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Three categories of \u03b2-actin\u2013related diseases with over 60 ACTB (\u03b2-actin) variants have previously been identified, none with a distinct NK cell phenotype. An individual with mild developmental delay, macrothrombocytopenia, and susceptibility to infections, molluscum contagiosum virus, and EBV-associated lymphoma had functional NKD for over a decade. A de novo ACTB variant encoding G342D \u03b2-actin was identified and was consistent with the individual\u2019s developmental and platelet phenotype. This novel variant also was found to have direct impact in NK cells because its expression in the human NK cell line YTS (YTS-NKD) caused increased cell spreading in lytic immune synapses created on activating surfaces. YTS-NKD cells were able to degranulate and perform cytotoxicity, but they demonstrated defective serial killing because of prolonged conjugation to the killed target cell and thus were effectively unable to terminate lytic synapses. G342D \u03b2-actin results in a novel, to our knowledge, mechanism of functional NKD via increased synaptic spreading and defective lytic synapse termination with resulting impaired serial killing, leading to overall reductions in NK cell cytotoxicity.<\/jats:p>","DOI":"10.4049\/jimmunol.2300671","type":"journal-article","created":{"date-parts":[[2024,2,5]],"date-time":"2024-02-05T14:02:10Z","timestamp":1707141730000},"page":"962-973","source":"Crossref","is-referenced-by-count":8,"title":["\u03b2-Actin G342D as a Cause of NK Cell Deficiency Impairing Lytic Synapse Termination"],"prefix":"10.1093","volume":"212","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3872-0770","authenticated-orcid":false,"given":"Abigail E","family":"Reed","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Columbia University Irving Medical Center , New York, NY"},{"name":"Department of Microbiology and Immunology, Columbia University Irving Medical Center , New York, NY"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-2594-2378","authenticated-orcid":false,"given":"Jackeline","family":"Peraza","sequence":"additional","affiliation":[{"name":"Department of Biology, Barnard College of Columbia University , New York, NY"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0002-4362-6444","authenticated-orcid":false,"given":"Frederique","family":"van den Haak","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Columbia University Irving Medical Center , New York, NY"},{"name":"Department of Microbiology and Immunology, Columbia University Irving Medical Center , New York, NY"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Evelyn R","family":"Hernandez","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Columbia University Irving Medical Center , New York, NY"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard A","family":"Gibbs","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Human Genome Sequencing Center, Baylor College of Medicine , Houston, TX"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5684-5457","authenticated-orcid":false,"given":"Ivan K","family":"Chinn","sequence":"additional","affiliation":[{"name":"Division of Immunology, Allergy and Retrovirology, Department of Pediatrics, Texas Children\u2019s Hospital and Baylor College of Medicine , Houston, TX"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9907-9246","authenticated-orcid":false,"given":"James R","family":"Lupski","sequence":"additional","affiliation":[{"name":"Department of Molecular and Human Genetics, Human Genome Sequencing Center, Texas Children\u2019s Hospital and Baylor College of Medicine , Houston, TX"},{"name":"Department of Pediatrics, Texas Children\u2019s Hospital and Baylor College of Medicine , Houston, TX"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Enrica","family":"Marchi","sequence":"additional","affiliation":[{"name":"Division of Hematology-Oncology, Department of Medicine, NCI Designated Cancer Center, University of Virginia , Charlottesville, VA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ran","family":"Reshef","sequence":"additional","affiliation":[{"name":"Blood and Marrow Transplantation and Cell Therapy Program, Columbia University Irving Medical Center , New York, NY"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bachir","family":"Alobeid","sequence":"additional","affiliation":[{"name":"Department of Pathology and Cell Biology, Columbia University Irving Medical Center , New York, NY"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0226-7393","authenticated-orcid":false,"given":"Emily M","family":"Mace","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Columbia University Irving Medical Center , New York, NY"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jordan S","family":"Orange","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Columbia University Irving Medical Center , New York, NY"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2024,2,5]]},"reference":[{"key":"2025020405463948000_r1","doi-asserted-by":"crossref","first-page":"1473","DOI":"10.1007\/s10875-022-01289-3","article-title":"Human inborn errors of immunity: 2022 update on the classification from the international union of immunological societies expert committee","volume":"42","author":"Tangye","year":"2022","journal-title":"J. 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