Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A Novel Heterozygous NFKB2 Variant in a Multiplex Family with Common Variable Immune Deficiency and Autoantibodies Against Type I IFNs.

Journal of clinical immunology - 23 Nov 2024

Baran Alperen, Atılgan Lülecioğlu Aysima, Gao Liwei, Yazıcı Yılmaz Yücehan, Demirel Fevzi, Metin Ayşe, Casanova Jean-Laurent, Puel Anne, Voyer Tom Le, Beyaz Şengül, Belkaya Serkan

Abstract excerpt

We studied a family with three male individuals across two generations affected by common variable immune deficiency (CVID). We identified a novel missense heterozygous variant (c.2602T>A:p.Y868N) of NFKB2 in all patients and not in healthy relatives. Functional studies of the mutant allele in an overexpression system and of the patients' cells confirmed the deleteriousness of the NFKB2 variant and genotype,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Autoantibodies
Share to Common Variable Immunodeficiency

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to COVID-19

Share to Heterozygote

Share to Interferon Type I

Share to Mutation, Missense

Share to Pedigree

Share to SARS-CoV-2

Source

Open in PubMed Open full text

Identifiers

PMID: 39579251
DOI: 10.1007/s10875-024-01843-1
PMCID: PMC11821294

Genes

NFKB2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A Novel Heterozygous NFKB2 Variant in a Multiplex Family with Common Variable Immune Deficiency and Autoantibodies Against Type I IFNs.PMID 39579251Read ↗

Germline mutations in NFKB2 implicate the noncanonical NF-κB pathway in the pathogenesis of common variable immunodeficiency.Semantic proximity Read ↗

Common variable immunodeficiency in two kindreds with heterogeneous phenotypes caused by novel heterozygous NFKB1 mutations.Semantic proximity Read ↗

Type-Specific Impacts of Protein Defects in Pathogenic NFKB2 Variants: Novel Clinical Findings From 138 Patients.Semantic proximity Read ↗

Clinical, Immunological, and Genetic Features in Patients with NFKB1 and NFKB2 Mutations: a Systematic Review.Semantic proximity Read ↗

Characterization of the clinical and immunologic phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.Semantic proximity Read ↗

Nuclear Factor Kappa B (NF-κB)1 and NF-κB2 Deficiency: An Unpredictable Defect With Wide Clinical and Immunologic Phenotype.Semantic proximity Read ↗

NF-κB1 haploinsufficiency due to a novel c.104delT variant in two patients with common variable immunodeficiency.Semantic proximity Read ↗

Damaging heterozygous mutations in NFKB1 lead to diverse immunologic phenotypes.Semantic proximity Read ↗

Clinical and immunological characterization of NFKB1 haploinsufficiency in Japan.Semantic proximity Read ↗

A Nonsense N -Terminus NFKB2 Mutation Leading to Haploinsufficiency in a Patient with a Predominantly Antibody Deficiency.Semantic proximity Read ↗

A Pathogenic Missense Variant in NFKB1 Causes Common Variable Immunodeficiency Due to Detrimental Protein Damage.Semantic proximity Read ↗

Biochemically deleterious human NFKB1 variants underlie an autosomal dominant form of common variable immunodeficiency.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.