ArticleScience immunology2023
A multimorphic mutation in IRF4 causes human autosomal dominant combined immunodeficiency.
Article in Science immunology, 2023. 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
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Who cites it
31 citing papers in PubMed, 39 citations in OpenAlex.
- IRF4 p.T95R combined immunodeficiency: Clinical features and transplant outcomes.Journal of human immunity · 2026Article
- Interferon regulatory factors orchestrate CD8International journal of molecular medicine · 2026Review
- Multivariate genetic analysis reveals three distinct pathological dimensions in musculoskeletal disorders.Nature communications · 2026Article
- Characterizing gene perturbations in single cells via network divergence analysis.Nature communications · 2026Article
- Multi-tissue transcriptomic aging atlas reveals predictive aging biomarkers in the killifish.Nature aging · 2026Article
- A decoy oligodeoxynucleotide favors the differentiation of CpG ODN-induced B cells into IL-10-producing Breg-like cells over plasma cells by restoring IRF4/IRF8 imbalance.Cellular and molecular life sciences : CMLS · 2026Article
- Heterogeneous immune cell composition in patients with combined immunodeficiency.Frontiers in immunology · 2026Article
- Tumor-driven stabilization of CD8Frontiers in immunology · 2026Review
- Interferon regulatory factor 4 as a context-dependent regulator of inflammation: transcriptional and epigenetic control, skin diseases, and translational challenges.Frontiers in immunology · 2026Review
- IRF4 haploinsufficiency in a multiplex family with Whipple's disease.Journal of human immunity · 2026Article
- The B-cell-autoantibody axis in lung cancer immunity.Theranostics · 2026Review
- Human genetics of Whipple's disease.Current opinion in rheumatology · 2025Review
- Cutting Edge: Cooperative interferon regulatory factor network shapes the NK-cell antiviral response.Journal of immunology (Baltimore, Md. : 1950) · 2025Article
- A novel dominant-negative variant of IRF8 in a mother and son: Clinical, phenotypic and biological characteristics.The Journal of allergy and clinical immunology · 2025Article
- Human immunity.Journal of human immunity · 2025Article
- Human inborn errors of immunity: 2024 update on the classification from the International Union of Immunological Societies Expert Committee.Journal of human immunity · 2025Article
- Effective in vivo binding energy landscape illustrates kinetic stability of RBPJ-DNA binding.Nature communications · 2025Article
- Intrinsic functional defects in B cells of patients with NFKB2 mutations.Clinical and experimental immunology · 2025Article
- T-cell subsets inClinical & translational immunology · 2025Review
- Interferon Regulatory Factor 4 dose-dependently controls peripheral Treg cell differentiation and homeostasis by modulating chromatin accessibility in mice.Frontiers in immunology · 2025Article
Corrections and comments
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Authors and funding
103 authors at 6 institutions in 4 countries.
Funding
Abstract
Interferon regulatory factor 4 (IRF4) is a transcription factor (TF) and key regulator of immune cell development and function. We report a recurrent heterozygous mutation in IRF4, p.T95R, causing an autosomal dominant combined immunodeficiency (CID) in seven patients from six unrelated families. The patients exhibited profound susceptibility to opportunistic infections, notably
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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.