Griscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency
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DOI: 10.1007/s10875-024-01842-2
Abstract: Griscelli syndrome type 2 (GS2) is a rare, life-threatening immunodysregulatory disorder characterised by impaired cytotoxic activity leading to susceptibility to haemophagocytic lymphohistiocytosis (HLH) and hypopigmentation. We completed a literature review and analysis of clinical data… read more here.
Keywords: griscelli syndrome; syndrome type; type comprehensive; comprehensive analysis ... See more keywords