Associated Papers
Two rare case reports of familial cyclic neutropenia caused by ELANE gene mutation.
Wang K et al.
Medicine, 2026
Flavopiridol restores granulopoiesis in experimental models of severe congenital neutropenia.
Nasri M et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2025
Cyclic neutropenia: a case report and literature review.
Li JL et al.
American Journal of Translational Research, 2025
Contribution of next generation sequencing to the diagnosis of inborn errors of immunity in a pediatric cohort.
Godinez-Zamora GF 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
Comparison of Gene-Editing Approaches for Severe Congenital Neutropenia-Causing Mutations in the ELANE Gene.
Ritter MU et al.
The Crispr Journal, 2024
De Novo Deep Intron ELANE Mutation Resulting in Severe Congenital Neutropenia.
Shu Z et al.
Journal of Clinical Immunology, 2024
Discerning clinicopathological features of congenital neutropenia syndromes: an approach to diagnostically challenging differential diagnoses.
Parisi X et al.
Journal of Clinical Pathology, 2024
Impact of different genetic mutations on granulocyte development and G-CSF responsiveness in congenital neutropenia.
Meng X et al.
Blood Advances, 2024
Clinical relevance of SCN and CyN induced by ELANE mutations: a systematic review.
Xiao Y et al.
Frontiers in Immunology, 2024
Evaluation of Neutrophil Elastase Inhibitors as Potential Therapies for ELANE Associated Neutropenia.
Makaryan V et al.
Journal of Cellular Immunology, 2024
Screening for ELANE, HAX1 and GFI1 gene mutations in children with neutropenia and clinical characterization of two novel mutations in ELANE gene.
Komvilaisak P et al.
Bmc Pediatrics, 2023
The clinical utility of rapid exome sequencing in a consanguineous population.
Monies D et al.
Genome Medicine, 2023
Mutant allele knockout with novel CRISPR nuclease promotes myelopoiesis in ELANE neutropenia.
Sabo P et al.
Molecular Therapy. Methods & Clinical Development, 2022
Genetic Testing in Egyptian Patients with Inborn Errors of Immunity: a Single-Center Experience.
El Hawary RE et al.
Journal of Clinical Immunology, 2022
Heterogeneous genetic landscape of congenital neutropenia in Korean patients revealed by whole exome sequencing: genetic, phenotypic and histologic correlations.
Jeong D et al.
Scientific Reports, 2022
Clinical and molecular characteristics of Thai patients with ELANE-related neutropaenia.
Ittiwut R et al.
Journal of Clinical Pathology, 2022
In Silico Analysis Revealed Five Novel High-Risk Single-Nucleotide Polymorphisms (rs200384291, rs201163886, rs193141883, rs201139487, and rs201723157) in ELANE Gene Causing Autosomal Dominant Severe Congenital Neutropenia 1 and Cyclic Hematopoiesis.
Shinwari K et al.
Thescientificworldjournal, 2022
Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.
Chan KW et al.
Frontiers in Immunology, 2022
Comparison of Gene Editing versus a Neutrophil Elastase Inhibitor as Potential Therapies for ELANE Neutropenia.
Makaryan V et al.
Journal of Cellular Immunology, 2022
iPSC modeling of stage-specific leukemogenesis reveals BAALC as a key oncogene in severe congenital neutropenia.
Dannenmann B et al.
Cell Stem Cell, 2021
Neutrophil Elastase Defects in Congenital Neutropenia.
Rydzynska Z et al.
Frontiers in Immunology, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
Screening for primary immunodeficiency diseases by next-generation sequencing in early life.
Sun J et al.
Clinical & Translational Immunology, 2020
Human iPSC-based model of severe congenital neutropenia reveals elevated UPR and DNA damage in CD34+ cells preceding leukemic transformation.
Dannenmann B et al.
Experimental Hematology, 2019
Severe congenital neutropenia associated with the ELANE gene in Chinese children: case report.
Gao L et al.
Pediatric Investigation, 2018
Successful second hematopoietic cell transplantation in severe congenital neutropenia.
Hashem H et al.
Pediatric Transplantation, 2018
Clinical, Laboratory, and Molecular Characteristics and Remission Status in Children With Severe Congenital and Non-congenital Neutropenia.
Gong RL et al.
Frontiers in Pediatrics, 2018
Elastase inhibitors as potential therapies for ELANE-associated neutropenia.
Makaryan V et al.
Journal of Leukocyte Biology, 2017
Severe congenital neutropenias.
Skokowa J et al.
Nature Reviews. Disease Primers, 2017
Classical inherited bone marrow failure syndromes with high risk for myelodysplastic syndrome and acute myelogenous leukemia.
Savage SA et al.
Seminars in Hematology, 2017
Allogeneic Transplant in ELANE and MEFV Mutation Positive Severe Cyclic Neutropenia: Review of Prognostic Factors for Secondary Severe Events.
Okolo ON et al.
Case Reports in Hematology, 2017
The diversity of mutations and clinical outcomes for ELANE-associated neutropenia.
Makaryan V et al.
Current Opinion in Hematology, 2015
Cooperativity of RUNX1 and CSF3R mutations in severe congenital neutropenia: a unique pathway in myeloid leukemogenesis.
Skokowa J et al.
Blood, 2014
The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.
Germeshausen M et al.
Human Mutation, 2013
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Neurodevelopmental abnormalities associated with severe congenital neutropenia due to the R86X mutation in the HAX1 gene.
Ishikawa N et al.
Journal of Medical Genetics, 2008
Bioinformatic analysis of protein structure-function relationships: case study of leukocyte elastase (ELA2) missense mutations.
Thusberg J et al.
Human Mutation, 2006