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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Detaylı Bibliyografya
Yayımlandı:J Immunol
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2016
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Article
Online Erişim: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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