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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Bibliografiska uppgifter
I publikationen:J Immunol
Huvudupphovsmän: 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.
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2016
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Article
Länkar: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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