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

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

Clinical immunology (Orlando, Fla.) - 1 Jun 2026

Bylica Jan, Karpiński Marek, Korkosz Mariusz, Kosałka-Węgiel Joanna

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

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

Share to Common Variable Immunodeficiency
Share to CFTR gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to NFKB1 gene

Share to Haploinsufficiency

Share to Mutation

Share to NF-kappa B p50 Subunit

Share to Young Adult

Source

Identifiers

PMID: 41921718
DOI: 10.1016/j.clim.2026.110703

Genes

NFKB1
CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

NF-κB1 haploinsufficiency due to a novel c.104delT variant in two patients with common variable immunodeficiency.PMID 41921718Read ↗

Identification of novel NFKB1 and ICOS frameshift variants in patients with CVID.Semantic proximity Read ↗

Combined immunodeficiency caused by a novel homozygous NFKB1 mutation.Semantic proximity Read ↗

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

NF-κB1 Haploinsufficiency Causing Immunodeficiency and EBV-Driven Lymphoproliferation.Semantic proximity Read ↗

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

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

Novel nonsense gain-of-function NFKB2 mutations associated with a combined immunodeficiency phenotype.Semantic proximity Read ↗

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

Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans.Semantic proximity Read ↗

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

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

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

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