STXBP2-R190C Variant in a Patient With Neonatal Hemophagocytic Lymphohistiocytosis (HLH) and G6PD Deficiency Reveals a Critical Role of STXBP2 Domain 2 on Granule Exocytosis
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DOI: 10.3389/fimmu.2020.545414
Abstract: Neonatal hemophagocytic lymphohistiocytosis (HLH) is a medical emergency that can be associated with significant morbidity and mortality. Often these patients present with familial HLH (f-HLH), which is caused by gene mutations interfering with the cytolytic… read more here.
Keywords: stxbp2; lymphohistiocytosis hlh; hlh; hemophagocytic lymphohistiocytosis ... See more keywords