Academic Journal
Nuclear Factor Kappa B (NF-κB)1 and NF-κB2 Deficiency: An Unpredictable Defect With Wide Clinical and Immunologic Phenotype.
| Τίτλος: | Nuclear Factor Kappa B (NF-κB)1 and NF-κB2 Deficiency: An Unpredictable Defect With Wide Clinical and Immunologic Phenotype. |
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| Συγγραφείς: | Sevinç S; Department of Pediatric Immunology and Allergy, Ankara University Faculty of Medicine, Ankara, Türkiye., İslamoğlu C; Department of Pediatric Immunology and Allergy, Ankara University Faculty of Medicine, Ankara, Türkiye., Haskoloğlu Ş; Department of Pediatric Immunology and Allergy, Ankara University Faculty of Medicine, Ankara, Türkiye., Öztürk G; Department of Pediatric Immunology and Allergy, Ankara University Faculty of Medicine, Ankara, Türkiye., Bal SK; Department of Pediatric Immunology and Allergy, Gülhane Training and Research Hospital, Ankara, Türkiye., Aslan AD; Department of Pediatric Intensive Care, Ankara University Faculty of Medicine, Ankara, Türkiye., Şahap SK; Department of Pediatric Radiology, Ankara University Faculty of Medicine, Ankara, Türkiye., Ersöz CC; Department of Pathology, Ankara University Faculty of Medicine, Ankara, Türkiye., Kendirli T; Department of Pediatric Intensive Care, Ankara University Faculty of Medicine, Ankara, Türkiye., Doğu F; Department of Pediatric Immunology and Allergy, Ankara University Faculty of Medicine, Ankara, Türkiye., İkincioğulları A; Department of Pediatric Immunology and Allergy, Ankara University Faculty of Medicine, Ankara, Türkiye. |
| Πηγή: | Scandinavian journal of immunology [Scand J Immunol] 2026 Sep; Vol. 104 (3), pp. e70142. |
| Τύπος έκδοσης: | Journal Article |
| Γλώσσα: | English |
| Στοιχεία περιοδικού: | Publisher: Blackwell Scientific Publications Country of Publication: England NLM ID: 0323767 Publication Model: Print Cited Medium: Internet ISSN: 1365-3083 (Electronic) Linking ISSN: 03009475 NLM ISO Abbreviation: Scand J Immunol Subsets: MEDLINE |
| Imprint Name(s): | Publication: Oxford : Blackwell Scientific Publications Original Publication: Oslo, Universitetsforlaget. |
| Ιατρικοί όροι (MeSH): | Common Variable Immunodeficiency*/genetics , Common Variable Immunodeficiency*/immunology , Immunologic Deficiency Syndromes*/genetics , NF-kappa B p50 Subunit*/genetics , NF-kappa B p50 Subunit*/deficiency , NF-kappa B p50 Subunit*/immunology , NF-kappa B p52 Subunit*/deficiency , NF-kappa B p52 Subunit*/genetics , NF-kappa B p52 Subunit*/immunology, Mutation/genetics ; Humans ; Phenotype ; Signal Transduction |
| Περίληψη: | The Nuclear Factor Kappa B (NF-kB) signalling pathway is essential for regulating inflammation, cell survival, and adaptive immune responses through its canonical (NF-κB1-associated) and noncanonical (NF-κB2-associated) 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-cell maturation including germinal centre activity, T-cell differentiation, thymic selection and antiviral defence. NF-κB transcription factors consist of five subunits: NF-kB1 (p105/p50), NF-kB2 (p100/p52), RelA, RelB and c-Rel-and 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-Barr virus-related 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-κB-related inborn errors of immunity, the phenotypic spectrum continues to expand and genotype-phenotype 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. (© 2026 The Scandinavian Foundation for Immunology.) |
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| Contributed Indexing: | Keywords: NFKB1 deficiency; NFKB2 deficiency; autosomal dominant; common variable immunodeficiency; inborn errors of immunity; nuclear factor kappa B |
| Substance Nomenclature: | 0 (NF-kappa B p50 Subunit) 0 (NF-kappa B p52 Subunit) 0 (NFKB1 protein, human) 0 (NFKB2 protein, human) |
| Entry Date(s): | Date Created: 20260821 Date Completed: 20260821 Latest Revision: 20260907 |
| Update Code: | 20260907 |
| PubMed Central ID: | PMC13494057 |
| DOI: | 10.1111/sji.70142 |
| PMID: | 42625294 |
| Βάση Δεδομένων: | MEDLINE |
| ISSN: | 1365-3083 |
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| DOI: | 10.1111/sji.70142 |