ReviewGenes and immunity2015
Rare mendelian primary immunodeficiency diseases associated with impaired NF-κB signaling.
Review in Genes and immunity, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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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
15 citing papers in PubMed, 27 citations in OpenAlex.
- Clinical and immunological characterization ofFrontiers in immunology · 2026Article
- NF-κB in biology and targeted therapy: new insights and translational implications.Signal transduction and targeted therapy · 2024Review
- Immunodeficiency and bone marrow failure with mosaic and germline TLR8 gain of function.Blood · 2021Article
- Signaling through polymerization and degradation: Analysis and simulations of T cell activation mediated by Bcl10.PLoS computational biology · 2021Article
- Hallmarks of Cancers: Primary Antibody DeficiencyFrontiers in immunology · 2021Review
- Immunological mechanisms underlying sterile inflammation in the pathogenesis of atherosclerosis: potential sites for intervention.Expert review of clinical immunology · 2021Review
- The genetic basis of pneumococcal and staphylococcal infections: inborn errors of human TLR and IL-1R immunity.Human genetics · 2020Review
- Multiple Family Members With Delayed Cord Separtion and Combined Immunodeficiency With Novel Mutation inFrontiers in pediatrics · 2020Article
- Germline Genetic Risk Variants for Progressive Multifocal Leukoencephalopathy.Frontiers in neurology · 2020Article
- Clinical presentation, immunologic features, and hematopoietic stem cell transplant outcomes for IKBKB immune deficiency.Clinical immunology (Orlando, Fla.) · 2019Article
- Identification of potential biomarkers for differential diagnosis between rheumatoid arthritis and osteoarthritis via integrative genome‑wide gene expression profiling analysis.Molecular medicine reports · 2019Article
- Acquired and Innate Immunity Impairment and Severe DisseminatedFrontiers in immunology · 2018Article
- Bacille Calmette-Guerin Complications in Newly Described Primary Immunodeficiency Diseases: 2010-2017.Frontiers in immunology · 2018Review
- A Case Report of Hypoglycemia and Hypogammaglobulinemia: DAVID Syndrome in a Patient With a Novel NFKB2 Mutation.The Journal of clinical endocrinology and metabolism · 2017Article
- Review
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
Abstract
Mendelian primary immunodeficiency diseases (MPIDs) are rare disorders affecting distinct constituents of the innate and adaptive immune system. Although they are genetically heterogeneous, a substantial group of MPIDs is due to mutations in genes affecting the nuclear factor-κB (NF-κB) transcription pathway, essential for cell proliferation and cell survival and involved in innate immunity and inflammation. Many of these genes encode for crucial regulatory components of the NF-κB pathway and their mutations are associated with immunological and developmental signs somehow overlapping in patients with MPIDs. At present, nine different MPIDs listed in the online mendelian inheritance in man (OMIM) are caused by mutations in at least nine different genes strictly involved in the NF-κB pathway that result in defects in immune responses. Here we report on the distinct function of each causative gene, on the impaired NF-κB step and more in general on the molecular mechanisms underlining the pathogenesis of the disease. Overall, the MPIDs affecting the NF-κB signalosome require a careful integrated diagnosis and appropriate genetic tests to be molecularly identified. Their discovery at an ever-increasing rate will help establish a common therapeutic strategy for a subclass of immunodeficient patients.
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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.