{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T05:06:59Z","timestamp":1790140019501,"version":"4.0.1"},"reference-count":14,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T00:00:00Z","timestamp":1787184000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T00:00:00Z","timestamp":1787184000000},"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":["Scand J Immunol"],"published-print":{"date-parts":[[2026,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>The Nuclear Factor Kappa B (NF\u2010kB) signalling pathway is essential for regulating inflammation, cell survival, and adaptive immune responses through its canonical (NF\u2010\u03baB1\u2010associated) and noncanonical (NF\u2010\u03baB2\u2010associated) branches. The canonical pathway mediates rapid and broad reactions to immune stimuli, whereas the noncanonical pathway is activated by specific signals and contributes to lymphoid organ development, B\u2010cell maturation including germinal centre activity, T\u2010cell differentiation, thymic selection and antiviral defence. NF\u2010\u03baB transcription factors consist of five subunits: NF\u2010kB1 (p105\/p50), NF\u2010kB2 (p100\/p52), RelA, RelB and c\u2010Rel\u2014and heterozygous variants in NFKB1 or NFKB2 genes result in a wide range of immune dysregulation. NFKB1 mutations have been associated with common variable immunodeficiency, autoinflammatory or rheumatologic manifestations, Epstein\u2013Barr virus\u2013related lymphoproliferation, gastrointestinal involvement and susceptibility to recurrent or opportunistic infections. Clinical features of NFKB2 deficiency show considerable variability depending on mutation location, but recurrent infections and hypogammaglobulinemia remain the most frequently reported findings. Despite growing recognition of NF\u2010\u03baB\u2013related inborn errors of immunity, the phenotypic spectrum continues to expand and genotype\u2013phenotype correlations remain challenging. In this study, we describe seven individuals from five families with NFKB1 or NFKB2 variants and demonstrate considerable clinical and immunological heterogeneity, including marked intrafamilial variability.<\/jats:p>","DOI":"10.1111\/sji.70142","type":"journal-article","created":{"date-parts":[[2026,8,21]],"date-time":"2026-08-21T04:34:33Z","timestamp":1787286873000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Nuclear Factor Kappa B (\n                    <scp>NF<\/scp>\n                    \u2010\n                    <scp>\u03baB<\/scp>\n                    )1 and\n                    <scp>NF<\/scp>\n                    \u2010\n                    <scp>\u03baB2<\/scp>\n                    Deficiency: An Unpredictable Defect With Wide Clinical and Immunologic Phenotype"],"prefix":"10.1111","volume":"104","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1001-7255","authenticated-orcid":false,"given":"Selin","family":"Sevin\u00e7","sequence":"first","affiliation":[{"name":"Department of Pediatric Immunology and Allergy Ankara University Faculty of Medicine  Ankara T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8177-9348","authenticated-orcid":false,"given":"Candan","family":"\u0130slamo\u011flu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Immunology and Allergy Ankara University Faculty of Medicine  Ankara T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2668-0441","authenticated-orcid":false,"given":"\u015eule","family":"Haskolo\u011flu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Immunology and Allergy Ankara University Faculty of Medicine  Ankara 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Ankara T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1283-9543","authenticated-orcid":false,"given":"Seda Kaynak","family":"\u015eahap","sequence":"additional","affiliation":[{"name":"Department of Pediatric Radiology Ankara University Faculty of Medicine  Ankara T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4961-6159","authenticated-orcid":false,"given":"Cevriye Cans\u0131z","family":"Ers\u00f6z","sequence":"additional","affiliation":[{"name":"Department of Pathology Ankara University Faculty of Medicine  Ankara T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9458-2803","authenticated-orcid":false,"given":"Tan\u0131l","family":"Kendirli","sequence":"additional","affiliation":[{"name":"Department of Pediatric Intensive Care Ankara University Faculty of Medicine  Ankara 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