ArticleJournal of clinical immunology2016
WHIM Syndrome Caused by Waldenström's Macroglobulinemia-Associated Mutation CXCR4 (L329fs).
Article in Journal of clinical immunology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 31 citations in OpenAlex.
- Physical interaction with Ephrin B1 promotes CXCR4 intracellular localization and oncogenic potential.Cellular and molecular life sciences : CMLS · 2026Article
- Case Report: Functional characterization of lymphocyte populations in a pediatric patient with WHIM syndrome.Frontiers in immunology · 2026Article
- Unexpected diagnosis of WHIM syndrome in refractory autoimmune cytopenia.Blood advances · 2024Article
- Expanding CXCR4 variant landscape in WHIM syndrome: integrating clinical and functional data for variant interpretation.Frontiers in immunology · 2024Review
- Heterogeneous phenotype of a Chinese Familial WHIM syndrome with CXCR4Frontiers in immunology · 2024Article
- CXCR4 antagonism ameliorates leukocyte abnormalities in a preclinical model of WHIM syndrome.Frontiers in immunology · 2024Article
- Consideration of underlying immunodeficiency in refractory or recalcitrant warts: A review of the literature.Skin health and disease · 2022Review
- The negative charge of the 343 site is essential for maintaining physiological functions of CXCR4.BMC molecular and cell biology · 2021Article
- Aberrant CXCR4 Signaling at Crossroad of WHIM Syndrome and Waldenstrom's Macroglobulinemia.International journal of molecular sciences · 2020Review
- It Takes Three Receptors to Raise a B Cell.Trends in immunology · 2020Review
- New Insights on the Emerging Genomic Landscape of CXCR4 in Cancer: A Lesson from WHIM.Vaccines · 2020Review
- WHIM Syndrome: from Pathogenesis Towards Personalized Medicine and Cure.Journal of clinical immunology · 2019Review
- MYD88 and CXCR4 Mutation Profiling in Lymphoplasmacytic Lymphoma/Waldenstrom's Macroglobulinaemia.Indian journal of hematology & blood transfusion : an official journal of Indian Society of Hematology and Blood Transfusion · 2019Article
- Adaptive Immunodeficiency in WHIM Syndrome.International journal of molecular sciences · 2018Review
- Review
- Pathogenesis, diagnosis and therapeutic strategies in WHIM syndrome immunodeficiency.Expert opinion on orphan drugs · 2017Article
- Mesenchymal Stem/Stromal Cells Overexpressing CXCR4Cell transplantationArticle
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Authors and funding
13 authors at 3 institutions in 1 country.
Funding
Abstract
WHIM syndrome is an autosomal dominant immunodeficiency disease caused by mutations affecting the carboxy-terminus of CXCR4. To characterize novel genetic causes of the syndrome, we recruited a pediatric patient with possible WHIM syndrome, performed CXCR4 gene sequencing and compared his clinical phenotype and CXCR4 tail amino acid sequences with other patients with WHIM syndrome carrying CXCR4 (R334X) mutations. We identified and biochemically characterized a heterozygous 5 base pair deletion (nucleotides 986-990) located in the portion of the open reading frame (ORF) of CXCR4 that encodes the carboxy-terminal domain of the receptor. This CXCR4 (L329fs) mutation causes a frame-shift at codon 329 resulting in replacement of the final 24 predicted amino acids of the receptor with 12 missense amino acids. Like previously reported WHIM mutations, this frame-shift mutation CXCR4 (L329fs) decreased receptor downregulation in response to the CXCR4 agonist CXCL12 in patient PBMCs as well as in transfected K562 and HEK 293 cells, but increased calcium flux responses in K562 cells to CXCL12 stimulation. Thus, CXCR4 (L329fs) appears to be a de novo autosomal dominant frame-shift gain-of-function mutation that like other carboxy-terminus mutations causes WHIM syndrome. The same CXCR4 (L329fs) frame-shift variant has been reported to occur in tumor cells from a patient with Waldenström's Macroglobulemia (WM), but is caused by a distinct genetic mechanism: insertion of a single nucleotide in the L329 codon, providing additional evidence that the carboxy-terminus of CXCR4 is a genetic hotspot for mutation.
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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.