A novel frameshift mutation of Chediak-Higashi syndrome and treatment in the accelerated phase
A novel frameshift mutation of Chediak-Higashi syndrome and treatment in the accelerated phase
About this item
Full title
Author / Creator
Wu, X.L. , Zhao, X.Q. , Zhang, B.X. , Xuan, F. , Guo, H.M. and Ma, F.T.
Publisher
Brazil: Associacao Brasileira de Divulgacao Cientifica (ABDC)
Journal title
Language
English
Formats
Publication information
Publisher
Brazil: Associacao Brasileira de Divulgacao Cientifica (ABDC)
Subjects
More information
Scope and Contents
Contents
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive immunodeficiency disease characterized by frequent infections, hypopigmentation, progressive neurologic deterioration and hemophagocytic lymphohistiocytosis (HLH), known as the accelerated phase. There is little experience in the accelerated phase of CHS treatment worldwide. Here, we pres...
Alternative Titles
Full title
A novel frameshift mutation of Chediak-Higashi syndrome and treatment in the accelerated phase
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_906f7b7b067c4feeb9c81178946ffe5e
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_906f7b7b067c4feeb9c81178946ffe5e
Other Identifiers
ISSN
0100-879X,1414-431X
E-ISSN
1414-431X
DOI
10.1590/1414-431x20165727
