ArticleNature communications2014
Biallelic loss-of-function mutation in NIK causes a primary immunodeficiency with multifaceted aberrant lymphoid immunity.
Article in Nature communications, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 79 papers.
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Who cites it
79 citing papers in PubMed, 147 citations in OpenAlex.
- Non-canonical NF-κB drives a fate switch from germinal center to early effector B cells.iScience · 2026Article
- Cryptosporidiosis in inborn errors of immunity: a single center cohort and review of the literature.The Journal of infectious diseases · 2026Article
- Human inborn errors of the alternative NF-κB pathway.Journal of human immunity · 2026Review
- Noncanonical NF-κB pathway driven inflammation across multiple cellular compartments identifies NIK as a therapeutic target for inflammatory bowel disease.Frontiers in immunology · 2026Article
- miR-155 aberrant expression impairs tumor rejection because of its targeting of ICOSL and multiple pathways implicated in the antitumor response.Pharmacological reviews · 2026Review
- Ferroptosis in Autoimmune Diseases: Research Advances and Therapeutic Strategies.International journal of molecular sciences · 2025Review
- Genome-Wide Screening Reveals the Oncolytic Mechanism of Newcastle Disease Virus in a Human Colonic Carcinoma Cell Line.Viruses · 2025Article
- Amyloidosis in Human Inborn Errors of Immunity Predicts Poor Prognosis.Journal of clinical immunology · 2025Article
- Splenic TNF-α signaling potentiates the innate-to-adaptive transition of antiviral NK cells.Immunity · 2025Article
- Mutations disrupting the kinase domain of IKKα lead to immunodeficiency and immune dysregulation in humans.The Journal of experimental medicine · 2025Article
- Targeting NF-kappaB-inducing kinase shapes B-cell homeostasis in myasthenia gravis.Journal of neuroinflammation · 2025Article
- Long-term outcome of bone marrow transplantation in NIK deficiency: non-redundant role of non-canonical NF-κB signaling in thymic reconstitution and secondary lymphoid organ development.Frontiers in immunology · 2025Article
- LTβR deficiency causes lymph node aplasia and impaired B cell differentiation.Science immunology · 2024Article
- Defective kinase activity of IKKα leads to combined immunodeficiency and disruption of immune tolerance in humans.Nature communications · 2024Article
- A large cohort from an immunology reference center and an algorithm for the follow-up of chronic neutropenia.Journal of clinical immunology · 2024Article
- Inherited human RelB deficiency impairs innate and adaptive immunity to infection.Proceedings of the National Academy of Sciences of the United States of America · 2024Article
- Heterogeneity in RAG1 and RAG2 deficiency: 35 cases from a single-centre.Clinical and experimental immunology · 2024Article
- Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiency.Nature · 2023Article
- Inborn errors of human B cell development, differentiation, and function.The Journal of experimental medicine · 2023Review
- Mistuned NF-κB signaling in lymphocytes: lessons from relevant inborn errors of immunity.Clinical and experimental immunology · 2023Article
19 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
25 authors at 9 institutions in 6 countries.
Funding
Abstract
Primary immunodeficiency disorders enable identification of genes with crucial roles in the human immune system. Here we study patients suffering from recurrent bacterial, viral and Cryptosporidium infections, and identify a biallelic mutation in the MAP3K14 gene encoding NIK (NF-κB-inducing kinase). Loss of kinase activity of mutant NIK, predicted by in silico analysis and confirmed by functional assays, leads to defective activation of both canonical and non-canonical NF-κB signalling. Patients with mutated NIK exhibit B-cell lymphopenia, decreased frequencies of class-switched memory B cells and hypogammaglobulinemia due to impaired B-cell survival, and impaired ICOSL expression. Although overall T-cell numbers are normal, both follicular helper and memory T cells are perturbed. Natural killer (NK) cells are decreased and exhibit defective activation, leading to impaired formation of NK-cell immunological synapses. Collectively, our data illustrate the non-redundant role for NIK in human immune responses, demonstrating that loss-of-function mutations in NIK can cause multiple aberrations of lymphoid immunity.
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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.