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Article

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

Molecular therapy : the journal of the American Society of Gene Therapy - 2 Dec 2020

Tran Ngoc Tung, Graf Robin, Wulf-Goldenberg Annika, Stecklum Maria, Strauß Gabriele, Kühn Ralf, Kocks Christine, Rajewsky Klaus, Chu Van Trung

Abstract excerpt

Severe congenital neutropenia (SCN) is a monogenic disorder. SCN patients are prone to recurrent life-threatening infections. The main causes of SCN are autosomal dominant mutations in the ELANE gene that lead to a block in neutrophil differentiation. In this study, we use CRISPR-Cas9 ribonucleoproteins and adeno-associated virus (AAV)6 as a donor template delivery system to repair the ELANEL172P mutation in SCN...

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Identifiers

PMID: 32822592
DOI: 10.1016/j.ymthe.2020.08.004
PMCID: PMC7704744

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.

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CRISPR-Cas9-Mediated ELANE Mutation Correction in Hematopoietic Stem and Progenitor Cells to Treat Severe Congenital Neutropenia.PMID 32822592Read ↗

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