Successful rescue of a lethal Griscelli syndrome type 2 presenting with neurological involvement and hemophagocytic lymphohistiocytosis: a case report

• Main Authors: Qing Zhang (Author), Yun-Ze Zhao (Author), Hong-Hao Ma (Author), Dong Wang (Author), Nan Zhang (Author), Zhi-Gang Li (Author), Rui Zhang (Author)
• Format: Book
• Published: BMC, 2021-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Griscelli syndrome type 2 (GS2) is a rare autosomal recessive disease caused by mutations in RAB27A gene. It is primarily characterized by a combination of partial albinism, hemophagocytic lymphohistiocytosis (HLH) or other immunodeficiency. However, neurological involvement at o...