{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T13:35:34Z","timestamp":1778679334816,"version":"3.51.4"},"reference-count":60,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2021,4,1]],"date-time":"2021-04-01T00:00:00Z","timestamp":1617235200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["The CRISPR Journal"],"published-print":{"date-parts":[[2021,4,1]]},"abstract":"<jats:p>\n                    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\n                    <jats:italic toggle=\"yes\">STAT3<\/jats:italic>\n                    mutations (c.1144C&gt;T\/p.R382W). As a proof-of-concept, we successfully applied ABEs to correct\n                    <jats:italic toggle=\"yes\">STAT3<\/jats:italic>\n                    p.R382W in patient fibroblasts and induced pluripotent stem cells (iPSCs). Treated primary STAT3-HIES patient fibroblasts showed a correction efficiency of 29%\u2009\u00b1\u20097% without detectable off-target effects evaluated through whole-genome and high-throughput sequencing. Compared with untreated patient fibroblasts, corrected single-cell clones showed functional rescue of STAT3 signaling with significantly increased STAT3 DNA-binding activity and target gene expression of\n                    <jats:italic toggle=\"yes\">CCL2<\/jats:italic>\n                    and\n                    <jats:italic toggle=\"yes\">SOCS3<\/jats:italic>\n                    . Patient-derived iPSCs were corrected with an efficiency of 30%\u2009\u00b1\u20096% and differentiated to alveolar organoids showing preserved plasticity in treated cells. In conclusion, our results are supportive for ABE-based gene correction as a potential causative treatment of STAT3-HIES.\n                  <\/jats:p>","DOI":"10.1089\/crispr.2020.0111","type":"journal-article","created":{"date-parts":[[2021,4,20]],"date-time":"2021-04-20T10:05:07Z","timestamp":1618913107000},"page":"178-190","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":13,"title":["Rescue of STAT3 Function in Hyper-IgE Syndrome Using Adenine Base Editing"],"prefix":"10.1177","volume":"4","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9330-9650","authenticated-orcid":false,"given":"Andreas C.","family":"Eberherr","sequence":"first","affiliation":[{"name":"Translational Immunology in Environmental Medicine, Klinikum Rechts der Isar, Technical University of Munich, Munich, Germany; Technical University of Munich, Munich, Germany."},{"name":"Translational Immunology, Institute of Environmental Medicine, Helmholtz Zentrum Munich, Neuherberg, Germany; Technical University of Munich, Munich, Germany."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andre","family":"Maaske","sequence":"additional","affiliation":[{"name":"Translational Immunology in Environmental Medicine, Klinikum Rechts der Isar, Technical University of Munich, Munich, Germany; Technical University of Munich, Munich, Germany."},{"name":"Translational Immunology, Institute of Environmental Medicine, Helmholtz Zentrum Munich, Neuherberg, Germany; Technical University of Munich, Munich, Germany."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Wolf","sequence":"additional","affiliation":[{"name":"Translational Immunology in Environmental Medicine, Klinikum Rechts der Isar, Technical University of Munich, Munich, Germany; Technical University of Munich, Munich, Germany."},{"name":"Translational Immunology, Institute of Environmental Medicine, Helmholtz Zentrum Munich, Neuherberg, Germany; Technical University of Munich, Munich, Germany."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Florian","family":"Giesert","sequence":"additional","affiliation":[{"name":"Institute of Developmental Genetics, Helmholtz Zentrum Munich, Neuherberg, Germany; Technical University of Munich, Munich, Germany."},{"name":"Chair of Developmental Genetics, Technical University of Munich, Munich, Germany; Technical University of Munich, Munich, Germany."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Riccardo","family":"Berutti","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Technical University of Munich, Munich, Germany; Technical University of Munich, Munich, Germany."},{"name":"Institute of Human Genetics, Helmholtz Zentrum Munich, Neuherberg, Germany; Technical University of Munich, Munich, Germany."},{"name":"Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg, Germany; Technical University of Munich, Munich, Germany."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ejona","family":"Rusha","sequence":"additional","affiliation":[{"name":"iPSC Core Facility, Institute of Stem Cell Research, Helmholtz Zentrum Munich, Neuherberg, Germany; Technical University of Munich, Munich, Germany."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Pertek","sequence":"additional","affiliation":[{"name":"iPSC Core Facility, Institute of Stem Cell Research, Helmholtz Zentrum Munich, Neuherberg, Germany; Technical University of Munich, Munich, Germany."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miriam T.","family":"Kastlmeier","sequence":"additional","affiliation":[{"name":"Institute of Lung Biology and Disease, Helmholtz Zentrum Munich, Neuherberg, Germany; Technical University of Munich, Munich, Germany."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Carola","family":"Voss","sequence":"additional","affiliation":[{"name":"Institute of Lung Biology and Disease, Helmholtz Zentrum Munich, Neuherberg, Germany; Technical University of Munich, Munich, Germany."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michelle","family":"Plummer","sequence":"additional","affiliation":[{"name":"Translational Immunology in Environmental Medicine, Klinikum Rechts der Isar, Technical University of Munich, Munich, Germany; Technical University of Munich, Munich, Germany."},{"name":"Translational Immunology, Institute of Environmental Medicine, Helmholtz Zentrum Munich, Neuherberg, Germany; Technical University of Munich, Munich, Germany."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amina","family":"Sayed","sequence":"additional","affiliation":[{"name":"Translational Immunology in Environmental Medicine, Klinikum Rechts der Isar, Technical University of Munich, Munich, Germany; Technical University of Munich, Munich, Germany."},{"name":"Translational Immunology, Institute of Environmental Medicine, Helmholtz Zentrum Munich, Neuherberg, Germany; Technical University of Munich, Munich, Germany."},{"name":"Institute of Lung Biology and Disease, Helmholtz Zentrum Munich, Neuherberg, Germany; Technical University of Munich, Munich, Germany."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisabeth","family":"Graf","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Helmholtz Zentrum Munich, Neuherberg, Germany; Technical University of Munich, Munich, Germany."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Renate","family":"Effner","sequence":"additional","affiliation":[{"name":"Translational Immunology in Environmental Medicine, Klinikum Rechts der Isar, Technical University of Munich, Munich, Germany; Technical University of Munich, Munich, Germany."},{"name":"Translational Immunology, Institute of Environmental Medicine, Helmholtz Zentrum Munich, Neuherberg, Germany; Technical University of Munich, Munich, Germany."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Volz","sequence":"additional","affiliation":[{"name":"Department of Dermatology and Allergology, Klinikum Rechts der Isar, Technical University of Munich, Munich, Germany; and Technical University of Munich, Munich, Germany."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Micha","family":"Drukker","sequence":"additional","affiliation":[{"name":"iPSC Core Facility, Institute of Stem Cell Research, Helmholtz Zentrum Munich, Neuherberg, Germany; Technical University of Munich, Munich, Germany."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tim M.","family":"Strom","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Technical University of Munich, Munich, Germany; Technical University of Munich, Munich, Germany."},{"name":"Institute of Human Genetics, Helmholtz Zentrum Munich, Neuherberg, Germany; Technical University of Munich, Munich, Germany."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Meitinger","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, Technical University of Munich, Munich, Germany; Technical University of Munich, Munich, Germany."},{"name":"Institute of Human Genetics, Helmholtz Zentrum Munich, Neuherberg, Germany; Technical University of Munich, Munich, Germany."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tobias","family":"Stoeger","sequence":"additional","affiliation":[{"name":"Institute of Lung Biology and Disease, Helmholtz Zentrum Munich, Neuherberg, Germany; Technical University of Munich, Munich, Germany."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alena M.","family":"Buyx","sequence":"additional","affiliation":[{"name":"Institute for History and Ethics of Medicine, Technical University of Munich, Munich, Germany."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beate","family":"Hagl","sequence":"additional","affiliation":[{"name":"Translational Immunology in Environmental Medicine, Klinikum Rechts der Isar, Technical University of Munich, Munich, Germany; Technical University of Munich, Munich, Germany."},{"name":"Translational Immunology, Institute of Environmental Medicine, Helmholtz Zentrum Munich, Neuherberg, Germany; Technical University of Munich, Munich, Germany."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ellen D.","family":"Renner","sequence":"additional","affiliation":[{"name":"Translational Immunology in Environmental Medicine, Klinikum Rechts der Isar, Technical University of Munich, Munich, Germany; Technical University of Munich, Munich, Germany."},{"name":"Translational Immunology, Institute of Environmental Medicine, Helmholtz Zentrum Munich, Neuherberg, Germany; Technical University of Munich, Munich, Germany."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2021,4,20]]},"reference":[{"key":"e_1_3_6_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature06096"},{"key":"e_1_3_6_3_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa073687"},{"key":"e_1_3_6_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2008.04.037"},{"key":"e_1_3_6_5_2","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0b013e31825f95b9"},{"key":"e_1_3_6_6_2","doi-asserted-by":"publisher","DOI":"10.1111\/pai.12512"},{"key":"e_1_3_6_7_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-013-9890-5"},{"key":"e_1_3_6_8_2","doi-asserted-by":"publisher","DOI":"10.1111\/all.13753"},{"key":"e_1_3_6_9_2","volume-title":"In: GeneReviews\u00ae\n                  . (Adam MP, Ardinger HH, Pagon RA, et al.; eds)","author":"Hsu AP","year":"1993","unstructured":"Hsu AP, , Davis J, , Puck JM, et al. STAT3 hyper IgE syndrome. In: GeneReviews\u00ae. (Adam MP, Ardinger HH, Pagon RA, et al.; eds). Seattle, WA: University of Washington, Seattle. 1993."},{"key":"e_1_3_6_10_2","doi-asserted-by":"publisher","DOI":"10.3389\/fped.2019.00295"},{"key":"e_1_3_6_11_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10875-016-0278-1"},{"key":"e_1_3_6_12_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature24644"},{"key":"e_1_3_6_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jaci.2016.04.020"},{"key":"e_1_3_6_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.stemcr.2013.10.007"},{"key":"e_1_3_6_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/nbt1163"},{"key":"e_1_3_6_16_2","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2012.116"},{"key":"e_1_3_6_17_2","doi-asserted-by":"publisher","DOI":"10.1006\/meth.2001.1262"},{"key":"e_1_3_6_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.stem.2017.08.014"},{"key":"e_1_3_6_19_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41596-019-0220-0"},{"key":"e_1_3_6_20_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI89950"},{"key":"e_1_3_6_21_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0124633"},{"key":"e_1_3_6_22_2","doi-asserted-by":"publisher","DOI":"10.1002\/cpbi.29"},{"key":"e_1_3_6_23_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gky354"},{"key":"e_1_3_6_24_2","doi-asserted-by":"publisher","DOI":"10.1089\/crispr.2018.0014"},{"key":"e_1_3_6_25_2","doi-asserted-by":"publisher","DOI":"10.1101\/gr.107524.110"},{"key":"e_1_3_6_26_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41587-019-0054-x"},{"key":"e_1_3_6_27_2","doi-asserted-by":"publisher","DOI":"10.1002\/0471250953.bi0410s05"},{"key":"e_1_3_6_28_2","doi-asserted-by":"publisher","DOI":"10.1002\/0471250953.bi0410s25"},{"key":"e_1_3_6_29_2","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.1363"},{"key":"e_1_3_6_30_2","doi-asserted-by":"publisher","DOI":"10.1002\/0471250953.bi1506s45"},{"key":"e_1_3_6_31_2","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bts378"},{"key":"e_1_3_6_32_2","doi-asserted-by":"publisher","DOI":"10.1101\/gr.114876.110"},{"key":"e_1_3_6_33_2","doi-asserted-by":"publisher","DOI":"10.1186\/gb-2014-15-6-r84"},{"key":"e_1_3_6_34_2","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btv710"},{"key":"e_1_3_6_35_2","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btp394"},{"key":"e_1_3_6_36_2","doi-asserted-by":"publisher","DOI":"10.1007\/978-1-4939-8666-8_7"},{"key":"e_1_3_6_37_2","doi-asserted-by":"publisher","DOI":"10.1158\/0008-5472.CAN-17-0337"},{"key":"e_1_3_6_38_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41591-019-0738-2"},{"key":"e_1_3_6_39_2","first-page":"4167","article-title":"Impaired angiogenesis and extracellular matrix metabolism in autosomal-dominant hyper-IgE syndrome","volume":"130","author":"Dmitrieva NI","year":"2020","unstructured":"Dmitrieva NI, , Walts AD, , Nguyen DP, et al. Impaired angiogenesis and extracellular matrix metabolism in autosomal-dominant hyper-IgE syndrome. J Clin Invest. 2020; 130:4167\u20134181. DOI: 10.1172\/JCI135490.","journal-title":"J Clin Invest"},{"key":"e_1_3_6_40_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41587-019-0074-6"},{"key":"e_1_3_6_41_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-018-07322-7"},{"key":"e_1_3_6_42_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41467-018-04768-7"},{"key":"e_1_3_6_43_2","doi-asserted-by":"publisher","DOI":"10.1101\/gr.171322.113"},{"key":"e_1_3_6_44_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.aaw7166"},{"key":"e_1_3_6_45_2","doi-asserted-by":"publisher","DOI":"10.1038\/ncomms11047"},{"key":"e_1_3_6_46_2","doi-asserted-by":"publisher","DOI":"10.1158\/2326-6066.CIR-15-0061"},{"key":"e_1_3_6_47_2","doi-asserted-by":"publisher","DOI":"10.1038\/nbt.4172"},{"key":"e_1_3_6_48_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymthe.2019.05.013"},{"key":"e_1_3_6_49_2","doi-asserted-by":"publisher","DOI":"10.1038\/nbt.4148"},{"key":"e_1_3_6_50_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41551-019-0357-8"},{"key":"e_1_3_6_51_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41586-020-03086-7"},{"key":"e_1_3_6_52_2","doi-asserted-by":"publisher","DOI":"10.1126\/sciadv.aax5717"},{"key":"e_1_3_6_53_2","doi-asserted-by":"publisher","DOI":"10.1038\/nbt.1733"},{"key":"e_1_3_6_54_2","doi-asserted-by":"publisher","DOI":"10.1038\/nbt.3241"},{"key":"e_1_3_6_55_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41551-019-0501-5"},{"key":"e_1_3_6_56_2","unstructured":"NCOB. Genome editing\u2014An ethical review. London England: Nuffield Council on Bioethics. 2016."},{"key":"e_1_3_6_57_2","volume-title":"Human genome editing: Science, ethics, and governance","author":"National Academies of Sciences Engineering","year":"2017","unstructured":"National Academies of Sciences Engineering, , and Medicine; National Academy of Medicine; National Academy of Sciences; Committee on Human Gene Editing. Human Genome Editing: Science, Ethics, and Governance. Human genome editing: Science, ethics, and governance. Washington, DC: National Academies Press. 2017."},{"key":"e_1_3_6_58_2","unstructured":"NCOB. Patient access to experimental treatments. Bioethics Briefing Note of the Nuffield Council on Bioethics. 2018."},{"key":"e_1_3_6_59_2","unstructured":"WHO launches global registry on human genome editing. https:\/\/www.who.int\/news\/item\/29-08-2019-who-launches-global-registry-on-human-genome-editing (last accessed April12 2021)."},{"key":"e_1_3_6_60_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41431-018-0309-x"},{"key":"e_1_3_6_61_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13073-017-0475-4"}],"container-title":["The CRISPR Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1089\/crispr.2020.0111","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/crispr.2020.0111","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1089\/crispr.2020.0111","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T12:51:11Z","timestamp":1777639871000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1089\/crispr.2020.0111"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,4,1]]},"references-count":60,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2021,4,1]]}},"alternative-id":["10.1089\/crispr.2020.0111"],"URL":"https:\/\/doi.org\/10.1089\/crispr.2020.0111","relation":{},"ISSN":["2573-1599","2573-1602"],"issn-type":[{"value":"2573-1599","type":"print"},{"value":"2573-1602","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,4,1]]}}}