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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Foilsithe in:Blood
Main Authors: Rubin, Tamar S., Zhang, Kejian, Gifford, Carrie, Lane, Adam, Choo, Sharon, Bleesing, Jack J., Marsh, Rebecca A.
Formáid: Artigo
Teanga:Inglês
Foilsithe: American Society of Hematology 2017
Ábhair:
Immunobiology
Rochtain Ar Líne: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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