Article
Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome.
Blood - 22 Oct 2020
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
Abstract excerpt
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 processes that lead to these clinical sequelae. To discern the spectrum of pathologic features, we performed a...
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