Associated Papers
Severe Congenital Neutropenia in a Newborn Caused by a Novel Mutation in the ELANE Gene-First Report From North Macedonia and a Literature Review: A Case Report.
Zdraveska N et al.
Case Reports in Pediatrics, 2025
Impact of different genetic mutations on granulocyte development and G-CSF responsiveness in congenital neutropenia.
Meng X et al.
Blood Advances, 2024
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
Mutant allele knockout with novel CRISPR nuclease promotes myelopoiesis in ELANE neutropenia.
Sabo P et al.
Molecular Therapy. Methods & Clinical Development, 2022
35795780 (PubMed )
Supplement: mmc1.pdf
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
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
35757720 (PubMed )
Supplement: DataSheet_1.pdf
Assessment of the gene mosaicism burden in blood and its implications for immune disorders.
Solís-Moruno M et al.
Scientific Reports, 2021
Jeffrey's insights: Jeffrey Modell Foundation's global genetic sequencing pilot program to identify specific primary immunodeficiency defects to optimize disease management and treatment.
Quinn J et al.
Immunologic Research, 2020
Unexpected relevant role of gene mosaicism in patients with primary immunodeficiency diseases.
Mensa-Vilaró A et al.
The Journal of Allergy and Clinical Immunology, 2019
Mosaicism of an ELANE Mutation in an Asymptomatic Mother.
Shigemura T et al.
Journal of Clinical Immunology, 2019
The diversity of mutations and clinical outcomes for ELANE-associated neutropenia.
Makaryan V et al.
Current Opinion in Hematology, 2015
Current insights into inherited bone marrow failure syndromes.
Chung NG et al.
Korean Journal of Pediatrics, 2014
Novel ELANE gene mutation in a Korean girl with severe congenital neutropenia.
Shim YJ et al.
Journal of Korean Medical Science, 2011
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