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Immune dysregulation, autoimmunity, and granule defects in gray platelet syndrome.
Collins, Janine H; Mayer, Louisa; Guerrero Lopez, Jose Antonio.
Affiliation
  • Collins JH; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, UK; Department of Haematology, Barts Health National Health Service Trust, London, UK.
  • Mayer L; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, UK.
  • Guerrero Lopez JA; Department of Haematology, University of Cambridge, Cambridge Biomedical Campus, Cambridge, UK; National Health Service Blood and Transplant, Cambridge Biomedical Campus, Cambridge, UK; Medical Research Council Toxicology Unit, University of Cambridge, Cambridge, UK. Electronic address: jg652@cam.ac.uk.
J Thromb Haemost ; 21(6): 1409-1419, 2023 06.
Article de En | MEDLINE | ID: mdl-37028650
Since the description of the first case with gray platelet syndrome (GPS) in 1971, this rare inherited platelet disorder has been the focus of extensive clinical and basic research. These studies have not only increased our knowledge about the clinical manifestations of GPS but also deepened our understanding of the biogenesis of platelet α-granules and their pathophysiology in hemostasis and thrombosis. The discovery of the causal gene, neurobeachin-like 2, in 2011 was a milestone in hematology. Following this was the rapid diagnosis and phenotyping of many new patients and the further development of experimental models to characterize the pathophysiological relevance of neurobeachin-like 2 in hemostasis and immunity. The impact of altered protein function on cells other than platelets became apparent, including defects in the granules of neutrophils and monocytes and changes in the transcriptomic and proteomic profiles of other immune cells such as T lymphocytes. Besides the previously recognized clinical manifestations of macrothrombocytopenia, splenomegaly, and early-onset bone marrow fibrosis, we now recognize that immunologic abnormalities, including autoimmune diseases and recurrent infections, affect a proportion of patients with GPS. There is a proinflammatory signature of the plasma in GPS, with quantitative alterations of multiple proteins, including many produced by the liver. This review will cover the classical features of GPS and then focus on additional clinical manifestations of immune dysregulation and cellular defects beyond platelets in patients with this rare disorder.
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Maladies auto-immunes / Syndrome des plaquettes grises Type d'étude: Diagnostic_studies / Prognostic_studies Limites: Humans Langue: En Journal: J Thromb Haemost Sujet du journal: HEMATOLOGIA Année: 2023 Type de document: Article Pays de publication: Royaume-Uni

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Maladies auto-immunes / Syndrome des plaquettes grises Type d'étude: Diagnostic_studies / Prognostic_studies Limites: Humans Langue: En Journal: J Thromb Haemost Sujet du journal: HEMATOLOGIA Année: 2023 Type de document: Article Pays de publication: Royaume-Uni