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dc.contributor.author
Glembotsky, Ana Claudia
dc.contributor.author
de Luca, Geraldine
dc.contributor.author
Heller, Paula Graciela
dc.date.available
2022-09-01T13:00:11Z
dc.date.issued
2021-08
dc.identifier.citation
Glembotsky, Ana Claudia; de Luca, Geraldine; Heller, Paula Graciela; A deep dive into the pathology of gray platelet syndrome: new insights on immune dysregulation; Dove Press; Journal of Blood Medicine; 12; 8-2021; 719-732
dc.identifier.issn
1179-2736
dc.identifier.uri
http://hdl.handle.net/11336/167136
dc.description.abstract
The gray platelet syndrome (GPS) is a rare platelet disorder, characterized by impaired alpha-granule biogenesis in megakaryocytes and platelets due to NBEAL2 muta-tions. Typical clinical features include macrothrombocytopenia, bleeding and elevated vita-min B12 levels, while bone marrow fibrosis and splenomegaly may develop during disease progression. Recently, the involvement of other blood lineages has been highlighted, reveal-ing the role of NBEAL2 outside the megakaryocyte-platelet axis. Low leukocyte counts, decreased neutrophil granulation and impaired neutrophil extracellular trap formation repre-sent prominent findings in GPS patients, reflecting deranged innate immunity and associated with an increased susceptibility to infection. In addition, low numbers and impaired degra-nulation of NK cells have been demonstrated in animal models. Autoimmune diseases involving different organs and a spectrum of autoantibodies are present in a substantial proportion of GPS patients, expanding the syndromic spectrum of this disorder and pointing to dysregulation of the adaptive immune response. Low-grade inflammation, as evidenced by elevation of liver-derived acute-phase reactants, is another previously unrecognized feature of GPS which may contribute to disease manifestations. This review will focus on the mechanisms underlying the pathogenesis of blood cell abnormalities in human GPS patients and NBEAL2-null animal models, providing insight into the effects of NBEAL2 in hemos-tasis, inflammation and immunity.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Dove Press
dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by-nc/2.5/ar/
dc.subject
GRAY PLATELET SYNDROME
dc.subject
IMMUNE DYSREGULATION
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NBEAL2
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NEUTROPHILS
dc.subject
Α-GRANULES
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Hematología
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Medicina Clínica
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CIENCIAS MÉDICAS Y DE LA SALUD
dc.title
A deep dive into the pathology of gray platelet syndrome: new insights on immune dysregulation
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2022-08-25T12:40:26Z
dc.journal.volume
12
dc.journal.pagination
719-732
dc.journal.pais
Reino Unido
dc.journal.ciudad
Macclesfield
dc.description.fil
Fil: Glembotsky, Ana Claudia. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina
dc.description.fil
Fil: de Luca, Geraldine. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina
dc.description.fil
Fil: Heller, Paula Graciela. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Houssay. Instituto de Investigaciones Médicas. Universidad de Buenos Aires. Facultad de Medicina. Instituto de Investigaciones Médicas; Argentina
dc.journal.title
Journal of Blood Medicine
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://www.dovepress.com/a-deep-dive-into-the-pathology-of-gray-platelet-syndrome-new-insights--peer-reviewed-fulltext-article-JBM
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.2147/JBM.S270018
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