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Since NK cells contribute to immune defense against virally infected cells, patients with NKD experience higher susceptibility to chronic, recurrent, and fatal viral infections. An individual with recurrent viral infections and mild hypogammaglobulinemia was identified to have an X-linked damaging variant in the transcription factor gene\n                    <jats:italic>ELF4<\/jats:italic>\n                    . The variant does not decrease expression but disrupts ELF4 protein interactions and DNA binding, reducing transcriptional activation of target genes and selectively impairing ELF4 function. Corroborating previous murine models of ELF4 deficiency (\n                    <jats:italic>\n                      Elf4\n                      <jats:sup>\u2013\/\u2013<\/jats:sup>\n                    <\/jats:italic>\n                    ) and using a knockdown human NK cell line, we determined that ELF4 is necessary for normal NK cell development, terminal maturation, and function. Through characterization of the NK cells of the proband, expression of the proband\u2019s variant in\n                    <jats:italic>\n                      Elf4\n                      <jats:sup>\u2013\/\u2013<\/jats:sup>\n                    <\/jats:italic>\n                    mouse hematopoietic precursor cells, and a human in vitro NK cell maturation model, we established this\n                    <jats:italic>ELF4<\/jats:italic>\n                    variant as a potentially novel cause of NKD.\n                  <\/jats:p>","DOI":"10.1172\/jci.insight.155481","type":"journal-article","created":{"date-parts":[[2022,12,7]],"date-time":"2022-12-07T14:01:03Z","timestamp":1670421663000},"source":"Crossref","is-referenced-by-count":12,"title":["An ELF4 hypomorphic variant results in NK cell deficiency"],"prefix":"10.1172","volume":"7","author":[{"given":"Sandra Andrea","family":"Salinas","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Baylor College of Medicine, 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