Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease

By P. Hernandez, R. Gorlin, J. Lukens, S. Taniuchi, J. Bohinjec, F. François, M. Klotman, G. Diaz. Nature Genetics, 2003

704 citations recorded by the source corpus.

Subfields: Immunology, Oncology

View Paper: https://www.semanticscholar.org/paper/07e4e95f8299c348c78e573388395603f4a884e7

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In Immunology

1. A. Luster
2. Caroline L. Sokol
3. Eric G. Pamer
4. J. Griffith
5. R. Lesley
6. K. Ansel
7. J. Cyster
8. N. Serbina

In Oncology

1. Eric G. Pamer
2. N. Serbina
3. Caroline L. Sokol
4. J. Cyster
5. J. Benovic
6. A. Luster
7. J. Busillo

Citations in the corpus

• Monocyte emigration from bone marrow during bacterial infection requires signals mediated by chemokine receptor CCR2 (2006, background): “Mutations in the gene encoding CXCR4 that lead to increased responsiveness have been identified in patients with WHIM (warts, hypogammaglobulinemia, infections and myelokathexis) syndrom”
• Germinal center dark and light zone organization is mediated by CXCR4 and CXCR5 (2004, background): “It also suggests another immune function that is likely to be disrupted in patients with WHIM syndrome (warts, hypogammaglobulinemia, infections and myelokathexis) who carry C-terminal truncation mutations in CXCR4 (ref”
• CXCR4–SDF-1 Signalling, Locomotion, Chemotaxis and Adhesion (2003, background): “In contrast, however, an activating mutation of CXCR4 in patients suffering from warts, hypogammaglobulinemia, immunodeficiency and myelokathexis (WHIM) syndrome had been recently reported (Hernandez et al. 2003).”
• The chemokine system in innate immunity. (2015, background): “This process is defective in patients with warts, hypogammaglobulinemia, infections, and myelokathexis (WHIM) syndrome, which is caused by mutations in CXCR4 that enhance responsiveness to CXCL12 (Hernandez et al. 2003; Gulino et al. 2004).”
• International Union of Basic and Clinical Pharmacology. LXXXIX. Update on the Extended Family of Chemokine Receptors and Introducing a New Nomenclature for Atypical Chemokine Receptors (2014, neutral): “…sites on the C terminus important for receptor desensitization and internalization (Busillo and Benovic, 2007), causing retention of mature leukocytes in the BM and possibly in other immune organs (Hernandez et al., 2003; Gulino et al., 2004; Balabanian et al., 2005b; Kawai et al., 2007).”
• Regulation of CXCR4 signaling. (2007, background): “The mutations identified to date (one frameshift and three nonsense mutations) all truncate the C-terminal tail of CXCR4 (Figure 2B) eliminating 10 to 19 of the distal tail amino acids, including a number of potential phosphorylation sites [127,128].”
• Chemokines and chemokine receptors: positioning cells for host defense and immunity. (2014, background): “This syndrome is most commonly caused by mutations in CXCR4 that enhance responsiveness to CXCL12 either by impairing CXCR4 internalization and chemokine-induced desensitization or by leading to enhanced or sustained chemokine signaling (14, 15).”
• HIV: cell binding and entry. (2012, background): “Although the implications of CXCR4 dimerization remain unclear for HIV infection, it may explain the dominant phenotype of a carboxyterminal CXCR4 human mutation that results in WHIM syndrome, which is characterized by warts, hypogammaglobulinemia, infections, and myelokathexis (retention of neutrop”