GRISCELLI SYNDROME: MOLECULAR PATHOLOGY, DIFFERENTIAL DIAGNOSIS AND THERAPEUTIC STRATEGIES

Abstract

Griscelli syndrome (GS) is a rare autosomal recessive disorder characterized by disruption of the intracellular vesicular transport system. This article provides a comprehensive and in-depth coverage of the molecular mechanisms of the disease, its immunopathogenesis, genetic basis, clinical manifestations, differential diagnosis, and modern treatment approaches. Special attention is given to contemporary biomarkers, genetic testing, and transplantation strategies.