The Expanding Spectrum of NFkB1 Deficiency

Bryant, Vanessa L.; Tangye, Stuart G.

doi:10.1007/s10875-016-0310-5

Cited by 5 publications

(3 citation statements)

References 7 publications

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“…Our functional study identified a heterozygous NFKB1 (c.730+5G>A) mutation causing the in-frame skipping of exon 8, which led to P50 haploinsufficiency. Many previous studies have shown that NF-κB1 haploinsufficiency can lead to CVID (Bryant and Tangye, 2016 ; Schipp et al, 2016 ; Dieli-Crimi et al, 2018 ; Duan and Feanny, 2019 ; Schroder et al, 2019 ); typical symptoms are repeated infections and IgA/IgM deficiency caused by hypogammaglobulinemia. Thompson et al reported that heterozygous mutations in NFKB1 were associated with PG and CVID (Thompson et al, 2018 ).…”

Section: Discussionmentioning

confidence: 99%

Case Report: A Novel Mutation in NFKB1 Associated With Pyoderma Gangrenosum

et al. 2021

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Pyoderma gangrenosum (PG) is a rare, destructive inflammatory skin disease of which a painful nodule or pustule breaks down to form a progressively enlarging ulcer. Ulcerations associated with PG may occur after trauma or injury to the skin. The etiology has not been clearly elucidated. Our report described a PG patient with a heterozygous splice-donor-site mutation in NFKB1 (c.730+5G>A) causing the absence of exon 8 and the formation of truncated p105 (p.Asp191_Lys244delinsGlu; p105delEx8), which led to distinct symptoms of high fever and excessive inflammation in wound area after routine surgical procedures. The functional analysis showed that the variant caused reduced phosphorylation of p105 and resulted in the decreased processing of p105 to p50. We conclude that the patient's symptoms were caused by dysregulation of the NF-κB signaling pathway.

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Section: Discussionmentioning

confidence: 99%

Case Report: A Novel Mutation in NFKB1 Associated With Pyoderma Gangrenosum

et al. 2021

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“…It can also inhibit the activation of NF-κB, TNF, and MAPK signaling pathways, thereby protecting against acute lung injury caused by lipopolysaccharide [ 29 ]. NFKB1 is involved in the inflammatory response, regulation of immunity, and transcriptional regulation of related genes [ 30 ]. By inhibiting the expression of NFkB1 in pulmonary microvascular endothelial cells, it can inhibit inflammation and protect against acute lung injury [ 31 ].…”

Section: Discussionmentioning

confidence: 99%

Virtual Screening and Molecular Docking to Study the Mechanism of Chinese Medicines in the Treatment of Coronavirus Infection

et al. 2021

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Background Heat-clearing and detoxifying herbs (HDHs) play an important role in the prevention and treatment of coronavirus infection. However, their mechanism of action needs further study. This study aimed to explore the anti-coronavirus basis and mechanism of HDHs. Material/Methods Database mining was performed on 7 HDHs. Core ingredients and targets were screened according to ADME rules combined with Neighborhood, Co-occurrence, Co-expression, and other algorithms. GO enrichment and KEGG pathway analyses were performed using the R language. Finally, high-throughput molecular docking was used for verification. Results HDHs mainly acts on NOS3, EGFR, IL-6, MAPK8, PTGS2, MAPK14, NFKB1, and CASP3 through quercetin, luteolin, wogonin, indirubin alkaloids, β-sitosterol, and isolariciresinol. These targets are mainly involved in the regulation of biological processes such as inflammation, activation of MAPK activity, and positive regulation of NF-κB transcription factor activity. Pathway analysis further revealed that the pathways regulated by these targets mainly include: signaling pathways related to viral and bacterial infections such as tuberculosis, influenza A, Ras signaling pathways; inflammation-related pathways such as the TLR, TNF, MAPK, and HIF-1 signaling pathways; and immune-related pathways such as NOD receptor signaling pathways. These pathways play a synergistic role in inhibiting lung inflammation and regulating immunity and antiviral activity. Conclusions HDHs play a role in the treatment of coronavirus infection by regulating the body’s immunity, fighting inflammation, and antiviral activities, suggesting a molecular basis and new strategies for the treatment of COVID-19 and a foundation for the screening of new antiviral drugs.

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“…Of note in the PAD category, several gain-of-function genetic defects in the signaling of phosphoinositide 3-kinase (PI3K) and nuclear factor k-enhancer of activated B cells (NF-kB) have been shown to be involved in the dysregulation of the adaptive immune response and continuous lymphoid tissue growth, thus increasing the susceptibility to lymphoma (88)(89)(90)(91)(92). Of note, a minority of patients with NF-kB defects also presented avoiding cellular immune destruction mainly due to abrogated CD8 T-cell immunity (93,94).…”

Section: Sustaining Proliferative Signalingmentioning

confidence: 99%

Hallmarks of Cancers: Primary Antibody Deficiency Versus Other Inborn Errors of Immunity

et al. 2021

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Inborn Errors of Immunity (IEI) comprise more than 450 inherited diseases, from which selected patients manifest a frequent and early incidence of malignancies, mainly lymphoma and leukemia. Primary antibody deficiency (PAD) is the most common form of IEI with the highest proportion of malignant cases. In this review, we aimed to compare the oncologic hallmarks and the molecular defects underlying PAD with other IEI entities to dissect the impact of avoiding immune destruction, genome instability, and mutation, enabling replicative immortality, tumor-promoting inflammation, resisting cell death, sustaining proliferative signaling, evading growth suppressors, deregulating cellular energetics, inducing angiogenesis, and activating invasion and metastasis in these groups of patients. Moreover, some of the most promising approaches that could be clinically tested in both PAD and IEI patients were discussed.

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The Expanding Spectrum of NFkB1 Deficiency

Cited by 5 publications

References 7 publications

Case Report: A Novel Mutation in NFKB1 Associated With Pyoderma Gangrenosum

Case Report: A Novel Mutation in NFKB1 Associated With Pyoderma Gangrenosum

Virtual Screening and Molecular Docking to Study the Mechanism of Chinese Medicines in the Treatment of Coronavirus Infection

Hallmarks of Cancers: Primary Antibody Deficiency Versus Other Inborn Errors of Immunity

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