Novel heterozygous mutation in NFKB2 in a patient with predominantly antibody deficiency
Abstract
Background: The Nuclear Factor-kappa B (NF-kB) signaling pathway plays a critical role in regulating a wide range of cellular processes such as immune function, inflammation, and tumor regulation. There are two major pathways that play a role in NF-kB activation: the canonical NF-kB1 pathway and the non-canonical NF-kB2 pathway. Abnormalities in non-canonical NF-κB2 signaling are linked with significant impairments in the immune system, mainly B cell maturation, antibody production, as well as T helper and regulatory T cell function through its effect on germinal center regulation.
Methods: Our patient’s medical record was analyzed retrospectively, including her medical history, results from immune laboratory tests, and genetic analyses.
Results: We present a 16-year-old female with a history of chronic cough complicated with episodes of hemoptysis and diagnosed with bronchiectasis secondary to common variable immunodeficiency. Whole exome sequencing analysis revealed a novel heterozygous variant in the NFKB2 gene (NM_001077494.3), c.931C>T resulting in p.Arg311Cys.
Conclusion: The presence of NFKB2 mutations can lead to the development of early-onset common variable immunodeficiency.
Statement of Novelty: We have identified a novel variant in the NFKB2 gene associated with antibody deficiency.
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LymphoSign Journal
Volume 10 • Number 2 • June 2023
Pages: 30 - 35
History
Received: 7 June 2023
Accepted: 22 June 2023
Accepted manuscript online: 23 June 2023
Version of record online: 18 August 2023
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© 2023.
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AzharAl Shaqaq and Amarilla B.Mandola. 2023. Novel heterozygous mutation in NFKB2 in a patient with predominantly antibody deficiency. LymphoSign Journal.
10(2): 30-35. https://doi.org/10.14785/lymphosign-2023-0007
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