Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome.
Ontology highlight
ABSTRACT:
OTHER RELATED OMICS DATASETS IN: MODEL1109130000MODEL1311110000MODEL1909260003MODEL1311110001MODEL1909260004MODEL1703310000MODEL1909260005MODEL1909260006
INSTRUMENT(S): Orbitrap Fusion Lumos, Q Exactive
ORGANISM(S): Homo Sapiens (human)
TISSUE(S): Platelet, Blood Cell, Monocyte, Neutrophil, Blood
DISEASE(S): Gray Platelet Syndrome
SUBMITTER: 
Laxmikanth Kollipara
LAB HEAD: Albert Sickmann
PROVIDER: PXD016366 | Pride | 2020-07-23
REPOSITORIES: Pride
Publications
Novel manifestations of immune dysregulation and granule defects in gray platelet syndrome.
Sims Matthew C MC Mayer Louisa L Collins Janine H JH Bariana Tadbir K TK Megy Karyn K Lavenu-Bombled Cecile C Seyres Denis D Kollipara Laxmikanth L Burden Frances S FS Greene Daniel D Lee Dave D Rodriguez-Romera Antonio A Alessi Marie-Christine MC Astle William J WJ Bahou Wadie F WF Bury Loredana L Chalmers Elizabeth E Da Silva Rachael R De Candia Erica E Deevi Sri V V SVV Farrow Samantha S Gomez Keith K Grassi Luigi L Greinacher Andreas A Gresele Paolo P Hart Dan D Hurtaud Marie-Françoise MF Kelly Anne M AM Kerr Ron R Le Quellec Sandra S Leblanc Thierry T Leinøe Eva B EB Mapeta Rutendo R McKinney Harriet H Michelson Alan D AD Morais Sara S Nugent Diane D Papadia Sofia S Park Soo J SJ Pasi John J Podda Gian Marco GM Poon Man-Chiu MC Reed Rachel R Sekhar Mallika M Shalev Hanna H Sivapalaratnam Suthesh S Steinberg-Shemer Orna O Stephens Jonathan C JC Tait Robert C RC Turro Ernest E Wu John K M JKM Zieger Barbara B Kuijpers Taco W TW Whetton Anthony D AD Sickmann Albert A Freson Kathleen K Downes Kate K Erber Wendy N WN Frontini Mattia M Nurden Paquita P Ouwehand Willem H WH Favier Remi R Guerrero Jose A JA
Blood 20201001 17
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 detailed clinical genotypic and phenotypic study of 47 patients with GPS and identified ...[more]
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