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Natural killer cell activity and dysfunction in Hermansky-Pudlak syndrome.
Gil-Krzewska, Aleksandra; Murakami, Yousuke; Peruzzi, Giovanna; O'Brien, Kevin J; Merideth, Melissa A; Cullinane, Andrew R; Gahl, William A; Coligan, John E; Gochuico, Bernadette R; Krzewski, Konrad.
Afiliação
  • Gil-Krzewska A; Receptor Cell Biology Section, Laboratory of Immunogenetics, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Rockville, MD, USA.
  • Murakami Y; Receptor Cell Biology Section, Laboratory of Immunogenetics, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Rockville, MD, USA.
  • Peruzzi G; Receptor Cell Biology Section, Laboratory of Immunogenetics, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Rockville, MD, USA.
  • O'Brien KJ; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Merideth MA; Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Cullinane AR; Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Gahl WA; Department of Anatomy, College of Medicine, Howard University, Washington, DC, USA.
  • Coligan JE; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Gochuico BR; Section on Human Biochemical Genetics, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
  • Krzewski K; Receptor Cell Biology Section, Laboratory of Immunogenetics, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Rockville, MD, USA.
Br J Haematol ; 176(1): 118-123, 2017 Jan.
Article em En | MEDLINE | ID: mdl-27766632
ABSTRACT
Hermansky-Pudlak syndrome (HPS) encompasses disorders with abnormal function of lysosomes and lysosome-related organelles, and some patients who develop immunodeficiency. The basic mechanisms contributing to immune dysfunction in HPS are ill-defined. We analysed natural killer (NK) cells from patients diagnosed with HPS-1, HPS-2, HPS-4, and an unreported HPS subtype. NK cells from an HPS-2 and an unreported HPS subtype share a similar cellular phenotype with defective granule release and cytotoxicity, but differ in cytokine exocytosis. Defining NK cell activity in several types of HPS provides insights into cellular defects of the disorder and understanding of mechanisms contributing to HPS pathogenesis.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Células Matadoras Naturais / Síndrome de Hermanski-Pudlak Tipo de estudo: Etiology_studies Limite: Humans Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
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Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Células Matadoras Naturais / Síndrome de Hermanski-Pudlak Tipo de estudo: Etiology_studies Limite: Humans Idioma: En Ano de publicação: 2017 Tipo de documento: Article