ArticleThe Journal of clinical investigation2013
A recurrent dominant negative E47 mutation causes agammaglobulinemia and BCR(-) B cells.
Article in The Journal of clinical investigation, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 54 papers.
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Who cites it
54 citing papers in PubMed, 114 citations in OpenAlex.
- Uncovering genetic variation in humoral inborn errors of immunity in African populations: insights from the African genome variation database.Scientific reports · 2026Article
- Inhibition of p38 MAPK after repetitive mTBI ameliorates immune signaling and functional deficits.Acta neuropathologica communications · 2026Article
- Multisystem hemorrhage in a very preterm infant born to a mother with immune thrombocytopenia: a case report and literature review.Frontiers in pediatrics · 2026Article
- Incomplete penetrance in inborn errors of immunity: A skeleton in the closet-The sequel.Journal of human immunity · 2025Review
- Human genetic influences on early B cell development.Journal of human immunity · 2025Review
- Curation of gene-disease relationships in primary antibody deficiencies using the ClinGen validation framework.The Journal of allergy and clinical immunology · 2025Article
- Article
- Exclusive Characteristics of the p.E555K Dominant-Negative Variant in Autosomal Dominant E47 Deficiency.Journal of clinical immunology · 2024Article
- B-cells absence in patients diagnosed as inborn errors of immunity: a registry-based study.Immunogenetics · 2024Article
- Clinical and immunological characterisation of patients with common variable immunodeficiency related immune thrombocytopenia.Clinical and experimental medicine · 2023Article
- TCF3 haploinsufficiency defined by immune, clinical, gene-dosage, and murine studies.The Journal of allergy and clinical immunology · 2023Article
- Inborn errors of human B cell development, differentiation, and function.The Journal of experimental medicine · 2023Review
- Identification of TCF3 germline variants in pediatric B-cell acute lymphoblastic leukemia.Blood advances · 2023Article
- Varicella in the neonatal ICU due to the Varicella vaccine Oka strain.Journal of neonatal-perinatal medicine · 2023Article
- Cost Utility of Lifelong Immunoglobulin Replacement Therapy vs Hematopoietic Stem Cell Transplant to Treat Agammaglobulinemia.JAMA pediatrics · 2022Article
- Primary antibody deficiencies in Turkey: molecular and clinical aspects.Immunologic research · 2022Article
- Diagnostic Yield and Therapeutic Consequences of Targeted Next-Generation Sequencing in Sporadic Primary Immunodeficiency.International archives of allergy and immunology · 2022Article
- Multi-omics analysis of naïve B cells of patients harboring the C104R mutation in TACI.Frontiers in immunology · 2022Article
- TCF3 Dominant Negative Variant Causes an Early Block in B-Lymphopoiesis and Agammaglobulinemia.Journal of clinical immunology · 2021Article
- Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients.The Journal of experimental medicine · 2021Article
Corrections and comments
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Authors and funding
9 authors at 6 institutions in 3 countries.
Funding
Abstract
Approximately 90% of patients with isolated agammaglobulinemia and failure of B cell development have mutations in genes required for signaling through the pre–B cell and B cell receptors. The nature of the gene defect in the majority of remaining patients is unknown. We recently identified 4 patients with agammaglobulinemia and markedly decreased numbers of peripheral B cells. The B cells that could be detected had an unusual phenotype characterized by the increased expression of CD19 but the absence of a B cell receptor. Genetic studies demonstrated that all 4 patients had the exact same de novo mutation in the broadly expressed transcription factor E47. The mutant protein (E555K) was stable in patient-derived EBV-transformed cell lines and cell lines transfected with expression vectors. E555K in the transfected cells localized normally to the nucleus and resulted in a dominant negative effect when bound to DNA as a homodimer with wild-type E47. Mutant E47 did permit DNA binding by a tissue-specific heterodimeric DNA-binding partner, myogenic differentiation 1 (MYOD). These findings document a mutational hot-spot in E47 and represent an autosomal dominant form of agammaglobulinemia. Further, they indicate that E47 plays a critical role in enforcing the block in development of B cell precursors that lack functional antigen receptors.
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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.