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
Case Report: Heterozygous out-of-frame frameshift variant in ELANE without evidence of neutropenia.
Li Y et al.
Frontiers in Immunology, 2025
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
Novel case of ELANE-related severe congenital neutropenia with initially normal bone marrow.
Keenan C et al.
Pediatric Blood & Cancer, 2023
Case Report: Characterization of known (c.607G>C) and novel (c.416C>G) ELANE mutations in two Mexican families with congenital neutropenia.
Núñez-Núñez ME et al.
Frontiers in Immunology, 2023
ELANE neutropenia and solid tumors: Four cases from the French severe chronic neutropenia registry.
Donadieu J et al.
Pediatric Blood & Cancer, 2022
Mutant allele knockout with novel CRISPR nuclease promotes myelopoiesis in ELANE neutropenia.
Sabo P et al.
Molecular Therapy. Methods & Clinical Development, 2022
The Clinical and Molecular Assessment of Iranian Families with Severe Congenital Neutropenia, Identification of HYOU1 and SHOC2 as Potential Novel Gene Defects.
Arab F et al.
Iranian Journal of Allergy, Asthma, and 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
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
Comparison of Gene Editing versus a Neutrophil Elastase Inhibitor as Potential Therapies for ELANE Neutropenia.
Makaryan V et al.
Journal of Cellular Immunology, 2022
Targeted NGS Yields Plentiful Ultra-Rare Variants in Inborn Errors of Immunity Patients.
Grossi A et al.
Genes, 2021
Dissecting ELANE neutropenia pathogenicity by human HSC gene editing.
Rao S et al.
Cell Stem Cell, 2021
PML-controlled responses in severe congenital neutropenia with ELANE-misfolding mutations.
Olofsen PA et al.
Blood Advances, 2021
Neutrophil Elastase Defects in Congenital Neutropenia.
Rydzynska Z et al.
Frontiers in Immunology, 2021
Clinical Utility of Whole Exome Sequencing and Targeted Panels for the Identification of Inborn Errors of Immunity in a Resource-Constrained Setting.
Engelbrecht C et al.
Frontiers in Immunology, 2021
Identification of pathogenic missense mutations using protein stability predictors.
Gerasimavicius L et al.
Scientific Reports, 2020
CRISPR/Cas9-mediated ELANE knockout enables neutrophilic maturation of primary hematopoietic stem and progenitor cells and induced pluripotent stem cells of severe congenital neutropenia patients.
Nasri M et al.
Haematologica, 2020
Both Granulocytic and Non-Granulocytic Blood Cells Are Affected in Patients with Severe Congenital Neutropenia and Their Non-Neutropenic Family Members: An Evaluation of Morphology, Function, and Cell Death
Olcay L et al.
Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2018
Elastase inhibitors as potential therapies for ELANE-associated neutropenia.
Makaryan V et al.
Journal of Leukocyte Biology, 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
Diagnostics of primary immunodeficiency diseases: a sequencing capture approach.
Moens LN et al.
Plos One, 2014
The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.
Germeshausen M et al.
Human Mutation, 2013
Four novel ELANE mutations in patients with congenital neutropenia.
Kurnikova M et al.
Pediatric Blood & Cancer, 2011
Bioinformatic analysis of protein structure-function relationships: case study of leukocyte elastase (ELA2) missense mutations.
Thusberg J et al.
Human Mutation, 2006