Abstract
In this issue of Blood, Sims et al describe clinical, genotypic, and phenotypic findings in 47 patients with the gray platelet syndrome (GPS), a rare recessive platelet disorder with α-granule abnormalities and mutations in NBEAL2. They expand the repertoire of granule defects in GPS to leukocytes and document an important association of GPS with immune dysregulation and autoimmune diseases.
MeSH terms
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Blood Platelets
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Cytoplasmic Granules
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Gray Platelet Syndrome* / genetics
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Humans