Article
[Perforin gene mutation in middle-age onset hemophagocytic lymphohistiocytosis].
[Rinsho ketsueki] The Japanese journal of clinical hematology - 1 Jan 2022
Kishimoto Wataru, Fujita Kousei, Shimazu Yayoi, Hamada Tsuneyoshi, Miyamoto Takayuki, Yasumi Takahiro, Hishizawa Masakatsu, Moriguchi Toshinori
Abstract excerpt
A 54-year-old woman was referred to our hospital for pancytopenia and liver dysfunction, and with no personal or family history of hemophagocytic lymphohistiocytosis (HLH). Although the etiology was unknown, she was diagnosed with HLH. She experienced exacerbation of HLH even after initiating systemic chemotherapy with etoposide, dexamethasone, and cyclosporine. Furthermore, flow cytometric analysis of the...
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