Academic Journal
NF-κB1 haploinsufficiency due to a novel c.104delT variant in two patients with common variable immunodeficiency.
| Τίτλος: | NF-κB1 haploinsufficiency due to a novel c.104delT variant in two patients with common variable immunodeficiency. |
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| Συγγραφείς: | Bylica J; Department of Rheumatology, Immunology and Internal Medicine, University Hospital, Kraków, Poland. Electronic address: jan.bylica@alumni.uj.edu.pl., Karpiński M; Haematological Diagnostics and Genetics Unit, University Hospital, Kraków, Poland., Korkosz M; Department of Rheumatology, Immunology and Internal Medicine, University Hospital, Kraków, Poland; Department of Rheumatology and Immunology, Medical College, Jagiellonian University Medical College, Kraków, Poland., Kosałka-Węgiel J; Department of Rheumatology, Immunology and Internal Medicine, University Hospital, Kraków, Poland; Department of Rheumatology and Immunology, Medical College, Jagiellonian University Medical College, Kraków, Poland. |
| Πηγή: | Clinical immunology (Orlando, Fla.) [Clin Immunol] 2026 Jun; Vol. 285, pp. 110703. Date of Electronic Publication: 2026 Mar 30. |
| Τύπος έκδοσης: | Journal Article; Case Reports |
| Γλώσσα: | English |
| Στοιχεία περιοδικού: | Publisher: Academic Press Country of Publication: United States NLM ID: 100883537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1521-7035 (Electronic) Linking ISSN: 15216616 NLM ISO Abbreviation: Clin Immunol Subsets: MEDLINE |
| Imprint Name(s): | Original Publication: Orlando, FL : Academic Press, c1999- |
| Ιατρικοί όροι (MeSH): | Common Variable Immunodeficiency*/genetics , Common Variable Immunodeficiency*/immunology , NF-kappa B p50 Subunit*/genetics , Haploinsufficiency*/genetics, Humans ; Female ; Young Adult ; Adult |
| Περίληψη: | Common variable immunodeficiency (CVID) is the most frequent clinically relevant inborn error of immunity. Genetic defects can be identified in one-third of cases. The identification of novel mutations remains crucial for understanding disease mechanisms and genotype-phenotype correlations. We report a 19-year-old female with recurrent infections, hepatomegaly, and lymphadenopathy that began one year before the assessment. Laboratory evaluation revealed neutropenia, lymphopenia, anemia, thrombocytopenia, hypogammaglobulinemia, and a reduced percentage of switched memory B cells. Next-generation sequencing identified a previously unreported NFKB1 c.104delT nonsense mutation and a heterozygous CFTR F508del variant. The patient's mother also exhibited recurrent infections, anemia, hypogammaglobulinemia, and a low percentage of switched memory B cells, which started when she was 25 years old. Genetic testing revealed the same NFKB1 mutation. The identified NFKB1 variant has not been described in available databases. The predicted loss-of-function effect, along with the patients' phenotypes, supports its pathogenic relevance. This report expands the mutational spectrum of NFKB1 and underscores the importance of detailed genetic assessment in patients with immunodeficiency and immune dysregulation. (Copyright © 2026 Elsevier Inc. All rights reserved.) |
| Competing Interests: | Declaration of competing interest None. |
| Contributed Indexing: | Keywords: Common variable immunodeficiency (CVID); Hypogammaglobulinemia; Inborn error of immunity; NFKB1; Nuclear factor k light-chain enhancer of activated B cells (NFκB); Primary immunodeficiency |
| Substance Nomenclature: | 0 (NF-kappa B p50 Subunit) 0 (NFKB1 protein, human) |
| Entry Date(s): | Date Created: 20260401 Date Completed: 20260714 Latest Revision: 20260804 |
| Update Code: | 20260805 |
| DOI: | 10.1016/j.clim.2026.110703 |
| PMID: | 41921718 |
| Βάση Δεδομένων: | MEDLINE |
| ISSN: | 1521-7035 |
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| DOI: | 10.1016/j.clim.2026.110703 |