Article
Genetic subtypes of familial hemophagocytic lymphohistiocytosis: correlations with clinical features and cytotoxic T lymphocyte/natural killer cell functions.
Blood - 1 May 2005
Ishii Eiichi, Ueda Ikuyo, Shirakawa Ryutaro, Yamamoto Ken, Horiuchi Hisanori, Ohga Shouichi, Furuno Kenji, Morimoto Akira, Imayoshi Miyoko, Ogata Yoshiyasu, Zaitsu Masafumi, Sako Masahiro, Koike Kenichi, Sakata Akifumi, Takada Hidetoshi, Hara Toshiro, Imashuku Shinsaku, Sasazuki Takehiko, Yasukawa Masaki
Abstract excerpt
Mutations of the perforin (PRF1) and MUNC13-4 genes distinguish 2 forms of familial hemophagocytic lymphohistiocytosis (FHL2 and FHL3, respectively), but the clinical and biologic correlates of these genotypes remain in question. We studied the presenting features and cytotoxic T lymphocyte/natural killer (CTL/NK) cell functions of 35 patients for their relationship to distinct FHL subtypes. FHL2 (n = 11) had an...
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