Perforin and CD107a testing is superior to NK cell function testing for screening patients for genetic HLH

Primary hemophagocytic lymphohistiocytosis (HLH) can be caused by biallelic mutations in PRF1, encoding perforin, or UNC13D, STXBP2, STX11, RAB27A, LYST, and AP3B1, encoding proteins involved in cytotoxic lymphocyte degranulation. Natural killer (NK)–cell cytotoxicity assays can quickly screen for a...

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Detalhes bibliográficos
Publicado no:Blood
Main Authors: Rubin, Tamar S., Zhang, Kejian, Gifford, Carrie, Lane, Adam, Choo, Sharon, Bleesing, Jack J., Marsh, Rebecca A.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2017
Assuntos:
Immunobiology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5766842/
https://ncbi.nlm.nih.gov/pubmed/28270454
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2016-12-753830
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