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Article

Rescue of STAT3 Function in Hyper-IgE Syndrome Using Adenine Base Editing.

The CRISPR journal - 1 Apr 2021

Eberherr Andreas C, Maaske Andre, Wolf Christine, Giesert Florian, Berutti Riccardo, Rusha Ejona, Pertek Anna, Kastlmeier Miriam T, Voss Carola, Plummer Michelle, Sayed Amina, Graf Elisabeth, Effner Renate, Volz Thomas, Drukker Micha, Strom Tim M, Meitinger Thomas, Stoeger Tobias, Buyx Alena M, Hagl Beate, Renner Ellen D

Abstract excerpt

STAT3-hyper IgE syndrome (STAT3-HIES) is a primary immunodeficiency presenting with destructive lung disease along with other symptoms. CRISPR-Cas9-mediated adenine base editors (ABEs) have the potential to correct one of the most common STAT3-HIES causing heterozygous STAT3 mutations (c.1144C>T/p.R382W). As a proof-of-concept, we successfully applied ABEs to correct STAT3 p.R382W in patient fibroblasts and...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33876960
DOI: 10.1089/crispr.2020.0111

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