Varaico: Literature-Extracted Genetic Variants

Gene:CXCR4
Variant:p.S338*
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CXCR4

NM_003467.3:p.S338*

Associated Papers

Clinical Validation of a Rapid Automated Lymphoma Next-Generation Sequencing Panel.

Krigstein M et al.

Annals of Laboratory Medicine, 2025

41277019 (PubMed )
Supplement: ALM3692_Supple1.xlsx › Reference_Standard

Analysis and Interpretation of Somatic NMD-Escaping Variants in Oncogenes and Dual-Function Genes across Adult and Pediatric Cancer Cohorts.

Eldomery MK et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Neurodevelopmental origins of structural and psychomotor defects in CXCR4-linked primary immunodeficiency.

Demenego G et al.

Neuron, 2025

Clinicopathologic Features and the Spectrum of Myelokathexis in Warts, Hypogammaglobulinemia, Infections, Myelokathexis Syndrome.

Li J et al.

Laboratory Investigation; a Journal of Technical Methods and Pathology, 2025

Risk of Superficial Fungal Infections in WHIM Syndrome.

Strong J et al.

Dermatology and Therapy, 2025

40178760 (PubMed )
Supplement: 13555_2025_1396_MOESM1_ESM.pdf

Cutaneous manifestations of WHIM syndrome.

Adhanom R et al.

The Journal of Dermatology, 2025

Primary Central Nervous System Lymphoma Tumor Biopsies Show Heterogeneity in Gene Expression Profiles and Genetic Subtypes.

Zhu YX et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Impact of chromosomal aberrations detected by chromosome banding analysis in symptomatic Waldenström's macroglobulinemia.

Ito K et al.

Annals of Hematology, 2025

39412659 (PubMed )
Supplement: 277_2024_6041_MOESM5_ESM.docx

The genetic landscape of congenital neutropenia in Poland: summary of the nationwide screening campaign.

Bąbol-Pokora K et al.

Frontiers in Immunology, 2025

Determination of MYD88 and CXCR4 Mutations for Clinical Detection and Their Significance in Waldenström Macroglobulinemia.

Yan Y et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2024

Unexpected diagnosis of WHIM syndrome in refractory autoimmune cytopenia.

Garcia-Carmona Y et al.

Blood Advances, 2024

Diagnosis and Risk Stratification in Waldenström Macroglobulinemia.

Zanwar S et al.

Journal of the National Comprehensive Cancer Network : Jnccn, 2024

Biomarker analysis of the ASPEN study comparing zanubrutinib with ibrutinib for patients with Waldenström macroglobulinemia.

Tam CS et al.

Blood Advances, 2024

38315878 (PubMed )
Supplement: BLOODA_ADV-2023-010906-mmc1.pdf

Periodontal disease in patients with WHIM syndrome.

Brenchley L et al.

Journal of Clinical Periodontology, 2024

The complex nature of CXCR4 mutations in WHIM syndrome.

Rodríguez-Frade JM et al.

Frontiers in Immunology, 2024

Expanding CXCR4 variant landscape in WHIM syndrome: integrating clinical and functional data for variant interpretation.

Zmajkovicova K et al.

Frontiers in Immunology, 2024

A phase III randomized crossover trial of plerixafor versus G-CSF for treatment of WHIM syndrome.

McDermott DH et al.

The Journal of Clinical Investigation, 2023

Clonal architecture and evolutionary history of Waldenström's macroglobulinemia at the single-cell level.

García-Sanz R et al.

Disease Models & Mechanisms, 2023

Mutational Profile in 75 Patients With Anti-Myelin-Associated Glycoprotein Neuropathy: Clinical and Hematologic Therapy Response and Hints on New Therapeutic Targets.

Castellani F et al.

Neurology(r) Neuroimmunology & Neuroinflammation, 2023

New genetic and epigenetic insights into the chemokine system: the latest discoveries aiding progression toward precision medicine.

Xu H et al.

Cellular & Molecular Immunology, 2023

Severe CD8+ T Lymphopenia in WHIM Syndrome Caused by Selective Sequestration in Primary Immune Organs.

Majumdar S et al.

Journal of Immunology (baltimore, Md. : 1950), 2023

WHIM Syndrome-linked CXCR4 mutations drive osteoporosis.

Anginot A et al.

Nature Communications, 2023

Reduced G protein signaling despite impaired internalization and β-arrestin recruitment in patients carrying a CXCR4Leu317fsX3 mutation causing WHIM syndrome.

Kumar R et al.

Jci Insight, 2023

Prognostic impact of MYD88 and CXCR4 mutations assessed by droplet digital polymerase chain reaction in IgM monoclonal gammopathy of undetermined significance and smouldering Waldenström macroglobulinaemia.

Moreno DF et al.

British Journal of Haematology, 2023

Waldenström Macroglobulinemia and Non-IgM-Type Lymphoplasmacytic Lymphoma Are Genetically Similar.

Awata-Shiraiwa M et al.

Acta Haematologica, 2023

Bone Involvement as a Primary Rare Manifestation of Waldenstrom Macroglobulinemia: A Case Report and Prevalence in a Nationwide Population-Based Cohort Study.

Bhatti K et al.

Journal of Hematology, 2022

Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients.

Geier CB et al.

Journal of Clinical Immunology, 2022

Dysregulated stem cell niches and altered lymphocyte recirculation cause B and T cell lymphopenia in WHIM syndrome.

Zehentmeier S et al.

Science Immunology, 2022

Genotype-phenotype correlations in WHIM syndrome: a systematic characterization of CXCR4WHIM variants.

Zmajkovicova K et al.

Genes and Immunity, 2022

36089616 (PubMed )
Supplement: 41435_2022_181_MOESM1_ESM.docx

Clinical and Hematologic Effects of Endotoxin in Warts, Hypogammaglobulinemia, Infections, and Myelokathexis Syndrome Model Mice.

Majumdar S et al.

Immunohorizons, 2022

Concurrent CDX2 cis-deregulation and UBTF::ATXN7L3 fusion define a novel high-risk subtype of B-cell ALL.

Passet M et al.

Blood, 2022

35316324 (PubMed )
Supplement: 10.1182-2021014723_bloodbld2021014723-suppl1.pdf

From Biology to Treatment of Monoclonal Gammopathies of Neurological Significance.

Visentin A et al.

Cancers, 2022

Characterization of a new WHIM syndrome mutant reveals mechanistic differences in regulation of the chemokine receptor CXCR4.

Luo J et al.

The Journal of Biological Chemistry, 2022

Preneoplastic somatic mutations including MYD88L265P in lymphoplasmacytic lymphoma.

Rodriguez S et al.

Science Advances, 2022

Multicenter Experience of Hematopoietic Stem Cell Transplantation in WHIM Syndrome.

Laberko A et al.

Journal of Clinical Immunology, 2022

Case Report: A Novel CXCR4 Mutation in a Chinese Child With Kawasaki Disease Causing WHIM Syndrome.

Ma X et al.

Frontiers in Immunology, 2022

Treatment paradigm in Waldenström macroglobulinemia: frontline therapy and beyond.

Zanwar S et al.

Therapeutic Advances in Hematology, 2022

Cytogenetic and molecular abnormalities in Waldenström's macroglobulinemia patients: Correlations and prognostic impact.

Krzisch D et al.

American Journal of Hematology, 2021

CXCR4 hyperactivation cooperates with TCL1 in CLL development and aggressiveness.

Lewis R et al.

Leukemia, 2021

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."