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Neutrophil specific granule and NETosis defects in gray platelet syndrome

25 Jan 2021

Abstract excerpt

Gray platelet syndrome (GPS) is an autosomal recessive bleeding disorder characterized by a lack of α-granules in platelets and progressive myelofibrosis. Rare loss-of-function variants in neurobeachin-like 2 (NBEAL2), a member of the family of beige and Chédiak-Higashi (BEACH) genes, are causal of GPS. It is suggested that BEACH domain containing proteins are involved in fusion, fission, and trafficking of...

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PMID: 33496751
DOI: 10.1182/bloodadvances.2020002442

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