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"Christine", "initials": "C", "orcid": "0000-0001-8772-0905", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4db7795f865b46a696cad7db16b546cd.json"}}, {"family": "Bustamante", "given": "Jacinta", "initials": "J", "orcid": "0000-0002-3439-2482", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/aa1b61228ab64930a29bc9fe49a40138.json"}}, {"family": "Luche", "given": "Herv\u00e9", "initials": "H", "orcid": "0000-0003-4309-8338", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/4aba83e74dd7487cb6aba12c75a83073.json"}}, {"family": "Puel", "given": "Anne", "initials": "A", "orcid": "0000-0003-2603-0323", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/d106604b8ad84e67870302b906a94963.json"}}, {"family": "Courtois", "given": "Gilles", "initials": "G", "orcid": "0000-0003-3117-9595", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/8d800d0c43d8408aa0a1fb8be4934597.json"}}, {"family": "Bastard", "given": "Paul", "initials": "P", "orcid": "0000-0002-5926-8437", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/beec83103d55467291f2b8c160df3a04.json"}}, {"family": "Landegren", "given": "Nils", "initials": "N", "orcid": "0000-0002-6163-9540", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/6765f1617f51434baf93e4683965f03a.json"}}, {"family": "Anderson", "given": "Mark S", "initials": "MS", "orcid": "0000-0002-3093-4758", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/2a3782bf0dc24d309281bd1841ebb08a.json"}}, {"family": "Casanova", "given": "Jean-Laurent", "initials": "JL", "orcid": "0000-0002-7782-4169", "researcher": {"href": "https://publications-affiliated.scilifelab.se/researcher/264335517ad94440b23a027fe66f767d.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": [], "xrefs": [{"db": "pmc", "key": "PMC11448874"}, {"db": "pii", "key": "277003"}], "notes": [], "created": "2026-09-23T09:08:58.816Z", "modified": "2026-09-23T09:09:02.880Z"}]}