{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T11:57:20Z","timestamp":1781006240779,"version":"3.54.1"},"reference-count":48,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T00:00:00Z","timestamp":1780963200000},"content-version":"vor","delay-in-days":159,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Inborn errors of immunity (IEIs) affecting the NF\u2010\u03baB pathway impair innate and\/or adaptive immune responses and may present with or without developmental abnormalities. In this review, we summarize our recent findings from two studies. Monoallelic variants in the\n                    <jats:italic>RELA<\/jats:italic>\n                    gene that result in haploinsufficiency have been linked to tumor necrosis factor\u2010dependent chronic mucosal ulcers and autoimmune cytopenias. However, we have identified a novel form of IEIs caused by dominant\u2013negative\n                    <jats:italic>RELA<\/jats:italic>\n                    mutations, which lead to chronic mucocutaneous ulcerations accompanied by additional autoinflammatory and autoimmune features. Notably, patients exhibit increased expression of Toll\u2010like receptor 7 (TLR7) and MYD88 mRNA in both plasmacytoid dendritic cells and non\u2010plasmacytoid myeloid dendritic cells, resulting in heightened TLR7\u2010mediated production of type I interferons (IFNs). This study provides a mechanistic link between previously distinct groups of IEIs: those involving the NF\u2010\u03baB pathway and those classified as type I interferonopathies. RelB is a critical molecule involved in immune regulation through the non\u2010canonical NF\u2010\u03baB pathway. We describe two families with RelB deficiency caused by novel variants, and we performed detailed functional analyses. As a result, inherited human RelB deficiency disrupts the non\u2010canonical NF\u2010\u03baB pathway, underlying a T\u2010 and B cell immunodeficiency, which, together with neutralizing autoantibodies against type I IFNs, confers a predisposition to viral, bacterial, and fungal infections.\n                  <\/jats:p>","DOI":"10.1111\/ped.70424","type":"journal-article","created":{"date-parts":[[2026,6,9]],"date-time":"2026-06-09T10:56:52Z","timestamp":1781002612000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Inborn Errors of Immunity in the\n                    <scp>NF<\/scp>\n                    \u2010\n                    <scp>\u03baB<\/scp>\n                    Pathway"],"prefix":"10.1111","volume":"68","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0418-5132","authenticated-orcid":false,"given":"Kunihiko","family":"Moriya","sequence":"first","affiliation":[{"name":"Department of Pediatrics National Defense Medical College  Saitama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,6,9]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"crossref","DOI":"10.70962\/jhi.20250003","article-title":"Human Inborn Errors of Immunity: 2024 Update on the Classification From the International Union of Immunological Societies Expert Committee","volume":"1","author":"Poli M. 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