ArticleJournal of clinical immunology2014
Combined immune deficiency in a patient with a novel NFKB2 mutation.
Article in Journal of clinical immunology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
31 citing papers in PubMed, 71 citations in OpenAlex.
- Beyond B cells: T and Innate Immune Mechanisms of Autoimmunity in Common Variable Immunodeficiency.Clinical reviews in allergy & immunology · 2026Review
- A Detrimental NFKB2 Missense Variant is Associated with Hypogammaglobulinemia.Journal of clinical immunology · 2026Article
- Intrinsic functional defects in B cells of patients with NFKB2 mutations.Clinical and experimental immunology · 2025Article
- Exploring Monogenic, Polygenic, and Epigenetic Models of Common Variable Immunodeficiency.Human mutation · 2025Review
- Modeling corticotroph deficiency with pituitary organoids supports the functional role ofeLife · 2024Article
- Article
- Beyond monogenetic rare variants: tackling the low rate of genetic diagnoses in predominantly antibody deficiency.Cellular & molecular immunology · 2021Review
- Nfkb2 variants reveal a p100-degradation threshold that defines autoimmune susceptibility.The Journal of experimental medicine · 2021Article
- Screening for Genetic Mutations for the Early Diagnosis of Common Variable Immunodeficiency in Children With Refractory Immune Thrombocytopenia: A Retrospective Data Analysis From a Tertiary Children's Center.Frontiers in pediatrics · 2020Article
- Fatal Enteroviral Encephalitis in a Patient with Common Variable Immunodeficiency Harbouring a Novel Mutation in NFKB2.Journal of clinical immunology · 2019Article
- Leveraging chromatin accessibility for transcriptional regulatory network inference in T Helper 17 Cells.Genome research · 2019Article
- Lessons learned from the study of human inborn errors of innate immunity.The Journal of allergy and clinical immunology · 2019Review
- Endocrine Disorders Are Prominent Clinical Features in Patients With Primary Antibody Deficiencies.Frontiers in immunology · 2019Article
- Clinical and Immunological Phenotype of Patients With Primary Immunodeficiency Due to Damaging Mutations inFrontiers in immunology · 2019Article
- Novel Heterozygous Mutation inFrontiers in pediatrics · 2019Article
- A Novel Monoallelic Nonsense Mutation in theFrontiers in genetics · 2019Article
- Bacille Calmette-Guerin Complications in Newly Described Primary Immunodeficiency Diseases: 2010-2017.Frontiers in immunology · 2018Review
- Novel nonsense gain-of-functionBlood · 2017Article
- Autoimmunity/inflammation in a monogenic primary immunodeficiency cohort.Clinical & translational immunology · 2017Article
- The non-canonical NF-κB pathway in immunity and inflammation.Nature reviews. Immunology · 2017Review
Corrections and comments
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
Abstract
NFKB2 encodes the p100/p52 protein, a critical mediator of the canonical and noncanonical NFkB signaling pathways. Here we report the comprehensive immune evaluation of a child with a novel NFKB2 mutation and provide evidence that aberrant NFKB2 signaling not only causes humoral immune deficiency, but also interferes with the TCR-mediated proliferation of T cells. These observations expand the known phenotype associated with NFKB2 mutations.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.