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The basic mechanisms contributing to immune dysfunction in <jats:styled-content style=\"fixed-case\">HPS<\/jats:styled-content> are ill\u2010defined. We analysed natural killer (<jats:styled-content style=\"fixed-case\">NK<\/jats:styled-content>) cells from patients diagnosed with <jats:styled-content style=\"fixed-case\">HPS<\/jats:styled-content>\u20101, <jats:styled-content style=\"fixed-case\">HPS<\/jats:styled-content>\u20102, <jats:styled-content style=\"fixed-case\">HPS<\/jats:styled-content>\u20104, and an unreported <jats:styled-content style=\"fixed-case\">HPS<\/jats:styled-content> subtype. <jats:styled-content style=\"fixed-case\">NK<\/jats:styled-content> cells from an <jats:styled-content style=\"fixed-case\">HPS<\/jats:styled-content>\u20102 and an unreported <jats:styled-content style=\"fixed-case\">HPS<\/jats:styled-content> subtype share a similar cellular phenotype with defective granule release and cytotoxicity, but differ in cytokine exocytosis. Defining <jats:styled-content style=\"fixed-case\">NK<\/jats:styled-content> cell activity in several types of <jats:styled-content style=\"fixed-case\">HPS<\/jats:styled-content> provides insights into cellular defects of the disorder and understanding of mechanisms contributing to <jats:styled-content style=\"fixed-case\">HPS<\/jats:styled-content> pathogenesis.<\/jats:p>","DOI":"10.1111\/bjh.14390","type":"journal-article","created":{"date-parts":[[2016,10,21]],"date-time":"2016-10-21T07:52:42Z","timestamp":1477036362000},"page":"118-123","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":17,"title":["Natural killer cell activity and dysfunction in Hermansky\u2010Pudlak syndrome"],"prefix":"10.1111","volume":"176","author":[{"given":"Aleksandra","family":"Gil\u2010Krzewska","sequence":"first","affiliation":[{"name":"Receptor Cell Biology Section Laboratory of Immunogenetics National Institute of Allergy and Infectious Diseases National Institutes of Health Rockville MD USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yousuke","family":"Murakami","sequence":"additional","affiliation":[{"name":"Receptor Cell Biology Section Laboratory of Immunogenetics National Institute of Allergy and Infectious Diseases National Institutes of Health Rockville MD USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanna","family":"Peruzzi","sequence":"additional","affiliation":[{"name":"Receptor Cell Biology Section Laboratory of Immunogenetics National Institute of Allergy and Infectious Diseases National Institutes of Health Rockville MD USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kevin J.","family":"O'Brien","sequence":"additional","affiliation":[{"name":"Office of the Clinical Director National Human Genome Research Institute National Institutes of Health Bethesda MD USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melissa 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