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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Enregistré dans:
Détails bibliographiques
Publié dans:Blood
Auteurs principaux: Rubin, Tamar S., Zhang, Kejian, Gifford, Carrie, Lane, Adam, Choo, Sharon, Bleesing, Jack J., Marsh, Rebecca A.
Format: Artigo
Langue:Inglês
Publié: American Society of Hematology 2017
Sujets:
Immunobiology
Accès en ligne: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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