Associated Papers
Two rare case reports of familial cyclic neutropenia caused by ELANE gene mutation.
Wang K et al.
Medicine, 2026
Clinical usefulness of next-generation sequencing-based target gene sequencing in diagnosis of inherited bone marrow failure syndrome.
Kwon YD et al.
Annals of Hematology, 2025
The genetic landscape of congenital neutropenia in Poland: summary of the nationwide screening campaign.
Bąbol-Pokora K 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
Whole-exome sequencing to identify undiagnosed primary immunodeficiency disorders in children with community-acquired sepsis, admitted in the pediatric intensive care unit.
Rayzan E et al.
Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology, 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
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
Clinical and molecular characteristics of Thai patients with ELANE-related neutropaenia.
Ittiwut R et al.
Journal of Clinical Pathology, 2022
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
Genetic screening of children with marrow failure. The role of primary Immunodeficiencies.
Miano M et al.
American Journal of Hematology, 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
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
Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels.
Lauhasurayotin S et al.
Npj Genomic Medicine, 2019
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
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
ELANE mutant-specific activation of different UPR pathways in congenital neutropenia.
Nustede R et al.
British Journal of Haematology, 2016
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
A lack of secretory leukocyte protease inhibitor (SLPI) causes defects in granulocytic differentiation.
Klimenkova O et al.
Blood, 2014
Intermittent neutropenia as an early feature of mild mevalonate kinase deficiency.
Parvaneh N et al.
Journal of Clinical Immunology, 2014
The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.
Germeshausen M et al.
Human Mutation, 2013
Integrating structure to protein-protein interaction networks that drive metastasis to brain and lung in breast cancer.
Engin HB et al.
Plos One, 2013
Coexistence of sickle cell disease and severe congenital neutropenia: first impressions can be deceiving.
Wali Y et al.
European Journal of Haematology, 2012
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