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

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 onset in...

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Gepubliceerd in:BMC Pediatr
Hoofdauteurs: Zhang, Qing, Zhao, Yun-Ze, Ma, Hong-Hao, Wang, Dong, Zhang, Nan, Li, Zhi-Gang, Zhang, Rui
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BioMed Central 2021
Onderwerpen:
Case Report
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8167959/
https://ncbi.nlm.nih.gov/pubmed/34058999
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12887-021-02720-1
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