Associated Papers
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
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
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
The complex nature of CXCR4 mutations in WHIM syndrome.
Rodríguez-Frade JM et al.
Frontiers in Immunology, 2024
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
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
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
Case Report: A Novel CXCR4 Mutation in a Chinese Child With Kawasaki Disease Causing WHIM Syndrome.
Ma X et al.
Frontiers in Immunology, 2022
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
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
CXCR4-Specific Nanobodies as Potential Therapeutics for WHIM syndrome.
de Wit RH et al.
The Journal of Pharmacology and Experimental Therapeutics, 2017
Preference of Genetic Diagnosis of CXCR4 Mutation Compared with Clinical Diagnosis of WHIM Syndrome.
Aghamohammadi A et al.
Journal of Clinical Immunology, 2017
Pathogenesis, diagnosis and therapeutic strategies in WHIM syndrome immunodeficiency.
Heusinkveld LE et al.
Expert Opinion on Orphan Drugs, 2017
WHIM Syndrome Caused by Waldenström's Macroglobulinemia-Associated Mutation CXCR4 (L329fs).
Liu Q et al.
Journal of Clinical Immunology, 2016
Hierarchical organization of multi-site phosphorylation at the CXCR4 C terminus.
Mueller W et al.
Plos One, 2013
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