Associated Papers
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
Genetic mechanisms of resistance to targeted KRAS inhibition.
Diaz BJ et al.
Biorxiv : the Preprint Server for Biology, 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
Cutaneous manifestations of WHIM syndrome.
Adhanom R et al.
The Journal of Dermatology, 2025
Mavorixafor, CXCR4 antagonist, a novel treatment for WHIM syndrome, first FDA approval 2024.
Waheed A et al.
Annals of Medicine and Surgery (2012), 2025
Longitudinal Glioma Monitoring via Cerebrospinal Fluid Cell-Free DNA.
Riviere-Cazaux C et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Use of plerixafor for short-term management of leukopenia in a pediatric patient with WHIM syndrome.
Caceres-Nazario B et al.
Pediatric Blood & Cancer, 2025
Case Report: A novel CXCR4 variant (p.S341Y) in a family with a pathogenic NFKB1 variant and variable clinical manifestations.
Yilmaz M et al.
Frontiers in Immunology, 2025
The genetic landscape of congenital neutropenia in Poland: summary of the nationwide screening campaign.
Bąbol-Pokora K et al.
Frontiers in Immunology, 2025
From phenotypic to molecular diagnosis: Insights from a clinical immunology service focused on inborn errors of immunity in Colombia
Fernandes Pineda M et al.
Biomedica : Revista Del Instituto Nacional De Salud, 2024
Unexpected diagnosis of WHIM syndrome in refractory autoimmune cytopenia.
Garcia-Carmona Y et al.
Blood Advances, 2024
A novel transmembrane CXCR4 variant that expands the WHIM genotype-phenotype paradigm.
Zmajkovicova K et al.
Blood Advances, 2024
EZH2 mutations in follicular lymphoma distort H3K27me3 profiles and alter transcriptional responses to PRC2 inhibition.
Romero P et al.
Nature Communications, 2024
Impact of different genetic mutations on granulocyte development and G-CSF responsiveness in congenital neutropenia.
Meng X et al.
Blood Advances, 2024
Biomarker analysis of the ASPEN study comparing zanubrutinib with ibrutinib for patients with Waldenström macroglobulinemia.
Tam CS et al.
Blood Advances, 2024
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
Heterogeneous phenotype of a Chinese Familial WHIM syndrome with CXCR4V340fs gain-of-function mutation.
Huang Y 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
Unraveling the genetics of transformed splenic marginal zone lymphoma.
Grau M et al.
Blood Advances, 2023
Historical Cohort of Severe Congenital Neutropenia in Iran: Clinical Course, Laboratory Evaluation, Treatment, and Survival.
Spoor J et al.
Journal of Pediatric Hematology/oncology, 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
[Early detection of WHIM symdrome. A case report].
Macías-Robles AP et al.
Revista Alergia Mexico (tecamachalco, Puebla, Mexico : 1993), 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
Personalized monitoring of circulating tumor DNA with a specific signature of trackable mutations after chimeric antigen receptor T-cell therapy in follicular lymphoma patients.
Jiménez-Ubieto A et al.
Frontiers in Immunology, 2023
Identification of Altered Primary Immunodeficiency-Associated Genes and Their Implications in Pediatric Cancers.
Standing S et al.
Cancers, 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
Concurrent CDX2 cis-deregulation and UBTF::ATXN7L3 fusion define a novel high-risk subtype of B-cell ALL.
Passet M et al.
Blood, 2022
Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.
Sánchez-Rivera FJ et al.
Nature Biotechnology, 2022
Can we identify WHIM in infancy? Opportunities with the public newborn screening process.
Yilmaz M et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2022
Altered CXCR4 dynamics at the cell membrane impairs directed cell migration in WHIM syndrome patients.
García-Cuesta EM et al.
Proceedings of the National Academy of Sciences of the United States of America, 2022
From Biology to Treatment of Monoclonal Gammopathies of Neurological Significance.
Visentin A et al.
Cancers, 2022
Dexamethasone Treatment for COVID-19-Related Lung Injury in an Adult with WHIM Syndrome.
Akahane D et al.
Journal of Clinical Immunology, 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