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Article

CRISPR-Cas9n-mediated ELANE promoter editing for gene therapy of severe congenital neutropenia.

Molecular therapy : the journal of the American Society of Gene Therapy - 5 Jun 2024

Nasri Masoud, Ritter Malte U, Mir Perihan, Dannenmann Benjamin, Kaufmann Masako M, Arreba-Tutusaus Patricia, Xu Yun, Borbaran-Bravo Natalia, Klimiankou Maksim, Lengerke Claudia, Zeidler Cornelia, Cathomen Toni, Welte Karl, Skokowa Julia

Abstract excerpt

Severe congenital neutropenia (CN) is an inherited pre-leukemia bone marrow failure syndrome commonly caused by autosomal-dominant ELANE mutations (ELANE-CN). ELANE-CN patients are treated with daily injections of recombinant human granulocyte colony-stimulating factor (rhG-CSF). However, some patients do not respond to rhG-CSF, and approximately 15% of ELANE-CN patients develop myelodysplasia or acute myeloid...

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Source

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Identifiers

PMID: 38556793
DOI: 10.1016/j.ymthe.2024.03.037
PMCID: PMC11184331

Genes

ELANE
CD34
CAST

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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CRISPR-Cas9n-mediated ELANE promoter editing for gene therapy of severe congenital neutropenia.PMID 38556793Read ↗

Comparison of Gene-Editing Approaches for Severe Congenital Neutropenia-Causing Mutations in the ELANE Gene.Semantic proximity Read ↗

CRISPR-Cas9-Mediated ELANE Mutation Correction in Hematopoietic Stem and Progenitor Cells to Treat Severe Congenital Neutropenia.Semantic proximity Read ↗

Dissecting ELANE neutropenia pathogenicity by human HSC gene editing.Semantic proximity Read ↗

CRISPR/Cas9-mediated ELANE knockout enables neutrophilic maturation of primary hematopoietic stem and progenitor cells and induced pluripotent stem cells of severe congenital neutropenia patientsSemantic proximity Read ↗

Pathogenesis of ELANE-mutant severe neutropenia revealed by induced pluripotent stem cellsSemantic proximity Read ↗

Paternal germline mosaicism of a missense mutation in ELANE in a Chinese male with severe congenital neutropeniaSemantic proximity Read ↗

A patient with severe congenital neutropenia harbors a missense ELANE mutation due to paternal germline mosaicism.Semantic proximity Read ↗

Exagamglogene Autotemcel for Severe Sickle Cell DiseaseSemantic proximity Read ↗

The spectrum of ELANE mutations and their implications in severe congenital and cyclic neutropenia.Semantic proximity Read ↗

Cas9 <sup>+</sup> conditionally immortalized neutrophil progenitors as a tool for genome wide CRISPR screening for neutrophil differentiation and functionSemantic proximity Read ↗

Inducible expression of a disease-associated ELANE mutation impairs granulocytic differentiation, without eliciting an unfolded protein responseSemantic proximity Read ↗

Gene editing without <i>ex vivo</i> culture evades genotoxicity in human hematopoietic stem cellsSemantic proximity Read ↗

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