A Heterozygous RAB27A Mutation Associated with Delayed Cytolytic Granule Polarization and Hemophagocytic Lymphohistiocytosis()

Frequently fatal, primary hemophagocytic lymphohistiocytosis (HLH) occurs in infancy resulting from homozygous mutations in natural killer (NK) and CD8 T cell cytolytic pathway genes. Secondary HLH presents after infancy and may be associated with heterozygous mutations in HLH genes. We report 2 unr...

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Publicado no:J Immunol
Main Authors: Zhang, Mingce, Bracaglia, Claudia, Prencipe, Giusi, Bemrich-Stolz, Christina J., Beukelman, Timothy, Dimmitt, Reed A., Chatham, W. Winn, Zhang, Kejian, Li, Hao, Walter, Mark R., De Benedetti, Fabrizio, Grom, Alexei A., Cron, Randy Q.
Formato: Artigo
Idioma:Inglês
Publicado em: 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4779709/
https://ncbi.nlm.nih.gov/pubmed/26880764
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4049/jimmunol.1501284
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