "initials": "\u00c5"}, {"family": "Hallgren", "given": "\u00c5", "initials": "\u00c5"}, {"family": "Farias", "given": "F H G", "initials": "FH"}, {"family": "Mur\u00e9n", "given": "E", "initials": "E"}, {"family": "Ahlgren", "given": "K M", "initials": "KM"}, {"family": "Lobell", "given": "A", "initials": "A"}, {"family": "Andersson", "given": "G", "initials": "G"}, {"family": "Tandre", "given": "K", "initials": "K"}, {"family": "Dahlqvist", "given": "S R", "initials": "SR"}, {"family": "S\u00f6derkvist", "given": "P", "initials": "P", "orcid": "0000-0001-9867-8706", "researcher": {"href": "https://publications.scilifelab.se/researcher/c1fc163b9a08421180f7f235af3897f4.json"}}, {"family": "R\u00f6nnblom", "given": "L", "initials": "L"}, {"family": "Hulting", "given": "A-L", "initials": "AL"}, {"family": "Wahlberg", "given": "J", "initials": "J"}, {"family": "Ekwall", "given": "O", "initials": "O"}, {"family": "Dahlqvist", "given": "P", "initials": "P"}, {"family": "Meadows", "given": "J R S", "initials": "JR"}, {"family": "Bensing", "given": "S", "initials": "S"}, {"family": "Lindblad-Toh", "given": "K", "initials": "K", "orcid": "0000-0001-8338-0253", "researcher": {"href": "https://publications.scilifelab.se/researcher/e0063145f7d6476f80ab42f94833f4cf.json"}}, {"family": "K\u00e4mpe", "given": "O", "initials": "O"}, {"family": "Pielberg", "given": "G R", "initials": "GR"}], "type": "journal article", "published": "2016-12-00", "journal": {"volume": "280", "issn": "1365-2796", "issue": "6", "pages": "595-608", "title": "J. Intern. Med.", "issn-l": "0954-6820"}, "abstract": "Autoimmune disease is one of the leading causes of morbidity and mortality worldwide. In Addison's disease, the adrenal glands are targeted by destructive autoimmunity. Despite being the most common cause of primary adrenal failure, little is known about its aetiology.\n\nTo understand the genetic background of Addison's disease, we utilized the extensively characterized patients of the Swedish Addison Registry. We developed an extended exome capture array comprising a selected set of 1853 genes and their potential regulatory elements, for the purpose of sequencing 479 patients with Addison's disease and 1394 controls.\n\nWe identified BACH2 (rs62408233-A, OR = 2.01 (1.71-2.37), P = 1.66 \u00d7 10-15 , MAF 0.46/0.29 in cases/controls) as a novel gene associated with Addison's disease development. We also confirmed the previously known associations with the HLA complex.\n\nWhilst BACH2 has been previously reported to associate with organ-specific autoimmune diseases co-inherited with Addison's disease, we have identified BACH2 as a major risk locus in Addison's disease, independent of concomitant autoimmune diseases. Our results may enable future research towards preventive disease treatment.", "doi": "10.1111/joim.12569", "pmid": "27807919", "labels": {"National Genomics Infrastructure": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [], "notes": [], "created": "2017-05-03T13:00:13.666Z", "modified": "2024-01-16T13:48:48.898Z"}]}