Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome

Gray platelet syndrome (GPS) is a rare recessive disorder caused by biallelic variants in NBEAL2 and characterized by bleeding symptoms, the absence of platelet α-granules, splenomegaly, and bone marrow (BM) fibrosis. Due to the rarity of GPS, it has been difficult to fully understand the pathogenic...

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Detalhes bibliográficos
Publicado no:Blood
Main Authors: Sims, Matthew C., Mayer, Louisa, Collins, Janine H., Bariana, Tadbir K., Megy, Karyn, Lavenu-Bombled, Cecile, Seyres, Denis, Kollipara, Laxmikanth, Burden, Frances S., Greene, Daniel, Lee, Dave, Rodriguez-Romera, Antonio, Alessi, Marie-Christine, Astle, William J., Bahou, Wadie F., Bury, Loredana, Chalmers, Elizabeth, Da Silva, Rachael, De Candia, Erica, Deevi, Sri V. V., Farrow, Samantha, Gomez, Keith, Grassi, Luigi, Greinacher, Andreas, Gresele, Paolo, Hart, Dan, Hurtaud, Marie-Françoise, Kelly, Anne M., Kerr, Ron, Le Quellec, Sandra, Leblanc, Thierry, Leinøe, Eva B., Mapeta, Rutendo, McKinney, Harriet, Michelson, Alan D., Morais, Sara, Nugent, Diane, Papadia, Sofia, Park, Soo J., Pasi, John, Podda, Gian Marco, Poon, Man-Chiu, Reed, Rachel, Sekhar, Mallika, Shalev, Hanna, Sivapalaratnam, Suthesh, Steinberg-Shemer, Orna, Stephens, Jonathan C., Tait, Robert C., Turro, Ernest, Wu, John K. M., Zieger, Barbara, Kuijpers, Taco W., Whetton, Anthony D., Sickmann, Albert, Freson, Kathleen, Downes, Kate, Erber, Wendy N., Frontini, Mattia, Nurden, Paquita, Ouwehand, Willem H., Favier, Remi, Guerrero, Jose A.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2020
Assuntos:
Platelets and Thrombopoiesis
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7582559/
https://ncbi.nlm.nih.gov/pubmed/32693407
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood.2019004776
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