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Novel perforin mutation in a patient with hemophagocytic lymphohistiocytosis and CD45 abnormal splicing

✍ Scribed by McCormick, James ;Flower, Darren R. ;Strobel, Stephan ;Wallace, Diana L. ;Beverley, Peter C.L. ;Tchilian, Elma Z.

Publisher: John Wiley and Sons
Year: 2003
Tongue: English
Weight: 192 KB
Volume: 117A
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.a.10010

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## Abstract Hemophagocytic lymphohistiocytosis (HLH) is a rare and severe inflammatory disorder marked by abnormal cytotoxic T and natural killer cell activity, resulting in impaired clearance of pathogen, excessive cytokine production, and continued immune system activation. Soluble IL‐2 receptor