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

• Glavni autori: Qing Zhang (Autor), Yun-Ze Zhao (Autor), Hong-Hao Ma (Autor), Dong Wang (Autor), Nan Zhang (Autor), Zhi-Gang Li (Autor), Rui Zhang (Autor)
• Format: Knjiga
• Izdano: BMC, 2021-05-01T00:00:00Z.
• Teme: article
• Online pristup: 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...