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
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
Unexpected diagnosis of WHIM syndrome in refractory autoimmune cytopenia.
Garcia-Carmona Y 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
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
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
Machine learning models-based on integration of next-generation sequencing testing and tumor cell sizes improve subtype classification of mature B-cell neoplasms.
Mu Y et al.
Frontiers in Oncology, 2023
Disease Progression of WHIM Syndrome in an International Cohort of 66 Pediatric and Adult Patients.
Geier CB et al.
Journal of Clinical Immunology, 2022
Genotype-phenotype correlations in WHIM syndrome: a systematic characterization of CXCR4WHIM variants.
Zmajkovicova K et al.
Genes and Immunity, 2022
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
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
Molecular and genetic biomarkers implemented from next-generation sequencing provide treatment insights in clinical practice for Waldenström macroglobulinemia.
Wang Y et al.
Neoplasia (new York, N.y.), 2021
The negative charge of the 343 site is essential for maintaining physiological functions of CXCR4.
Wang L et al.
Bmc Molecular and Cell Biology, 2021
Aberrant CXCR4 Signaling at Crossroad of WHIM Syndrome and Waldenstrom's Macroglobulinemia.
Milanesi S et al.
International Journal of Molecular Sciences, 2020
New Insights on the Emerging Genomic Landscape of CXCR4 in Cancer: A Lesson from WHIM.
Scala S et al.
Vaccines, 2020
Family studies of warts, hypogammaglobulinemia, immunodeficiency, myelokathexis syndrome.
Dale DC et al.
Current Opinion in Hematology, 2020
WHIM Syndrome: from Pathogenesis Towards Personalized Medicine and Cure.
Heusinkveld LE et al.
Journal of Clinical Immunology, 2019
WHIM syndrome: Immunopathogenesis, treatment and cure strategies.
McDermott DH et al.
Immunological Reviews, 2019
MYD88 and CXCR4 Mutation Profiling in Lymphoplasmacytic Lymphoma/Waldenstrom's Macroglobulinaemia.
Vinarkar S et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2019
How I treat warts, hypogammaglobulinemia, infections, and myelokathexis syndrome.
Badolato R et al.
Blood, 2017
WHIM Syndrome With a Novel CXCR4 Variant in a Korean Child.
Shin DW et al.
Annals of Laboratory Medicine, 2017
WHIM Syndrome Caused by Waldenström's Macroglobulinemia-Associated Mutation CXCR4 (L329fs).
Liu Q et al.
Journal of Clinical Immunology, 2016
Description and outcome of a cohort of 8 patients with WHIM syndrome from the French Severe Chronic Neutropenia Registry.
Beaussant Cohen S et al.
Orphanet Journal of Rare Diseases, 2012
WHIM syndrome caused by a single amino acid substitution in the carboxy-tail of chemokine receptor CXCR4.
Liu Q et al.
Blood, 2012
[CXCR4, a therapeutic target in rare immunodeficiencies?].
Bignon A et al.
Medecine Sciences : M/s, 2011
CXCL12/CXCR4-axis dysfunctions: Markers of the rare immunodeficiency disorder WHIM syndrome.
Bachelerie F
Disease Markers, 2010
Genetic variation in CXCR4 and risk of chronic lymphocytic leukemia.
Crowther-Swanepoel D et al.
Blood, 2009
Clinical and genetic diagnosis of warts, hypogammaglobulinemia, infections, and myelokathexis syndrome in 10 patients.
Tassone L et al.
The Journal of Allergy and Clinical Immunology, 2009
Association between the candidate susceptibility gene ACVR2A on chromosome 2q22 and pre-eclampsia in a large Norwegian population-based study (the HUNT study).
Roten LT et al.
European Journal of Human Genetics : Ejhg, 2009
WHIM syndrome: congenital immune deficiency disease.
Kawai T et al.
Current Opinion in Hematology, 2009
Recurrent CXCR4 sequence variation in a girl with WHIM syndrome.
Alapi K et al.
European Journal of Haematology, 2007
Enhanced function with decreased internalization of carboxy-terminus truncated CXCR4 responsible for WHIM syndrome.
Kawai T et al.
Experimental Hematology, 2005
CXCR4 mutations in WHIM syndrome: a misguided immune system?
Diaz GA
Immunological Reviews, 2005
WHIM syndrome: a genetic disorder of leukocyte trafficking.
Gulino AV
Current Opinion in Allergy and Clinical Immunology, 2003
Mutations in the chemokine receptor gene CXCR4 are associated with WHIM syndrome, a combined immunodeficiency disease.
Hernandez PA et al.
Nature Genetics, 2003