Griscelli syndrome subtype 2 with hemophagocytic lympho-histiocytosis: A case report and review of literature.
Intractable Rare Dis Res 2017 Feb;6(1):76-79
Department of Pediatrics, Sawai Man Singh Medical College and Hospital, Jaipur, Rajasthan, India.
Griscelli syndrome (GS) is a rare autosomal recessive disorder resulting in pigmentary dilution of the skin and hair with variable phenotypes depending upon subtypes. Mutations in 3 distinct genes MYO5A, RAB27A, MLPH are responsible for 3 subtypes (GS1, GS2, and GS3) of GS respectively. GS subtype 2 commonly develops hemophagocytic lymphohistiocytosis (HLH) and recurrent infections due to immunodeficiency. Read More