{"entity": "researcher", "timestamp": "2026-06-09T23:48:27.562Z", "family": "K\u00e4mpe", "given": "Olle", "initials": "O", "orcid": "0000-0001-6091-9914", "affiliations": ["Department of Medicine (Solna), Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.", "Department of Endocrinology, Metabolism and Diabetes Karolinska University Hospital, Stockholm, Sweden.", "K.G. Jebsen Center for Autoimmune Diseases, Bergen, Norway."], "links": {"self": {"href": "https://publications.scilifelab.se/researcher/2c547dc809a14cdaa47b623cf638162b.json"}, "display": {"href": "https://publications.scilifelab.se/researcher/2c547dc809a14cdaa47b623cf638162b"}}, "publications": [{"entity": "publication", "iuid": "d68819db6d2b4972833ed77bcff28ccc", "links": {"self": {"href": "https://publications.scilifelab.se/publication/d68819db6d2b4972833ed77bcff28ccc.json"}, "display": {"href": "https://publications.scilifelab.se/publication/d68819db6d2b4972833ed77bcff28ccc"}}, "title": "Human LY9 governs CD4+ T cell IFN-\u03b3 immunity to Mycobacterium tuberculosis.", "authors": [{"family": "Ogishi", "given": "Masato", "initials": "M", "orcid": "0000-0003-2421-7389", "researcher": {"href": "https://publications.scilifelab.se/researcher/d9205246af72422f993f696135d03d00.json"}}, {"family": "Puchan", "given": "Julia", "initials": "J", "orcid": "0000-0003-0284-3629", "researcher": {"href": "https://publications.scilifelab.se/researcher/6067f38c03114b40981e92d0337479b0.json"}}, {"family": "Yang", "given": "Rui", "initials": "R", "orcid": "0000-0003-4427-2158", "researcher": {"href": "https://publications.scilifelab.se/researcher/0e4faa40d4b94755a28e630d6e26c918.json"}}, {"family": "Arias", "given": "Andr\u00e9s Augusto", "initials": "AA"}, {"family": "Han", "given": "Ji Eun", "initials": "JE", "orcid": "0000-0003-1112-9320", "researcher": {"href": "https://publications.scilifelab.se/researcher/c81e24eb454147e1b68e642748424c0d.json"}}, {"family": "Nguyen", "given": "Tina", "initials": "T", "orcid": "0000-0003-0709-3636", "researcher": {"href": "https://publications.scilifelab.se/researcher/28a78707a08d4614bba6392434635526.json"}}, {"family": "Guti\u00e9rrez-C\u00f3zar", "given": "Rebeca", "initials": "R", "orcid": "0000-0003-0348-3223", "researcher": {"href": "https://publications.scilifelab.se/researcher/0042df6ba0b74d4aae8b17e7785b33ce.json"}}, {"family": "Conil", "given": "Cl\u00e9ment", "initials": "C"}, {"family": "Seeleuthner", "given": "Yoann", "initials": "Y"}, {"family": "Rinchai", "given": "Darawan", "initials": "D", "orcid": "0000-0001-8851-7730", "researcher": {"href": "https://publications.scilifelab.se/researcher/83435aa472e94885bf67a8cad09737fd.json"}}, {"family": "Zhang", "given": "Peng", "initials": "P", "orcid": "0000-0002-6129-567X", "researcher": {"href": "https://publications.scilifelab.se/researcher/20fcd31c47a940e8b72a8eb8d6e2a63b.json"}}, {"family": "Ponsin", "given": "Khoren", "initials": "K"}, {"family": "Chaldebas", "given": "Matthieu", "initials": "M", "orcid": "0000-0002-4920-3947", "researcher": {"href": "https://publications.scilifelab.se/researcher/8ade171e91a94d3eac168e79443b954b.json"}}, {"family": "Feng", "given": "Yi", "initials": "Y", "orcid": "0000-0002-2393-1700", "researcher": {"href": "https://publications.scilifelab.se/researcher/779f0d6a0fda42e99f58a2f09f17b2d2.json"}}, {"family": "Neehus", "given": "Anna-Lena", "initials": "AL", "orcid": "0000-0002-8573-6820", "researcher": {"href": "https://publications.scilifelab.se/researcher/f0d78343f97c469cb88a2d38fd4945ec.json"}}, {"family": "Delmonte", "given": "Ottavia M", "initials": "OM", "orcid": "0000-0002-4772-0799", "researcher": {"href": "https://publications.scilifelab.se/researcher/8036b2ad257e4aa680127162020b0c28.json"}}, {"family": "Khan", "given": "Taushif", "initials": "T", "orcid": "0000-0002-7917-8965", "researcher": {"href": "https://publications.scilifelab.se/researcher/c19c3e42c4e9403eb5e37f3257ef1c04.json"}}, {"family": "Landegren", "given": "Nils", "initials": "N"}, {"family": "Eriksson", "given": "Daniel", "initials": "D", "orcid": "0000-0001-5473-3312", "researcher": {"href": "https://publications.scilifelab.se/researcher/f9c26578a5e548f783b9465e04fb0bfc.json"}}, {"family": "Bohlen", "given": "Jonathan", "initials": "J", "orcid": "0000-0003-0458-9484", "researcher": {"href": 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"https://publications.scilifelab.se/researcher/29a0e7587c494ae68155085ee0a1a1cd.json"}}, {"family": "Ouair", "given": "Hind", "initials": "H"}, {"family": "Benhsaien", "given": "Ibtihal", "initials": "I", "orcid": "0000-0001-5727-9629", "researcher": {"href": "https://publications.scilifelab.se/researcher/7a7e07f8530c4d2482f60f8e60df5d46.json"}}, {"family": "Abid", "given": "Ahmed", "initials": "A", "orcid": "0000-0003-4885-6572", "researcher": {"href": "https://publications.scilifelab.se/researcher/6b1708390385407cae181952bdcde860.json"}}, {"family": "Abderrhamani Ghorfi", "given": "Ismail", "initials": "I", "orcid": "0000-0001-6403-0098", "researcher": {"href": "https://publications.scilifelab.se/researcher/f040661497c2440da7a6f6687863df63.json"}}, {"family": "Souhi", "given": "Hicham", "initials": "H", "orcid": "0000-0003-3183-1627", "researcher": {"href": "https://publications.scilifelab.se/researcher/93ebbf18946842a3ada75998b5a95df9.json"}}, {"family": "Ouazzani", "given": "Hanane", "initials": "H"}, {"family": "Aniss", "given": "Rafik", "initials": "R"}, {"family": "Riminton", "given": "D Sean", "initials": "DS", "orcid": "0000-0002-9953-9959", "researcher": {"href": "https://publications.scilifelab.se/researcher/8f500629c8194268b99b12b9d6ce2970.json"}}, {"family": "K\u00e4mpe", "given": "Olle", "initials": "O", "orcid": "0000-0001-6091-9914", "researcher": {"href": "https://publications.scilifelab.se/researcher/2c547dc809a14cdaa47b623cf638162b.json"}}, {"family": "Turvey", "given": "Stuart E", "initials": "SE", "orcid": "0000-0003-1599-1065", "researcher": {"href": "https://publications.scilifelab.se/researcher/55c5b74659bf4f9dac9e02826a9d6cec.json"}}, {"family": "Marr", "given": "Nico", "initials": "N", "orcid": "0000-0002-1927-7072", "researcher": {"href": "https://publications.scilifelab.se/researcher/5cc63695a4ca4553ae5ed703ea6bdcf8.json"}}, {"family": "Notarangelo", "given": "Luigi D", "initials": "LD", "orcid": "0000-0002-8335-0262", "researcher": {"href": "https://publications.scilifelab.se/researcher/d8d346e44c2d443ba3da3fcf2725b96c.json"}}, {"family": "Hatipoglu", "given": "Nevin", "initials": "N", "orcid": "0000-0003-2858-0150", "researcher": {"href": "https://publications.scilifelab.se/researcher/d396fdc46870452697c42b889866e40e.json"}}, {"family": "Bousfiha", "given": "Aziz", "initials": "A", "orcid": "0000-0002-5011-9873", "researcher": {"href": "https://publications.scilifelab.se/researcher/e0206681da8543a39287d5b5d22f71fb.json"}}, {"family": "Ozcelik", "given": "Tayfun", "initials": "T", "orcid": "0000-0001-5937-1082", "researcher": {"href": "https://publications.scilifelab.se/researcher/251a5fd386594151b80b5a3a71f6ab58.json"}}, {"family": "El Baghdadi", "given": "Jamila", "initials": "J", "orcid": "0000-0002-1920-2310", "researcher": {"href": "https://publications.scilifelab.se/researcher/a9f21356552345c8a7f1085e5dc92d35.json"}}, {"family": "Cobat", "given": "Aurelie", "initials": "A", "orcid": "0000-0001-7209-6257", "researcher": {"href": "https://publications.scilifelab.se/researcher/eaba2f9452294eec89161b589d96ff29.json"}}, {"family": "Ma", "given": "Cindy S", "initials": "CS", "orcid": "0000-0001-5387-8413", "researcher": {"href": "https://publications.scilifelab.se/researcher/398f17ef657242a1a091b04d05388cf9.json"}}, {"family": "Abel", "given": "Laurent", "initials": "L", "orcid": "0000-0001-7016-6493", "researcher": {"href": "https://publications.scilifelab.se/researcher/24ef4ca1eb3a4b1bbee73f07cd64fe92.json"}}, {"family": "Puel", "given": "Anne", "initials": "A", "orcid": "0000-0003-2603-0323", "researcher": {"href": "https://publications.scilifelab.se/researcher/3bcef4c205904e5db9e36f3aadaa13bb.json"}}, {"family": "Bustamante", "given": "Jacinta", "initials": "J", "orcid": "0000-0002-3439-2482", "researcher": {"href": "https://publications.scilifelab.se/researcher/152dc8084c1d4ba89ace373889bea81e.json"}}, {"family": "Engel", "given": "Pablo", "initials": "P", "orcid": "0000-0001-8410-252X", "researcher": {"href": "https://publications.scilifelab.se/researcher/3ce0386cfa7d4851bfd8d16f2b0b8f71.json"}}, {"family": "Gros", "given": "Philippe", "initials": "P", "orcid": "0000-0002-0114-1978", "researcher": {"href": "https://publications.scilifelab.se/researcher/b0012dd9120a421ebdda3f5da528ec16.json"}}, {"family": "Tangye", "given": "Stuart G", "initials": "SG", "orcid": "0000-0002-5360-5180", "researcher": {"href": "https://publications.scilifelab.se/researcher/1e3fa03cfc304a8aa0262e5f8c51665d.json"}}, {"family": "Sallusto", "given": "Federica", "initials": "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": "3ac2338c940e45e6acafb257753df065", "links": {"self": {"href": "https://publications.scilifelab.se/publication/3ac2338c940e45e6acafb257753df065.json"}, "display": {"href": "https://publications.scilifelab.se/publication/3ac2338c940e45e6acafb257753df065"}}, "title": "Immune system adaptation during gender-affirming testosterone treatment.", "authors": [{"family": "Lakshmikanth", "given": "Tadepally", "initials": "T", "orcid": "0000-0001-7256-5770", "researcher": {"href": "https://publications.scilifelab.se/researcher/92e81aa6b0cf4ff0a18b14098bf0fcc1.json"}}, {"family": "Consiglio", "given": "Camila", "initials": "C", "orcid": "0000-0002-8901-2328", "researcher": {"href": "https://publications.scilifelab.se/researcher/7df7044aa718438ca370ed90cdd9c282.json"}}, {"family": "Sardh", "given": "Fabian", "initials": "F"}, {"family": "Forlin", "given": "Rikard", "initials": "R"}, {"family": "Wang", "given": "Jun", "initials": "J"}, {"family": "Tan", "given": "Ziyang", "initials": "Z"}, {"family": "Barcenilla", "given": "Hugo", "initials": "H", "orcid": "0000-0002-7255-362X", "researcher": {"href": "https://publications.scilifelab.se/researcher/e0f0d6085e774a0fbdc1ad8d6eea3c23.json"}}, {"family": "Rodriguez", "given": "Lucie", "initials": "L", "orcid": "0000-0002-3692-9060", "researcher": {"href": "https://publications.scilifelab.se/researcher/1f9c2cfec48e4c4d8e9bc528a02d489b.json"}}, {"family": "Sugrue", "given": "Jamie", "initials": "J"}, {"family": "Noori", "given": "Peri", "initials": "P"}, {"family": "Ivanchenko", "given": "Margarita", "initials": "M"}, {"family": "Pi\u00f1ero P\u00e1ez", "given": "Laura", "initials": "L"}, {"family": "Gonzalez", "given": "Laura", "initials": "L"}, {"family": "Habimana Mugabo", "given": "Constantin", "initials": "C"}, {"family": "Johnsson", "given": "Anette", "initials": "A"}, {"family": "Ryberg", "given": "Henrik", "initials": "H"}, {"family": "Hallgren", "given": "\u00c5sa", "initials": "\u00c5"}, {"family": "Pou", "given": "Christian", "initials": "C"}, {"family": "Chen", "given": "Yang", "initials": "Y"}, {"family": "Mike\u0161", "given": "Jarom\u00edr", "initials": "J", "orcid": "0000-0002-9941-7855", "researcher": {"href": "https://publications.scilifelab.se/researcher/21c127bffa7c4a01af7fad8ba6bac90b.json"}}, {"family": "James", "given": "Anna", "initials": "A"}, {"family": "Dahlqvist", "given": "Per", "initials": "P", "orcid": "0000-0002-6471-9503", "researcher": {"href": "https://publications.scilifelab.se/researcher/3577b15f446643499c52143174a5e15b.json"}}, {"family": "Wahlberg", "given": "Jeanette", "initials": "J", "orcid": "0000-0003-4061-6830", "researcher": {"href": "https://publications.scilifelab.se/researcher/a3c768cb21cb4d0ca6ed684ad39e9121.json"}}, {"family": "Hagelin", "given": "Anders", "initials": "A"}, {"family": "Holmberg", "given": "Mats", "initials": "M", "orcid": "0000-0003-2884-9981", "researcher": {"href": "https://publications.scilifelab.se/researcher/38b253b834ed4733af1e5a13daac7541.json"}}, {"family": "Degerblad", "given": "Marie", "initials": "M"}, {"family": "Isaksson", "given": "Magnus", "initials": "M"}, {"family": "Duffy", "given": "Darragh", "initials": "D", "orcid": "0000-0002-8875-2308", "researcher": {"href": "https://publications.scilifelab.se/researcher/dce1a0fd17154c73b30f23c2a58bd390.json"}}, {"family": "K\u00e4mpe", "given": "Olle", "initials": "O", "orcid": "0000-0001-6091-9914", "researcher": {"href": "https://publications.scilifelab.se/researcher/2c547dc809a14cdaa47b623cf638162b.json"}}, {"family": "Landegren", "given": "Nils", "initials": "N"}, {"family": "Brodin", "given": "Petter", "initials": "P", "orcid": "0000-0002-8103-0046", "researcher": {"href": "https://publications.scilifelab.se/researcher/40097353cdb24e52bf2330eb687042bf.json"}}], "type": "journal article", "published": "2024-09-00", "journal": {"title": "Nature", "issn": "1476-4687", "volume": "633", "issue": "8028", "pages": "155-164", "issn-l": "0028-0836"}, "abstract": "Infectious, inflammatory and autoimmune conditions present differently in males and females. SARS-CoV-2 infection in naive males is associated with increased risk of death, whereas females are at increased risk of long COVID1, similar to observations in other infections2. Females respond more strongly to vaccines, and adverse reactions are more frequent3, like most autoimmune diseases4. Immunological sex differences stem from genetic, hormonal and behavioural factors5 but their relative importance is only partially understood6-8. In individuals assigned female sex at birth and undergoing gender-affirming testosterone therapy (trans men), hormone concentrations change markedly but the immunological consequences are poorly understood. Here we performed longitudinal systems-level analyses in 23 trans men and found that testosterone modulates a cross-regulated axis between type-I interferon and tumour necrosis factor. This is mediated by functional attenuation of type-I interferon responses in both plasmacytoid dendritic cells and monocytes. Conversely, testosterone potentiates monocyte responses leading to increased tumour necrosis factor, interleukin-6 and interleukin-15 production and downstream activation of nuclear factor kappa B-regulated genes and potentiation of interferon-\u03b3 responses, primarily in natural killer cells. These findings in trans men are corroborated by sex-divergent responses in public datasets and illustrate the dynamic regulation of human immunity by sex hormones, with implications for the health of individuals undergoing hormone therapy and our understanding of sex-divergent immune responses in cisgender individuals.", "doi": "10.1038/s41586-024-07789-z", "pmid": "39232147", "labels": {"Affinity Proteomics Stockholm": "Service", "NGI Stockholm (Genomics Production)": "Service", "National Genomics Infrastructure": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC11374716"}, {"db": "pii", "key": "10.1038/s41586-024-07789-z"}], "notes": [], "created": "2024-09-05T12:15:43.557Z", "modified": "2024-11-25T10:19:29.191Z"}, {"entity": "publication", "iuid": "2c7e8f4c3e31469680b6105822961662", "links": {"self": {"href": "https://publications.scilifelab.se/publication/2c7e8f4c3e31469680b6105822961662.json"}, "display": {"href": "https://publications.scilifelab.se/publication/2c7e8f4c3e31469680b6105822961662"}}, "title": "No link between type I interferon autoantibody positivity and adverse reactions to COVID-19 vaccines.", "authors": [{"family": "Yalcinkaya", "given": "Ahmet", "initials": "A", "orcid": "0000-0002-1172-3330", "researcher": {"href": "https://publications.scilifelab.se/researcher/512b8aff987b407b81bb88460790769d.json"}}, {"family": "Cavalli", "given": "Marco", "initials": "M"}, {"family": "Cederholm", "given": "Axel", "initials": "A", "orcid": "0009-0006-5973-9637", "researcher": {"href": "https://publications.scilifelab.se/researcher/b2dffb2fd8e446d6a72c765602b97291.json"}}, {"family": "Aranda-Guill\u00e9n", "given": "Maribel", "initials": "M", "orcid": "0000-0003-0050-704X", "researcher": {"href": "https://publications.scilifelab.se/researcher/65dc88b917274bc595daed855b63abab.json"}}, {"family": "Behere", "given": "Anish", "initials": "A", "orcid": "0000-0002-2424-3475", "researcher": {"href": "https://publications.scilifelab.se/researcher/1c155029e86d458cad39ed4c2670c880.json"}}, {"family": "Mildner", "given": "Hedvig", "initials": "H", "orcid": "0009-0009-6636-2008", "researcher": {"href": "https://publications.scilifelab.se/researcher/a467c3b4499349daa62148a97e8f0e14.json"}}, {"family": "Lakshmikanth", "given": "Tadepally", "initials": "T", "orcid": "0000-0001-7256-5770", "researcher": {"href": "https://publications.scilifelab.se/researcher/92e81aa6b0cf4ff0a18b14098bf0fcc1.json"}}, {"family": "Gonzalez", "given": "Laura", "initials": "L"}, {"family": "Mugabo", "given": "Constantin Habimana", "initials": "CH"}, {"family": "Johnsson", "given": "Anette", "initials": "A"}, {"family": "Ekwall", "given": "Olov", "initials": "O"}, {"family": "K\u00e4mpe", "given": "Olle", "initials": "O", "orcid": "0000-0001-6091-9914", "researcher": {"href": "https://publications.scilifelab.se/researcher/2c547dc809a14cdaa47b623cf638162b.json"}}, {"family": "Bensing", "given": "Sophie", "initials": "S"}, {"family": "Brodin", "given": "Petter", "initials": "P"}, {"family": "Hallberg", "given": "P\u00e4r", "initials": "P"}, {"family": "Wadelius", "given": "Mia", "initials": "M", "orcid": "0000-0002-6368-2622", "researcher": {"href": "https://publications.scilifelab.se/researcher/ec07b9869a1f4b77b734c5dc567dc630.json"}}, {"family": "Landegren", "given": "Nils", "initials": "N"}], "type": "journal article", "published": "2024-02-22", "journal": {"title": "NPJ Vaccines", "issn": "2059-0105", "volume": "9", "issue": "1", "pages": "42", "issn-l": null}, "abstract": "Type I interferons act as gatekeepers against viral infection, and autoantibodies that neutralize these signaling molecules have been associated with COVID-19 severity and adverse reactions to the live-attenuated yellow fever vaccine. On this background, we sought to examine whether autoantibodies against type I interferons were associated with adverse events following COVID-19 vaccination. Our nationwide analysis suggests that type I interferon autoantibodies were not associated with adverse events after mRNA or viral-vector COVID-19 vaccines.", "doi": "10.1038/s41541-024-00829-9", "pmid": "38388530", "labels": {"Autoimmunity and Serology Profiling": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC10883980"}, {"db": "pii", "key": "10.1038/s41541-024-00829-9"}], "notes": [], "created": "2024-02-26T09:44:09.668Z", "modified": "2024-09-23T11:56:03.318Z"}, {"entity": "publication", "iuid": "80543734f42047bd8b359d3a2c96c420", "links": {"self": {"href": "https://publications.scilifelab.se/publication/80543734f42047bd8b359d3a2c96c420.json"}, "display": {"href": "https://publications.scilifelab.se/publication/80543734f42047bd8b359d3a2c96c420"}}, "title": "Autoantibodies against type I IFNs in humans with alternative NF-\u03baB pathway deficiency.", "authors": [{"family": "Le Voyer", "given": "Tom", "initials": "T", "orcid": "0000-0002-7253-3135", "researcher": {"href": "https://publications.scilifelab.se/researcher/2ae9aa653f874c2cb1c68a2deb9357b8.json"}}, {"family": "Parent", "given": "Audrey V", "initials": "AV", "orcid": "0000-0003-4506-6268", "researcher": {"href": "https://publications.scilifelab.se/researcher/553847cbdc524ebf9d064078ce5ea089.json"}}, {"family": "Liu", "given": "Xian", "initials": "X"}, {"family": "Cederholm", "given": "Axel", "initials": "A", "orcid": "0009-0006-5973-9637", "researcher": {"href": "https://publications.scilifelab.se/researcher/b2dffb2fd8e446d6a72c765602b97291.json"}}, {"family": "Gervais", "given": "Adrian", "initials": "A"}, {"family": "Rosain", "given": "J\u00e9r\u00e9mie", "initials": "J"}, {"family": "Nguyen", "given": "Tina", "initials": "T"}, {"family": "Perez Lorenzo", "given": "Malena", "initials": "M", "orcid": "0000-0002-7933-5211", "researcher": {"href": "https://publications.scilifelab.se/researcher/62baf0182c984c9081911a2c6b3b18c1.json"}}, {"family": "Rackaityte", "given": "Elze", "initials": "E", "orcid": "0000-0003-3889-8082", "researcher": {"href": "https://publications.scilifelab.se/researcher/8ceee85bd2034a1892d6cbf35b7003b1.json"}}, {"family": "Rinchai", "given": "Darawan", "initials": "D"}, {"family": "Zhang", "given": "Peng", "initials": "P", "orcid": "0000-0002-6129-567X", "researcher": {"href": "https://publications.scilifelab.se/researcher/20fcd31c47a940e8b72a8eb8d6e2a63b.json"}}, {"family": "Bizien", "given": "Lucy", "initials": "L"}, {"family": "Hancioglu", "given": "Gonca", "initials": "G", "orcid": "0000-0003-4221-6232", "researcher": {"href": "https://publications.scilifelab.se/researcher/3a9b9948d4114c17b7a86079fff8feb0.json"}}, {"family": "Ghillani-Dalbin", "given": "Pascale", "initials": "P"}, {"family": "Charuel", "given": "Jean-Luc", "initials": "JL"}, {"family": "Philippot", "given": "Quentin", "initials": "Q"}, {"family": "Gueye", "given": "Mame Sokhna", "initials": "MS", "orcid": "0000-0002-5533-7757", "researcher": {"href": "https://publications.scilifelab.se/researcher/6e4e7b2a590b40f7a49522746743a029.json"}}, {"family": "Maglorius Renkilaraj", "given": "Majistor Raj Luxman", "initials": "MRL"}, {"family": "Ogishi", "given": "Masato", "initials": "M"}, {"family": "Soud\u00e9e", "given": "Camille", "initials": "C"}, {"family": "Migaud", "given": "M\u00e9lanie", "initials": "M", "orcid": "0000-0003-3062-1214", "researcher": {"href": "https://publications.scilifelab.se/researcher/228bd855b47a47b3a04cfd7a72d6f24c.json"}}, {"family": "Rozenberg", "given": "Flore", "initials": "F"}, {"family": "Momenilandi", "given": "Mana", "initials": "M"}, {"family": "Riller", "given": "Quentin", "initials": "Q", "orcid": "0000-0003-3323-0235", "researcher": {"href": "https://publications.scilifelab.se/researcher/92e8a09e67774f298606f4397ae911c2.json"}}, {"family": "Imberti", "given": "Luisa", "initials": "L"}, {"family": "Delmonte", "given": "Ottavia M", "initials": "OM"}, {"family": "M\u00fcller", "given": "Gabriele", "initials": "G"}, {"family": "Keller", "given": "Baerbel", "initials": "B"}, {"family": "Orrego", "given": "Julio", "initials": "J"}, {"family": "Franco Gallego", "given": "William Alexander", "initials": "WA"}, {"family": "Rubin", "given": "Tamar", "initials": "T"}, {"family": "Emiroglu", "given": "Melike", "initials": "M", "orcid": "0000-0003-1307-0246", "researcher": {"href": "https://publications.scilifelab.se/researcher/4458505879f943fa948d8bfc1f3b720a.json"}}, {"family": "Parvaneh", "given": "Nima", "initials": "N", "orcid": "0000-0002-3397-9716", "researcher": {"href": "https://publications.scilifelab.se/researcher/0ab8606db2c74da596afbd69c7533fc5.json"}}, {"family": "Eriksson", "given": "Daniel", "initials": "D"}, {"family": "Aranda-Guillen", "given": "Maribel", "initials": "M", "orcid": "0000-0003-0050-704X", "researcher": {"href": "https://publications.scilifelab.se/researcher/65dc88b917274bc595daed855b63abab.json"}}, {"family": "Berrios", "given": "David I", "initials": "DI"}, {"family": "Vong", "given": "Linda", "initials": "L"}, {"family": "Katelaris", "given": "Constance H", "initials": "CH", "orcid": "0000-0002-4412-1336", "researcher": {"href": "https://publications.scilifelab.se/researcher/773927d559ac432482a70f05c3732bdd.json"}}, {"family": "Mustillo", "given": "Peter", "initials": "P"}, {"family": "Raedler", "given": "Johannes", "initials": "J", "orcid": "0000-0003-0979-7274", "researcher": {"href": "https://publications.scilifelab.se/researcher/d8b124502f704f57aa4c3a03a986e612.json"}}, {"family": "Bohlen", "given": "Jonathan", "initials": "J", "orcid": "0000-0003-0458-9484", "researcher": {"href": "https://publications.scilifelab.se/researcher/a740e67ef67a4958961dc5fbbf27c95f.json"}}, {"family": "Bengi Celik", "given": "Jale", "initials": "J"}, {"family": "Astudillo", "given": "Camila", "initials": "C"}, {"family": "Winter", "given": "Sarah", "initials": "S"}, {"family": "NF-\u03baB Consortium", "given": "", "initials": ""}, {"family": "COVID 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"https://publications.scilifelab.se/researcher/e9d3baa27411425a8b8f63f3c3230964.json"}}, {"family": "Zhang", "given": "Yu", "initials": "Y"}, {"family": "Rosen", "given": "Lindsey B", "initials": "LB"}, {"family": "Holland", "given": "Steve M", "initials": "SM", "orcid": "0000-0003-3207-5464", "researcher": {"href": "https://publications.scilifelab.se/researcher/4a22fc2635ad4265a82ae40602c502d9.json"}}, {"family": "Bosticardo", "given": "Marita", "initials": "M"}, {"family": "Kenney", "given": "Heather", "initials": "H"}, {"family": "Castagnoli", "given": "Riccardo", "initials": "R", "orcid": "0000-0003-0029-9383", "researcher": {"href": "https://publications.scilifelab.se/researcher/c3edb88b79604a85959ae5b97ca93f1c.json"}}, {"family": "Slade", "given": "Charlotte A", "initials": "CA"}, {"family": "Boztu\u011f", "given": "Kaan", "initials": "K"}, {"family": "Mahlaoui", "given": "Nizar", "initials": "N"}, {"family": "Latour", "given": "Sylvain", "initials": "S"}, {"family": "Abraham", "given": "Roshini S", "initials": "RS"}, {"family": "Lougaris", "given": "Vassilios", "initials": "V"}, {"family": "Hauck", "given": "Fabian", "initials": "F", "orcid": "0000-0001-9644-2003", "researcher": {"href": "https://publications.scilifelab.se/researcher/ae7796c771944fb6ba4f8aeb5537d0c2.json"}}, {"family": "Sediva", "given": "Anna", "initials": "A", "orcid": "0000-0001-7730-2304", "researcher": {"href": "https://publications.scilifelab.se/researcher/ed895922e0e543dd81d9fc1d8aaab496.json"}}, {"family": "Atschekzei", "given": "Faranaz", "initials": "F"}, {"family": "Sogkas", "given": "Georgios", "initials": "G"}, {"family": "Poli", "given": "M Cecilia", "initials": "MC", "orcid": "0000-0001-6817-0573", "researcher": {"href": "https://publications.scilifelab.se/researcher/845380b34c2541aca13852a9ebd8d1e2.json"}}, {"family": "Slatter", "given": "Mary A", "initials": "MA"}, {"family": "Palterer", "given": "Boaz", "initials": "B"}, {"family": "Keller", "given": "Michael D", "initials": "MD"}, {"family": "Pinzon-Charry", "given": "Alberto", "initials": "A"}, {"family": "Sullivan", "given": "Anna", "initials": "A"}, {"family": "Droney", "given": "Luke", "initials": "L", "orcid": "0000-0002-2126-8327", "researcher": {"href": "https://publications.scilifelab.se/researcher/48ee67a8ab9d4aad849e0142fca0d6ee.json"}}, {"family": "Suan", "given": "Daniel", "initials": "D"}, {"family": "Wong", "given": "Melanie", "initials": "M"}, {"family": "Kane", "given": "Alisa", "initials": "A"}, {"family": "Hu", "given": "Hannah", "initials": "H"}, {"family": "Ma", "given": "Cindy", "initials": "C", "orcid": "0000-0001-5387-8413", "researcher": {"href": "https://publications.scilifelab.se/researcher/398f17ef657242a1a091b04d05388cf9.json"}}, {"family": "Grombi\u0159\u00edkov\u00e1", "given": "Hana", "initials": "H", "orcid": "0000-0002-9317-8531", "researcher": {"href": "https://publications.scilifelab.se/researcher/049dc5e637df4577927e2ff1483ab5eb.json"}}, {"family": "Ciznar", "given": "Peter", "initials": "P", "orcid": "0000-0003-0566-1644", "researcher": {"href": "https://publications.scilifelab.se/researcher/3c31f220a302455994db57ce8bc34d3d.json"}}, {"family": "Dalal", "given": "Ilan", "initials": "I"}, {"family": "Aladjidi", "given": "Nathalie", "initials": "N"}, {"family": "Hie", "given": "Miguel", "initials": "M"}, {"family": "Lazaro", "given": "Estibaliz", "initials": "E", "orcid": "0000-0002-4206-7399", "researcher": {"href": "https://publications.scilifelab.se/researcher/307b87ae02984fd7a652ed511d029a8a.json"}}, {"family": "Franco", "given": "Jose", "initials": "J", "orcid": "0000-0001-5664-6415", "researcher": {"href": "https://publications.scilifelab.se/researcher/d0b90161f1ac434caa648101eae0a93f.json"}}, {"family": "Keles", "given": "Sevgi", "initials": "S", "orcid": "0000-0001-7344-8947", "researcher": {"href": "https://publications.scilifelab.se/researcher/0b137fd96c0842288b660de7b4e0dfa7.json"}}, {"family": "Malphettes", "given": "Marion", "initials": "M"}, {"family": "Pasquet", "given": "Marlene", "initials": "M"}, {"family": "Maccari", "given": "Maria Elena", "initials": "ME"}, {"family": "Meinhardt", "given": "Andrea", "initials": "A", "orcid": "0000-0002-7464-0751", "researcher": {"href": "https://publications.scilifelab.se/researcher/42c39e0a964c4c748bea6ab43c9723b3.json"}}, {"family": "Ikinciogullari", "given": "Aydan", "initials": "A"}, {"family": "Shahrooei", "given": "Mohammad", "initials": "M"}, {"family": "Celmeli", "given": "Fatih", "initials": "F", "orcid": "0000-0002-2983-5058", "researcher": {"href": "https://publications.scilifelab.se/researcher/d10a5e911d694b9690bab499e0bbef99.json"}}, {"family": "Frosk", "given": "Patrick", "initials": "P"}, {"family": "Goodnow", "given": "Christopher C", "initials": "CC", "orcid": "0000-0001-5296-6155", "researcher": {"href": "https://publications.scilifelab.se/researcher/a4783c37a1ac4d528841846dbdbcc05c.json"}}, {"family": "Gray", "given": "Paul E", "initials": "PE", "orcid": "0000-0003-2057-3968", "researcher": {"href": "https://publications.scilifelab.se/researcher/b5eca9282b664b5bbcc3510efc31c578.json"}}, {"family": "Belot", "given": "Alexandre", "initials": "A", "orcid": "0000-0003-4902-5332", "researcher": {"href": "https://publications.scilifelab.se/researcher/155056471c474a8ca255b7cefd8c5cad.json"}}, {"family": "Kuehn", "given": "Hye Sun", "initials": "HS"}, {"family": "Rosenzweig", "given": "Sergio D", "initials": "SD"}, {"family": "Miyara", "given": "Makoto", "initials": "M"}, {"family": "Licciardi", "given": "Francesco", "initials": "F"}, {"family": "Servettaz", "given": "Am\u00e9lie", "initials": "A"}, {"family": "Barlogis", "given": "Vincent", "initials": "V"}, {"family": "Le Guenno", "given": "Guillaume", "initials": "G"}, {"family": "Herrmann", "given": "Vera-Maria", "initials": "VM"}, {"family": "Kuijpers", "given": "Taco", "initials": "T"}, {"family": "Ducoux", "given": "Gr\u00e9goire", "initials": "G"}, {"family": "Sarrot-Reynauld", "given": "Fran\u00e7oise", "initials": "F"}, {"family": "Schuetz", "given": "Catharina", "initials": "C"}, {"family": "Cunningham-Rundles", "given": "Charlotte", "initials": "C", "orcid": "0000-0003-0725-0320", "researcher": {"href": "https://publications.scilifelab.se/researcher/6f191aed462e40dba62ed32a771bbb0f.json"}}, {"family": "Rieux-Laucat", "given": "Fr\u00e9d\u00e9ric", "initials": "F", "orcid": "0000-0001-7858-7866", "researcher": {"href": "https://publications.scilifelab.se/researcher/abbce991c33c4908a575c148214fcc67.json"}}, {"family": "Tangye", "given": "Stuart G", "initials": "SG", "orcid": "0000-0002-5360-5180", "researcher": {"href": "https://publications.scilifelab.se/researcher/1e3fa03cfc304a8aa0262e5f8c51665d.json"}}, {"family": "Sobacchi", "given": "Cristina", "initials": "C"}, {"family": "Doffinger", "given": "Rainer", "initials": "R"}, {"family": "Warnatz", "given": "Klaus", "initials": "K"}, {"family": "Grimbacher", "given": "Bodo", "initials": "B"}, {"family": "Fieschi", "given": "Claire", "initials": "C"}, {"family": "Berteloot", "given": "Laureline", "initials": "L", "orcid": "0000-0001-9681-3142", "researcher": {"href": "https://publications.scilifelab.se/researcher/fa0ce699420749dc97617accb080b2e8.json"}}, {"family": "Bryant", "given": "Vanessa L", "initials": "VL"}, {"family": "Trouillet Assant", "given": "Sophie", "initials": "S"}, {"family": "Su", "given": "Helen", "initials": "H", "orcid": "0000-0002-5582-9110", "researcher": {"href": "https://publications.scilifelab.se/researcher/5f3b00f2707541b39b2205d70fd2d6f7.json"}}, {"family": "Neven", "given": "Benedicte", "initials": "B"}, {"family": "Abel", "given": "Laurent", "initials": "L"}, {"family": "Zhang", "given": "Qian", "initials": "Q"}, {"family": "Boisson", "given": "Bertrand", "initials": "B", "orcid": "0000-0001-5240-3555", "researcher": {"href": "https://publications.scilifelab.se/researcher/e7c47acbcc3346bcb65102b534b25cc8.json"}}, {"family": "Cobat", "given": "Aur\u00e9lie", "initials": "A", "orcid": "0000-0001-7209-6257", "researcher": {"href": "https://publications.scilifelab.se/researcher/eaba2f9452294eec89161b589d96ff29.json"}}, {"family": "Jouanguy", "given": "Emmanuelle", "initials": "E"}, {"family": "Kampe", "given": "Olle", "initials": "O", "orcid": "0000-0001-6091-9914", "researcher": {"href": "https://publications.scilifelab.se/researcher/2c547dc809a14cdaa47b623cf638162b.json"}}, {"family": "Bastard", "given": "Paul", "initials": "P"}, {"family": "Roifman", "given": "Chaim M", "initials": "CM"}, {"family": "Landegren", "given": "Nils", "initials": "N"}, {"family": "Notarangelo", "given": "Luigi D", "initials": "LD", "orcid": "0000-0002-8335-0262", "researcher": {"href": "https://publications.scilifelab.se/researcher/d8d346e44c2d443ba3da3fcf2725b96c.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"}}, {"family": "Puel", "given": "Anne", "initials": "A", "orcid": "0000-0003-2603-0323", "researcher": {"href": "https://publications.scilifelab.se/researcher/3bcef4c205904e5db9e36f3aadaa13bb.json"}}], "type": "journal article", "published": "2023-11-00", "journal": {"title": "Nature", "issn": "1476-4687", "volume": "623", "issue": "7988", "pages": "803-813", "issn-l": "0028-0836"}, "abstract": "Patients with autoimmune polyendocrinopathy syndrome type 1 (APS-1) caused by autosomal recessive AIRE deficiency produce autoantibodies that neutralize type I interferons (IFNs)1,2, conferring a predisposition to life-threatening COVID-19 pneumonia3. Here we report that patients with autosomal recessive NIK or RELB deficiency, or a specific type of autosomal-dominant NF-\u03baB2 deficiency, also have neutralizing autoantibodies against type I IFNs and are at higher risk of getting life-threatening COVID-19 pneumonia. In patients with autosomal-dominant NF-\u03baB2 deficiency, these autoantibodies are found only in individuals who are heterozygous for variants associated with both transcription (p52 activity) loss of function (LOF) due to impaired p100 processing to generate p52, and regulatory (I\u03baB\u03b4 activity) gain of function (GOF) due to the accumulation of unprocessed p100, therefore increasing the inhibitory activity of I\u03baB\u03b4 (hereafter, p52LOF/I\u03baB\u03b4GOF). By contrast, neutralizing autoantibodies against type I IFNs are not found in individuals who are heterozygous for NFKB2 variants causing haploinsufficiency of p100 and p52 (hereafter, p52LOF/I\u03baB\u03b4LOF) or gain-of-function of p52 (hereafter, p52GOF/I\u03baB\u03b4LOF). In contrast to patients with APS-1, patients with disorders of NIK, RELB or NF-\u03baB2 have very few tissue-specific autoantibodies. However, their thymuses have an abnormal structure, with few AIRE-expressing medullary thymic epithelial cells. Human inborn errors of the alternative NF-\u03baB pathway impair the development of AIRE-expressing medullary thymic epithelial cells, thereby underlying the production of autoantibodies against type I IFNs and predisposition to viral diseases.", "doi": "10.1038/s41586-023-06717-x", "pmid": "37938781", "labels": {"Autoimmunity and Serology Profiling": "Service", "Clinical Genomics Stockholm": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC10665196"}, {"db": "pii", "key": "10.1038/s41586-023-06717-x"}], "notes": [], "created": "2023-11-16T13:27:25.515Z", "modified": "2024-11-28T18:23:58.185Z"}, {"entity": "publication", "iuid": "070b694696014ed78f1f2be943ae1025", "links": {"self": {"href": "https://publications.scilifelab.se/publication/070b694696014ed78f1f2be943ae1025.json"}, "display": {"href": "https://publications.scilifelab.se/publication/070b694696014ed78f1f2be943ae1025"}}, "title": "Relation between HLA and copy number variation of steroid 21-hydroxylase in a Swedish cohort of patients with autoimmune Addison's disease.", "authors": [{"family": "Lundtoft", "given": "Christian", "initials": "C", "orcid": "0000-0001-5872-4253", "researcher": {"href": "https://publications.scilifelab.se/researcher/4a05532d3aad4e2dbe00a4724e8dddd8.json"}}, {"family": "Eriksson", "given": "Daniel", "initials": "D"}, {"family": "Bianchi", "given": "Matteo", "initials": "M"}, {"family": "Aranda-Guill\u00e9n", "given": "Maribel", "initials": "M"}, {"family": "Landegren", "given": "Nils", "initials": "N"}, {"family": "Rantap\u00e4\u00e4-Dahlqvist", "given": "Solbritt", "initials": "S", "orcid": "0000-0001-8259-3863", "researcher": {"href": "https://publications.scilifelab.se/researcher/dfca4bfdcf3946fda64397d3b7debc59.json"}}, {"family": "S\u00f6derkvist", "given": "Peter", "initials": "P"}, {"family": "Meadows", "given": "Jennifer R S", "initials": "JRS"}, {"family": "Consortium", "given": "DISSECT", "initials": "D"}, {"family": ",,", "given": "", "initials": ""}, {"family": "Consortium", "given": "ImmunoArray", "initials": "I"}, {"family": ",,", "given": "", "initials": ""}, {"family": "Group", "given": "Swedish Addison Registry Study", "initials": "SARS"}, {"family": ",,", "given": "", "initials": ""}, {"family": "Bensing", "given": "Sophie", "initials": "S", "orcid": "0000-0002-9193-2860", "researcher": {"href": "https://publications.scilifelab.se/researcher/acae2ad8ca844588b2b850c863034b7b.json"}}, {"family": "Pielberg", "given": "Gerli Rosengren", "initials": "GR"}, {"family": "Lindblad-Toh", "given": "Kerstin", "initials": "K"}, {"family": "R\u00f6nnblom", "given": "Lars", "initials": "L"}, {"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": "2023-08-02", "journal": {"title": "Eur. J. Endocrinol.", "issn": "1479-683X", "issn-l": "0804-4643", "volume": "189", "issue": "2", "pages": "235-241"}, "abstract": "Autoantibodies against the adrenal enzyme 21-hydroxylase is a hallmark manifestation in autoimmune Addison's disease (AAD). Steroid 21-hydroxylase is encoded by CYP21A2, which is located in the human leucocyte antigen (HLA) region together with the highly similar pseudogene CYP21A1P. A high level of copy number variation is seen for the 2 genes, and therefore, we asked whether genetic variation of the CYP21 genes is associated with AAD.\r\n\r\nCase-control study on patients with AAD and healthy controls.\r\n\r\nUsing next-generation DNA sequencing, we estimated the copy number of CYP21A2 and CYP21A1P, together with HLA alleles, in 479 Swedish patients with AAD and autoantibodies against 21-hydroxylase and in 1393 healthy controls.\r\n\r\nWith 95% of individuals carrying 2 functional 21-hydroxylase genes, no difference in CYP21A2 copy number was found when comparing patients and controls. In contrast, we discovered a lower copy number of the pseudogene CYP21A1P among AAD patients (P = 5 \u00d7 10-44), together with associations of additional nucleotide variants, in the CYP21 region. However, the strongest association was found for HLA-DQB1*02:01 (P = 9 \u00d7 10-63), which, in combination with the DRB1*04:04-DQB1*03:02 haplotype, imposed the greatest risk of AAD.\r\n\r\nWe identified strong associations between copy number variants in the CYP21 region and risk of AAD, although these associations most likely are due to linkage disequilibrium with disease-associated HLA class II alleles.", "doi": "10.1093/ejendo/lvad102", "pmid": "37553728", "labels": {"NGI Short read": "Service", "NGI Uppsala (SNP&SEQ Technology Platform)": "Service", "National Genomics Infrastructure": "Service", "NGI SNP genotyping": "Service", "Bioinformatics Support for Computational Resources": "Service"}, "xrefs": [{"db": "pii", "key": "7239340"}], "notes": [], "created": "2023-11-27T21:51:56.107Z", "modified": "2024-01-16T13:48:32.542Z"}, {"entity": "publication", "iuid": "b9461e2dab3c45d891518478219868dd", "links": {"self": {"href": "https://publications.scilifelab.se/publication/b9461e2dab3c45d891518478219868dd.json"}, "display": {"href": "https://publications.scilifelab.se/publication/b9461e2dab3c45d891518478219868dd"}}, "title": "Three Adult Cases of STAT1 Gain-of-Function with Chronic Mucocutaneous Candidiasis Treated with JAK Inhibitors.", "authors": [{"family": "Borgstr\u00f6m", "given": "Emilie W", "initials": "EW", "orcid": "0000-0002-4269-5475", "researcher": {"href": "https://publications.scilifelab.se/researcher/4833a08012f642b098ba90c88ae74e3d.json"}}, {"family": "Edvinsson", "given": "Marie", "initials": "M"}, {"family": "P\u00e9rez", "given": "Luc\u00eda P", "initials": "LP"}, {"family": "Norlin", "given": "Anna C", "initials": "AC", "orcid": "0000-0001-5503-1689", "researcher": {"href": "https://publications.scilifelab.se/researcher/3c0fe142669148538fd228de442b87a2.json"}}, {"family": "Enoksson", "given": "Sara L", "initials": "SL"}, {"family": "Hansen", "given": "Susanne", "initials": "S"}, {"family": "Fasth", "given": "Anders", "initials": "A", "orcid": "0000-0002-0033-740X", "researcher": {"href": "https://publications.scilifelab.se/researcher/57576e445b0844f287e58d868dd22574.json"}}, {"family": "Friman", "given": "Vanda", "initials": "V"}, {"family": "K\u00e4mpe", "given": "Olle", "initials": "O", "orcid": "0000-0001-6091-9914", "researcher": {"href": "https://publications.scilifelab.se/researcher/2c547dc809a14cdaa47b623cf638162b.json"}}, {"family": "M\u00e5nsson", "given": "Robert", "initials": "R", "orcid": "0000-0003-0738-0328", "researcher": {"href": "https://publications.scilifelab.se/researcher/eafa5ad22891454298bf31a94d77175f.json"}}, {"family": "Estupi\u00f1\u00e1n", "given": "Hernando Y", "initials": "HY"}, {"family": "Wang", "given": "Qing", "initials": "Q"}, {"family": "Ziyang", "given": "Tan", "initials": "T"}, {"family": "Lakshmikanth", "given": "Tadepally", "initials": "T", "orcid": "0000-0001-7256-5770", "researcher": {"href": "https://publications.scilifelab.se/researcher/92e81aa6b0cf4ff0a18b14098bf0fcc1.json"}}, {"family": "Smith", "given": "Carl Inge E", "initials": "CIE", "orcid": "0000-0003-1907-3392", "researcher": {"href": "https://publications.scilifelab.se/researcher/b3ea998a87b44c218f91701cf3019af1.json"}}, {"family": "Brodin", "given": "Petter", "initials": "P", "orcid": "0000-0002-8103-0046", "researcher": {"href": "https://publications.scilifelab.se/researcher/40097353cdb24e52bf2330eb687042bf.json"}}, {"family": "Bergman", "given": "Peter", "initials": "P", "orcid": "0000-0003-3306-3713", "researcher": {"href": "https://publications.scilifelab.se/researcher/397d11713c80456bb600b1e4c88ff843.json"}}], "type": "journal article", "published": "2023-01-00", "journal": {"title": "J Clin Immunol", "issn": "1573-2592", "volume": "43", "issue": "1", "pages": "136-150", "issn-l": "0271-9142"}, "abstract": "The aim of this study was to characterize clinical effects and biomarkers in three patients with chronic mucocutaneous candidiasis (CMC) caused by gain-of-function (GOF) mutations in the STAT1 gene during treatment with Janus kinase (JAK) inhibitors.\n\nMass cytometry (CyTOF) was used to characterize mononuclear leukocyte populations and Olink assay to quantify 265 plasma proteins. Flow-cytometric Assay for Specific Cell-mediated Immune-response in Activated whole blood (FASCIA) was used to quantify the reactivity against Candida albicans.\n\nOverall, JAK inhibitors improved clinical symptoms of CMC, but caused side effects in two patients. Absolute numbers of neutrophils, T cells, B cells, and NK cells were sustained during baricitinib treatment. Detailed analysis of cellular subsets, using CyTOF, revealed increased expression of CD45, CD52, and CD99 in NK cells, reflecting a more functional phenotype. Conversely, monocytes and eosinophils downregulated CD16, consistent with reduced inflammation. Moreover, T and B cells showed increased expression of activation markers during treatment. In one patient with a remarkable clinical effect of baricitinib treatment, the immune response to C. albicans increased after 7 weeks of treatment. Alterations in plasma biomarkers involved downregulation of cellular markers CXCL10, annexin A1, granzyme B, granzyme H, and oncostatin M, whereas FGF21 was the only upregulated marker after 7 weeks. After 3 months, IFN-\u0263 and CXCL10 were downregulated.\n\nThe clinical effect of JAK inhibitor treatment of CMC is promising. Several biological variables were altered during baricitinib treatment demonstrating that lymphocytes, NK cells, monocytes, and eosinophils were affected. In parallel, cellular reactivity against C. albicans was enhanced.", "doi": "10.1007/s10875-022-01351-0", "pmid": "36050429", "labels": {"Cellular Immunomonitoring": "Collaborative", "Clinical Genomics Stockholm": "Service", "Bioinformatics Support for Computational Resources": "Service", "Clinical Genomics": "Service"}, "xrefs": [{"db": "pmc", "key": "PMC9840596"}, {"db": "pii", "key": "10.1007/s10875-022-01351-0"}], "notes": [], "created": "2022-09-04T08:15:08.566Z", "modified": "2024-01-16T13:48:34.251Z"}, {"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": "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"}]}