Successful rescue of a lethal Griscelli syndrome type 2 presenting with neurological involvement and...
Successful rescue of a lethal Griscelli syndrome type 2 presenting with neurological involvement and hemophagocytic lymphohistiocytosis: a case report
About this item
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Author / Creator
Zhang, Qing , Zhao, Yun-Ze , Ma, Hong-Hao , Wang, Dong , Zhang, Nan , Li, Zhi-Gang and Zhang, Rui
Publisher
London: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
London: BioMed Central Ltd
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Scope and Contents
Contents
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 GS2 and treatment has rarely been described. Case p...
Alternative Titles
Full title
Successful rescue of a lethal Griscelli syndrome type 2 presenting with neurological involvement and hemophagocytic lymphohistiocytosis: a case report
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Author / Creator
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_2884ec061ba8437e9611debf6bd165f9
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_2884ec061ba8437e9611debf6bd165f9
Other Identifiers
ISSN
1471-2431
E-ISSN
1471-2431
DOI
10.1186/s12887-021-02720-1
