ReviewInternational journal of molecular sciences2020
Aberrant CXCR4 Signaling at Crossroad of WHIM Syndrome and Waldenstrom's Macroglobulinemia.
Review in International journal of molecular sciences, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
What it found
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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
12 citing papers in PubMed, 18 citations in OpenAlex.
- Expression of the CXCR4 S338X Variant Improves Anti-Leukemia Efficacy of Anti-CD19 CAR-T Cells.Cancer science · 2026Article
- Neurodevelopmental origins of structural and psychomotor defects in CXCR4-linked primary immunodeficiency.Neuron · 2025Article
- Development of Mutant MBiochemistry · 2025Article
- Unexpected diagnosis of WHIM syndrome in refractory autoimmune cytopenia.Blood advances · 2024Article
- The complex nature of CXCR4 mutations in WHIM syndrome.Frontiers in immunology · 2024Review
- First reported case of splenic diffuse red pulp small B-cell lymphoma with novel mutations in CXCR4 and TRAF3 genes.International journal of hematology · 2023Article
- Reduced G protein signaling despite impaired internalization and β-arrestin recruitment in patients carrying a CXCR4Leu317fsX3 mutation causing WHIM syndrome.JCI insight · 2023Article
- Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients.Journal of clinical immunology · 2022Article
- CXCR4 and anti-BCMA CAR co-modified natural killer cells suppress multiple myeloma progression in a xenograft mouse model.Cancer gene therapy · 2022Article
- Nucleic Acid Biomarkers in Waldenström Macroglobulinemia and IgM-MGUS: Current Insights and Clinical Relevance.Diagnostics (Basel, Switzerland) · 2022Review
- Case Report: A NovelFrontiers in immunology · 2022Article
- Shared genomic segment analysis in a large high-risk chronic lymphocytic leukemia pedigree implicatesJournal of translational genetics and genomics · 2021Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Given its pleiotropic functions, including its prominent role in inflammation, immune responses and cancer, the C-X-C chemokine receptor type 4 (CXCR4) has gained significant attention in recent years and has become a relevant target in drug development. Although the signaling properties of CXCR4 have been extensively studied, several aspects deserve deeper investigations. Mutations in the C-term tail of the CXCR4 gene cause WHIM syndrome, a rare congenital immunodeficiency associated by chronic leukopenia. Similar mutations have also been recently identified in 30% of patients affected by Waldenstrom's macroglobulinaemia, a B-cell neoplasia with bone marrow accumulation of malignant cells. An ample body of work has been generated to define the impact of WHIM mutations on CXCR4 signaling properties and evaluate their role on pathogenesis, diagnosis, and response to therapy, although the identity of disease-causing signaling pathways and their relevance for disease development in different genetic variants are still open questions. This review discusses the current knowledge on biochemical properties of CXCR4 mutations to identify their prototypic signaling profile potentially useful to highlighting novel opportunities for therapeutic intervention.
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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.