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

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

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...

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Bibliographic Details
Main Authors: Qing Zhang, Yun-Ze Zhao, Hong-Hao Ma, Dong Wang, Nan Zhang, Zhi-Gang Li, Rui Zhang
Format: Article
Language:English
Published: BMC 2021-05-01
Series:BMC Pediatrics
Subjects:
Griscelli syndrome type 2
RAB27A
Hemophagocytic lymphohistiocytosis
Central nervous system involvement
Online Access:https://doi.org/10.1186/s12887-021-02720-1

Internet

https://doi.org/10.1186/s12887-021-02720-1

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