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Literature DB >> 27766632

Natural killer cell activity and dysfunction in Hermansky-Pudlak syndrome.

Aleksandra Gil-Krzewska¹, Yousuke Murakami¹, Giovanna Peruzzi¹, Kevin J O'Brien², Melissa A Merideth³, Andrew R Cullinane^3,4, William A Gahl^2,3, John E Coligan¹, Bernadette R Gochuico², Konrad Krzewski¹.

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.

Entities: CellLine Chemical Disease Gene Species

Keywords: Hermansky-Pudlak syndrome; NK cell; cytotoxicity; immune deficiency; lytic granule exocytosis

Mesh：

Year: 2016 PMID： 27766632 PMCID： PMC5177518 DOI： 10.1111/bjh.14390

Source DB: PubMed Journal: Br J Haematol ISSN： 0007-1048 Impact factor: 6.998

15 in total

1. Interstitial lung disease and pulmonary fibrosis in Hermansky-Pudlak syndrome type 2, an adaptor protein-3 complex disease.

Authors: Bernadette R Gochuico; Marjan Huizing; Gretchen A Golas; Charles D Scher; Maria Tsokos; Stacey D Denver; Melissa J Frei-Jones; William A Gahl
Journal: Mol Med Date: 2012-02-10 Impact factor: 6.354

2. Many NK cell receptors activate ERK2 and JNK1 to trigger microtubule organizing center and granule polarization and cytotoxicity.

Authors: Xi Chen; Prachi P Trivedi; Baoxue Ge; Konrad Krzewski; Jack L Strominger
Journal: Proc Natl Acad Sci U S A Date: 2007-03-29 Impact factor: 11.205

3. Nonsense mutations in ADTB3A cause complete deficiency of the beta3A subunit of adaptor complex-3 and severe Hermansky-Pudlak syndrome type 2.

Authors: Marjan Huizing; Charles D Scher; Erin Strovel; Diana L Fitzpatrick; Lisa M Hartnell; Yair Anikster; William A Gahl
Journal: Pediatr Res Date: 2002-02 Impact factor: 3.756

4. Regulation of human NK-cell cytokine and chemokine production by target cell recognition.

Authors: Cyril Fauriat; Eric O Long; Hans-Gustaf Ljunggren; Yenan T Bryceson
Journal: Blood Date: 2009-12-01 Impact factor: 22.113

5. CD28-stimulated ERK2 phosphorylation is required for polarization of the microtubule organizing center and granules in YTS NK cells.

Authors: Xi Chen; David S J Allan; Konrad Krzewski; Baoxue Ge; Hernan Kopcow; Jack L Strominger
Journal: Proc Natl Acad Sci U S A Date: 2006-06-26 Impact factor: 11.205

6. Chediak-Higashi syndrome: Lysosomal trafficking regulator domains regulate exocytosis of lytic granules but not cytokine secretion by natural killer cells.

Authors: Aleksandra Gil-Krzewska; Stephanie M Wood; Yousuke Murakami; Victoria Nguyen; Samuel C C Chiang; Andrew R Cullinane; Giovanna Peruzzi; William A Gahl; John E Coligan; Wendy J Introne; Yenan T Bryceson; Konrad Krzewski
Journal: J Allergy Clin Immunol Date: 2015-10-21 Impact factor: 10.793

7. Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse.

Authors: Richard H Clark; Jane C Stinchcombe; Anna Day; Emma Blott; Sarah Booth; Giovanna Bossi; Terry Hamblin; E Graham Davies; Gillian M Griffiths
Journal: Nat Immunol Date: 2003-10-19 Impact factor: 25.606

8. Impairment of dendritic cell functions in patients with adaptor protein-3 complex deficiency.

Authors: Alberto Prandini; Valentina Salvi; Francesca Colombo; Daniele Moratto; Luisa Lorenzi; William Vermi; Maria Antonia De Francesco; Lucia Dora Notarangelo; Fulvio Porta; Alessandro Plebani; Fabio Facchetti; Silvano Sozzani; Raffaele Badolato
Journal: Blood Date: 2016-05-13 Impact factor: 22.113

9. The risk of hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type 2.

Authors: Birthe Jessen; Sebastian F N Bode; Sandra Ammann; Subarna Chakravorty; Graham Davies; Jana Diestelhorst; Melissa Frei-Jones; William A Gahl; Bernadette R Gochuico; Matthias Griese; Gillian Griffiths; Gritta Janka; Christoph Klein; Tamara Kögl; Karin Kurnik; Kai Lehmberg; Andrea Maul-Pavicic; Andrew D Mumford; David Pace; Nima Parvaneh; Nima Rezaei; Geneviève de Saint Basile; Annette Schmitt-Graeff; Klaus Schwarz; Gulsun T Karasu; Barbara Zieger; Udo Zur Stadt; Peter Aichele; Stephan Ehl
Journal: Blood Date: 2013-02-12 Impact factor: 22.113

10. Granzymes A and B are targeted to the lytic granules of lymphocytes by the mannose-6-phosphate receptor.

Authors: G M Griffiths; S Isaaz
Journal: J Cell Biol Date: 1993-02 Impact factor: 10.539

6 in total

1. Clinical and molecular phenotyping of a child with Hermansky-Pudlak syndrome-7, an uncommon genetic type of HPS.

Authors: Melanie M Bryan; Nathanial J Tolman; Karen L Simon; Marjan Huizing; Robert B Hufnagel; Brian P Brooks; Vladislav Speransky; James C Mullikin; William A Gahl; May Christine V Malicdan; Bernadette R Gochuico
Journal: Mol Genet Metab Date: 2017-02-27 Impact factor: 4.797

2. Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant.

Authors: Chen G Han; Kevin J O'Brien; Lea M Coon; Julie A Majerus; Laryssa A Huryn; Sara G Haroutunian; Nagabhishek Moka; Wendy J Introne; Ellen Macnamara; William A Gahl; May Christine V Malicdan; Dong Chen; Koyamangalath Krishnan; Bernadette R Gochuico
Journal: Am J Med Genet A Date: 2018-10-04 Impact factor: 2.802